Materiały źródłowe

• #1

  https://journals.lww.com/ijno/fulltext/2021/04001/diagnosis_and_management_of_central_nervous_system.28.aspx

  Central nervous system (CNS) embryonal tumors exhibit significant biological heterogeneity and pose challenges in diagnosis and clinical management. […] Advances in understanding the molecular alterations of these tumors, using genomic and epigenomic platforms, have led to refinement in their diagnosis, classification, and guiding clinical management. […] However, what has remained constant is the fact that embryonal tumors pose a challenge in diagnosis as well as management and are generally associated with a poor prognosis, excepting for an favorable biology observed in localized medulloblastoma, which has an excellent long-term survival. […] The nomenclature of embryonal tumor based on the cell of origin was proposed initially by Bailey and Cushing, who laid down the foundation for the classification of tumors of the CNS.

• #2 Diagnosis and management of central nervous system embryonal tumors in the molecular era: A contemporary review. – Document – Gale Academic OneFile

  https://go.gale.com/ps/i.do?id=GALE%7CA681937158&sid=googleScholar&v=2.1&it=r&linkaccess=abs&issn=25902652&p=AONE&sw=w

  Central nervous system (CNS) embryonal tumors exhibit significant biological heterogeneity and pose challenges in diagnosis and clinical management. […] Advances in understanding the molecular alterations of these tumors, using genomic and epigenomic platforms, have led to refinement in their diagnosis, classification, and guiding clinical management. […] However, what has remained constant is the fact that embryonal tumors pose a challenge in diagnosis as well as management and are generally associated with a poor prognosis, excepting for an favorable biology observed in localized medulloblastoma, which has an excellent long-term survival. […] Subsequently, with the efforts by several research groups, understanding of the biology of embryonal tumors has exponentially grown, with the recognition of significant molecular heterogeneity within these embryonal tumors, resulting in the integration of molecular data in their classification in the WHO 2016 update classification of CNS tumors. […] This review discusses the recent concepts in the understanding of embryonal tumor entities with respect to clinical and imaging characteristics, neurosurgical aspects, histopathology, molecular genetics, and their management.

• #3 Diagnostic aspects of pediatric embryonal tumors of the central nervous system: what should know pediatrician

  https://ouci.dntb.gov.ua/en/works/loR0OQp4/

  Diagnostic aspects of pediatric embryonal tumors of the central nervous system: what should know pediatrician […] Early identification of pediatric central nervous system (CNS) tumors is important in relation to disease prognosis, as well as long-term treatment outcomes, which determine subsequent quality of life. […] The predominance of embryonal tumors (ETs) in early childhood actualizes the problem of timely verification of the diagnosis. […] Factors contributing to the extension of diagnostic time in the presented patient’s cohort include the inability to adequately verbalize complaints in young children, a wide range of clinical presentations, including nonspecific ones, the relatively low incidence of ET in the population and the low level of oncological alertness among specialists.

• #4 Embryonal tumors – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/embryonal-tumor/diagnosis-treatment/drc-20579642

  Your healthcare team reviews your child’s medical history and symptoms. Tests and procedures used to diagnose embryonal tumors include: […] Imaging tests make pictures of the brain. The pictures can show the size and location of the tumor. The pictures may show pressure or blockages of the fluid in the brain. CT and MRI are often used to diagnose brain tumors. Advanced techniques, such as perfusion MRI and magnetic resonance spectroscopy, also may be used. […] A biopsy is a procedure to remove a sample of tissue from the tumor for testing. The sample is often taken during surgery to remove the tumor. Your child’s healthcare team may want to remove tissue before surgery if the imaging tests show features that aren’t typical of embryonal tumors. The tissue is looked at in a lab to determine the types of cells.

• #5 Childhood Medulloblastoma & Other CNS Embryonal Tumors Treatment – NCI

  https://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq

  Medulloblastoma and other central nervous system (CNS) embryonal tumors may begin in embryonic (fetal) cells that remain in the brain after birth. […] Tests that examine the brain and spinal cord are used to diagnose childhood medulloblastoma, other CNS embryonal tumors, and pineoblastoma. […] A biopsy may be done to be sure of the diagnosis. […] Symptoms of medulloblastoma, other CNS embryonal tumors, and pineoblastoma depend on the child’s age and where the tumor is. […] If your child has symptoms that suggest medulloblastoma, another type of CNS embryonal tumor, or pineoblastoma, the doctor will need to find out if these are due to cancer or another problem. […] The tests used to diagnose medulloblastoma, other CNS embryonal tumors, and pineoblastoma may include: MRI (magnetic resonance imaging) of the brain and spinal cord with gadolinium, CT scan (CAT scan), lumbar puncture.

• #6

  https://journals.lww.com/ijno/fulltext/2021/04001/diagnosis_and_management_of_central_nervous_system.28.aspx

  Since a significant proportion of infants and toddlers are also affected with embryonal CNS tumors, diagnosis can sometimes be challenging with generalized symptoms such as increasing irritability, lethargy, poor feeding, vomiting, developmental delay, and failure to thrive. […] Recommended MRI sequences include pre- and postcontrast T1-weighted images, T2-weighted images, and fluid-attenuation inversion recovery images, supplemented with perfusion-weighted imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy, as these advanced sequences can provide useful information in predicting tumor histology or ruling out nonneoplastic etiologies. […] Maximal safe resection of the tumor via microneurosurgical approach is the recommended first-line treatment in the multimodality management of medulloblastoma and other embryonal CNS tumors.

• #7 Diagnostic aspects of pediatric embryonal tumors of the central nervous system: what should know pediatrician

  https://ouci.dntb.gov.ua/en/works/loR0OQp4/

  This determines the need for a more careful assessment of the clinical manifestations and disease-associated symptoms by doctors of all specialties and, especially, primary care specialists. […] Analysis of clinical symptoms at the disease’s onset in pediatric CNS ET in order to determine their associations with the tumor’s characteristics (site, hystologic type) and the patient’s features. […] The most common type of CNS ET in the study group was medulloblastoma (MB; 66.1%). […] The most frequent symptoms in patients with ET were nausea and vomiting (68%), headache (50%), and gait disturbances (25.6%). […] Increased head circumference/bulging fontanel (p = 0.0016) and torticollis (p = 0.0057) were the most common symptoms associated with younger age. […] Headache was predominated symptom in medulloblastoma (p = 2.60 · 10-4) compared to other ETs, and less common in ATRT (p = 1.51 · 10-4), which may be due to the patient’s age.

• #8 Medulloblastoma: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1962091-overview

  Symptoms are often progressive over weeks to months, and it is not uncommon for patients to have an extended symptomatic period prior to initial diagnosis. […] Imaging of the entire craniospinal axis is an essential part of the initial diagnostic evaluation. […] No specific biochemical test exists for the presence of medulloblastoma, although several molecular studies have revealed that histologically identical medulloblastomas are composed of distinct subgroups with different prognosis. […] Imaging is the primary mode of monitoring residual disease, efficacy of continuing medical treatment, and recurrence or metastasis. […] Surgery is still the mainstay initial therapy for medulloblastoma, as both a tool for diagnosis and as a risk-stratification factor. […] The recommendation is still to go for the safest resection possible, and if a second surgery is needed it is better to do it before starting the adjuvant treatment.

• #9

  https://www.meetaugust.ai/en/library/diseases-conditions/view/embryonal-tumor

  Embryonal tumors are abnormal growths in the brain, made up of cells that are leftover from when a baby is developing in the womb. These tumors are most common in babies and young children, but they can happen at any age. If your child is suspected to have an embryonal tumor, it’s crucial to seek care at a medical center experienced in treating pediatric brain tumors. These centers have the latest technology and expertise to ensure a correct diagnosis and effective treatment. Diagnosing an embryonal tumor involves several steps: Neurological exam: Doctors assess vision, hearing, balance, muscle strength, coordination, and reflexes to pinpoint which part of the brain might be affected. Biopsy: A small tissue sample from the tumor is taken for examination under a microscope. This is often done during surgery, or sometimes before surgery if imaging tests show unusual features. Analyzing the tissue helps determine the specific type of tumor cells.

• #10 Medulloblastoma: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1962091-overview

  Symptoms are often progressive over weeks to months, and it is not uncommon for patients to have an extended symptomatic period prior to initial diagnosis. […] Imaging of the entire craniospinal axis is an essential part of the initial diagnostic evaluation. […] No specific biochemical test exists for the presence of medulloblastoma, although several molecular studies have revealed that histologically identical medulloblastomas are composed of distinct subgroups with different prognosis. […] Imaging is the primary mode of monitoring residual disease, efficacy of continuing medical treatment, and recurrence or metastasis. […] Surgery is still the mainstay initial therapy for medulloblastoma, as both a tool for diagnosis and as a risk-stratification factor. […] The recommendation is still to go for the safest resection possible, and if a second surgery is needed it is better to do it before starting the adjuvant treatment.

• #11 Embryonal tumors – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/embryonal-tumor/diagnosis-treatment/drc-20579642

  Your healthcare team reviews your child’s medical history and symptoms. Tests and procedures used to diagnose embryonal tumors include: […] Imaging tests make pictures of the brain. The pictures can show the size and location of the tumor. The pictures may show pressure or blockages of the fluid in the brain. CT and MRI are often used to diagnose brain tumors. Advanced techniques, such as perfusion MRI and magnetic resonance spectroscopy, also may be used. […] A biopsy is a procedure to remove a sample of tissue from the tumor for testing. The sample is often taken during surgery to remove the tumor. Your child’s healthcare team may want to remove tissue before surgery if the imaging tests show features that aren’t typical of embryonal tumors. The tissue is looked at in a lab to determine the types of cells.

• #12 Childhood Medulloblastoma and Other Central Nervous System Embryonal Tumors Treatment (PDQ®): Treatment – Health Professional Information [NCI] | Kaiser Permanente

  https://healthy.kaiserpermanente.org/health-wellness/health-encyclopedia/he.childhood-medulloblastoma-and-other-central-nervous-system-embryonal-tumors-treatment-pdq%C2%AE-treatment-health-professional-information-nci.ncicdr0000548358

  Embryonal tumors are a collection of biologically heterogeneous lesions that share the tendency to disseminate throughout the nervous system via cerebrospinal fluid (CSF) pathways. […] The pathological diagnosis of embryonal tumors is based primarily on histological and immunohistological microscopic features. However, molecular genetic studies are employed increasingly to subclassify embryonal tumors. These molecular genetic findings are also being used for risk stratification and treatment planning. […] Imaging studies and CSF analysis are included in the diagnostic and staging evaluation. […] Diagnosis is usually made by either magnetic resonance imaging (MRI) or computed tomography (CT) scan. MRI is preferable because the anatomical relationship between the tumor and surrounding brain and tumor dissemination is better visualized with this method.

• #13 Embryonal tumors | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/embryonal-tumors?content_id=CON-20367936

  Embryonal tumors are a type of brain cancer, also called malignant brain tumor. This means the cells that make up the tumor can grow to invade the brain and cause damage to healthy brain tissue. […] If your child is diagnosed with an embryonal tumor, seek care at a medical center that has experience caring for children with brain tumors. Medical centers with expertise in pediatric brain tumors provide access to the latest treatments and technology to ensure proper diagnosis and treatment. […] Your healthcare team reviews your child’s medical history and symptoms. Tests and procedures used to diagnose embryonal tumors include: […] Imaging tests make pictures of the brain. The pictures can show the size and location of the tumor. The pictures may show pressure or blockages of the fluid in the brain. CT and MRI are often used to diagnose brain tumors. Advanced techniques, such as perfusion MRI and magnetic resonance spectroscopy, also may be used.

• #14

  https://journals.lww.com/ijno/fulltext/2021/04001/diagnosis_and_management_of_central_nervous_system.28.aspx

  Since a significant proportion of infants and toddlers are also affected with embryonal CNS tumors, diagnosis can sometimes be challenging with generalized symptoms such as increasing irritability, lethargy, poor feeding, vomiting, developmental delay, and failure to thrive. […] Recommended MRI sequences include pre- and postcontrast T1-weighted images, T2-weighted images, and fluid-attenuation inversion recovery images, supplemented with perfusion-weighted imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy, as these advanced sequences can provide useful information in predicting tumor histology or ruling out nonneoplastic etiologies. […] Maximal safe resection of the tumor via microneurosurgical approach is the recommended first-line treatment in the multimodality management of medulloblastoma and other embryonal CNS tumors.

• #15

  https://journals.lww.com/ijno/fulltext/2021/04001/diagnosis_and_management_of_central_nervous_system.28.aspx

  Since a significant proportion of infants and toddlers are also affected with embryonal CNS tumors, diagnosis can sometimes be challenging with generalized symptoms such as increasing irritability, lethargy, poor feeding, vomiting, developmental delay, and failure to thrive. […] Recommended MRI sequences include pre- and postcontrast T1-weighted images, T2-weighted images, and fluid-attenuation inversion recovery images, supplemented with perfusion-weighted imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy, as these advanced sequences can provide useful information in predicting tumor histology or ruling out nonneoplastic etiologies. […] Maximal safe resection of the tumor via microneurosurgical approach is the recommended first-line treatment in the multimodality management of medulloblastoma and other embryonal CNS tumors.

• #16 Childhood Medulloblastoma and Other Central Nervous System Embryonal Tumors Treatment (PDQ®): Treatment – Health Professional Information [NCI] | Kaiser Permanente

  https://healthy.kaiserpermanente.org/health-wellness/health-encyclopedia/he.childhood-medulloblastoma-and-other-central-nervous-system-embryonal-tumors-treatment-pdq%C2%AE-treatment-health-professional-information-nci.ncicdr0000548358

  After diagnosis, evaluation of embryonal tumors is quite similar, essentially independent of the histological subtype and the location of the tumor. Given the tendency of these tumors to disseminate throughout the CNS early in the course of illness, imaging evaluation of the neuraxis by MRI of the entire brain and spine is indicated. […] After surgery, lumbar CSF analysis is performed, if deemed safe. Neuroimaging and CSF evaluation are considered complementary because as many as 10% of patients will have evidence of free-floating tumor cells in the CSF without clear evidence of leptomeningeal disease on MRI scan. […] An accurate diagnosis is critical for patients with embryonal tumors. […] Prognostic factors and treatment results for supratentorial primitive neuroectodermal tumors in children using radiation and chemotherapy: a Childrens Cancer Group randomized trial.

• #17 Embryonal Tumors | Neupsy Key

  https://neupsykey.com/embryonal-tumors/

  The three main standard imaging phenotypes that can help predict MB molecular subgroups are (1) anatomic location, (2) enhancement pattern, and (3) metastasis. […] As 40-50% of MBs have CSF dissemination at the time of initial diagnosis, preoperative contrast-enhanced MR of the entire neuraxis is recommended. […] The differential diagnosis of MB in adults differs. […] AT/RT is a genetically defined tumor characterized by deletions and biallelic inactivating mutations of the SMARCB1 (a.k.a. hSNF5 or INI1) gene. […] AT/RT is a highly malignant tumor with generally poor prognosis.

• #18 Radiology of Brain Embryonal Tumors | Articl.net

  https://articl.net/resource/radiology-of-brain-embryonal-tumors

  Brain embryonal tumors represent a heterogeneous group of neuroepithelial neoplasms derived from primitive neuroectodermal cells. […] Synonyms include primitive neuroectodermal tumors (PNET) and more histologically specific terms like medulloblastoma, CNS embryonal tumor with rhabdoid features, and embryonal tumor with multilayered rosettes (ETMR). […] T1-weighted Imaging: Typically hypointense relative to gray matter. […] T2-weighted Imaging: Hyperintense signal with peritumoral edema, often extensive. […] Post-contrast T1-weighted Imaging: Variable enhancement patterns; medulloblastomas often show homogeneous enhancement, whereas other embryonal tumors exhibit heterogeneous enhancement. […] Diffusion-weighted Imaging (DWI): Restricted diffusion, indicative of high cellular density.

• #19 Radiology of Brain Embryonal Tumors | Articl.net

  https://articl.net/resource/radiology-of-brain-embryonal-tumors

  Brain embryonal tumors represent a heterogeneous group of neuroepithelial neoplasms derived from primitive neuroectodermal cells. […] Synonyms include primitive neuroectodermal tumors (PNET) and more histologically specific terms like medulloblastoma, CNS embryonal tumor with rhabdoid features, and embryonal tumor with multilayered rosettes (ETMR). […] T1-weighted Imaging: Typically hypointense relative to gray matter. […] T2-weighted Imaging: Hyperintense signal with peritumoral edema, often extensive. […] Post-contrast T1-weighted Imaging: Variable enhancement patterns; medulloblastomas often show homogeneous enhancement, whereas other embryonal tumors exhibit heterogeneous enhancement. […] Diffusion-weighted Imaging (DWI): Restricted diffusion, indicative of high cellular density.

• #20 Radiology of Brain Embryonal Tumors | Articl.net

  https://articl.net/resource/radiology-of-brain-embryonal-tumors

  Brain embryonal tumors represent a heterogeneous group of neuroepithelial neoplasms derived from primitive neuroectodermal cells. […] Synonyms include primitive neuroectodermal tumors (PNET) and more histologically specific terms like medulloblastoma, CNS embryonal tumor with rhabdoid features, and embryonal tumor with multilayered rosettes (ETMR). […] T1-weighted Imaging: Typically hypointense relative to gray matter. […] T2-weighted Imaging: Hyperintense signal with peritumoral edema, often extensive. […] Post-contrast T1-weighted Imaging: Variable enhancement patterns; medulloblastomas often show homogeneous enhancement, whereas other embryonal tumors exhibit heterogeneous enhancement. […] Diffusion-weighted Imaging (DWI): Restricted diffusion, indicative of high cellular density.

• #21 Radiology of Brain Embryonal Tumors | Articl.net

  https://articl.net/resource/radiology-of-brain-embryonal-tumors

  Brain embryonal tumors represent a heterogeneous group of neuroepithelial neoplasms derived from primitive neuroectodermal cells. […] Synonyms include primitive neuroectodermal tumors (PNET) and more histologically specific terms like medulloblastoma, CNS embryonal tumor with rhabdoid features, and embryonal tumor with multilayered rosettes (ETMR). […] T1-weighted Imaging: Typically hypointense relative to gray matter. […] T2-weighted Imaging: Hyperintense signal with peritumoral edema, often extensive. […] Post-contrast T1-weighted Imaging: Variable enhancement patterns; medulloblastomas often show homogeneous enhancement, whereas other embryonal tumors exhibit heterogeneous enhancement. […] Diffusion-weighted Imaging (DWI): Restricted diffusion, indicative of high cellular density.

• #22 Rare brain embryonal tumors in infancy and early childhood | MedLink Neurology

  https://www.medlink.com/articles/rare-brain-embryonal-tumors-in-infancy-and-early-childhood

  In this article, the authors provide an overview of current concepts of clinicopathologic characteristics, specific molecular diagnosis, and general treatment strategies for these rare embryonal tumors of childhood. […] Due to varied diagnostic practices and scarce clinical data, disease features and determinants of outcomes for these tumors are poorly defined. […] Diagnostic workup of rare embryonal brain tumors should include brain and spine contrast MRI with diffusion-weighted sequences. […] On MRI, ETMRs are typically very large tumors with frequent calcifications, little-to-no surround edema, and absent or weak contrast enhancement, giving a misleading benign appearance. […] ETMRs represent a therapeutic challenge to clinicians as no uniform standard treatment protocols are available.

• #23 Embryonal tumors – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/embryonal-tumor/diagnosis-treatment/drc-20579642

  Your healthcare team reviews your child’s medical history and symptoms. Tests and procedures used to diagnose embryonal tumors include: […] Imaging tests make pictures of the brain. The pictures can show the size and location of the tumor. The pictures may show pressure or blockages of the fluid in the brain. CT and MRI are often used to diagnose brain tumors. Advanced techniques, such as perfusion MRI and magnetic resonance spectroscopy, also may be used. […] A biopsy is a procedure to remove a sample of tissue from the tumor for testing. The sample is often taken during surgery to remove the tumor. Your child’s healthcare team may want to remove tissue before surgery if the imaging tests show features that aren’t typical of embryonal tumors. The tissue is looked at in a lab to determine the types of cells.

• #24 Embryonal tumors | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/embryonal-tumors?content_id=CON-20367936

  A biopsy is a procedure to remove a sample of tissue from the tumor for testing. The sample is often taken during surgery to remove the tumor. Your child’s healthcare team may want to remove tissue before surgery if the imaging tests show features that aren’t typical of embryonal tumors. The tissue is looked at in a lab to determine the types of cells. […] A spinal tap, also called a lumbar puncture, involves inserting a needle between two bones in the lower spine. The needle draws out the fluid from around the spinal cord. The fluid, called cerebrospinal fluid, is tested to look for tumor cells or other things that aren’t typical. This test is only done after managing the pressure in the brain or removing the tumor.

• #25 Embryonal tumors | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/embryonal-tumors?content_id=CON-20367936

  A biopsy is a procedure to remove a sample of tissue from the tumor for testing. The sample is often taken during surgery to remove the tumor. Your child’s healthcare team may want to remove tissue before surgery if the imaging tests show features that aren’t typical of embryonal tumors. The tissue is looked at in a lab to determine the types of cells. […] A spinal tap, also called a lumbar puncture, involves inserting a needle between two bones in the lower spine. The needle draws out the fluid from around the spinal cord. The fluid, called cerebrospinal fluid, is tested to look for tumor cells or other things that aren’t typical. This test is only done after managing the pressure in the brain or removing the tumor.

• #26 Molecular diagnostics of CNS embryonal tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4512653/

  Consistent results across different studies using different platforms and methods of detection, however, very well justify the routine use of specific diagnostic and prognostic biomarkers in clinical trials. […] Thus, this review focuses on selected molecular biomarkers that have shown promise to be useful for diagnostic purposes and/or patient stratification into different risk groups and molecular subgroups. […] According to the 2007 WHO classification, medulloblastoma is defined as a grade IV malignant embryonal neoplasm arising in the cerebellum. […] Neuronal immunohistochemical markers such as synaptophysin are typically at least focally positive, and are commonly used in routine diagnostics. […] Associations have been made between histopathological subtype, specific genetic changes, and clinical outcome.

• #27 Childhood Central Nervous System Embryonal Tumors Treatment (PDQ®): Treatment – Health Professional Information [NCI]

  https://www.myactivehealth.com/hwcontent/content/nci/ncicdr0000548358.html

  Embryonal tumors are a collection of biologically heterogeneous lesions that share the tendency to disseminate throughout the nervous system via cerebrospinal fluid (CSF) pathways. […] The pathologic diagnosis of embryonal tumors is based primarily on histological and immunohistological microscopic features. However, molecular genetic studies are employed increasingly to subclassify embryonal tumors. These molecular genetic findings are also being utilized for risk stratification and treatment planning. […] Diagnosis is usually readily made by either magnetic resonance imaging (MRI) or computed tomography (CT) scan. MRI is preferable because the anatomic relationship between the tumor and surrounding brain and tumor dissemination is better visualized with this method. […] After diagnosis, evaluation of embryonal tumors is quite similar, essentially independent of the histologic subtype and the location of the tumor. Given the tendency of these tumors to disseminate throughout the CNS early in the course of illness, imaging evaluation of the neuraxis by means of MRI of the entire brain and spine is indicated.

• #28 Frontiers | Pediatric brain tumors: A neuropathologist’s approach to the integrated diagnosis

  https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1143363/full

  Pediatric CNS tumors, in particular, rely heavily on the integration of molecular data with histologic, clinical, and radiographic features to reach the most accurate diagnosis. […] The concept of incorporating molecular information with tumor histology to form an “integrated diagnosis” was introduced in the International Society of Neuropathology (ISN)-Haarlem guidelines in 2014 and formally adopted in the revised fourth edition of the WHO CNS tumor classification. […] The integrated diagnosis was designed to incorporate multiple critical data types (i.e., tumor type, relevant molecular information, and tumor grade) into a single, line diagnosis. […] Histologic diagnosis and grading are typically based on analysis of H&E stained sections often in conjunction with ancillary immunohistochemical stains.

• #29 Molecular diagnostics of CNS embryonal tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4512653/

  Tremendous progress has recently been made in both molecular subgrouping, and the establishment of prognostic biomarkers for embryonal brain tumors, particularly medulloblastoma. […] Several prognostic biomarkers that were initially identified in retrospective cohorts of medulloblastoma, including MYC and MYCN amplification, nuclear -catenin accumulation, and chromosome 17 aberrations have now been validated in clinical trials. […] Moreover, molecular subgroups based on distinct transcriptome profiles have been consistently reported from various groups on different platforms demonstrating that the concept of distinct medulloblastoma subgroups is very robust. […] Well-described subgroups of medulloblastomas include tumors showing wingless signaling pathway (Wnt) activation, and another characterized by sonic hedgehog pathway activity.

• #30 Frontiers | Pediatric brain tumors: A neuropathologist’s approach to the integrated diagnosis

  https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1143363/full

  Whenever possible, the most specific histologic diagnosis is rendered. […] A pathologist may feel a generic diagnosis most appropriate when a tumor does not conform to the “classic” morphologic description for a WHO entity and/or does not have adequate tissue to fully assess tumor morphology as may occur in the setting of small biopsies. […] Grading is highly dependent on tumor type. […] Molecular testing is a key component to the integrated diagnosis and overall characterization of many CNS tumors. […] A variety of molecular techniques can be used in this stepwise approach including immunohistochemistry, fluorescence in situ hybridization (FISH), and polymerase chain reaction (PCR). […] The formulation of an integrated diagnosis should take into account all pertinent clinical, radiographic, histologic, immunohistochemical, and molecular information.

• #31 Frontiers | Pediatric brain tumors: A neuropathologist’s approach to the integrated diagnosis

  https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1143363/full

  Whenever possible, the most specific histologic diagnosis is rendered. […] A pathologist may feel a generic diagnosis most appropriate when a tumor does not conform to the “classic” morphologic description for a WHO entity and/or does not have adequate tissue to fully assess tumor morphology as may occur in the setting of small biopsies. […] Grading is highly dependent on tumor type. […] Molecular testing is a key component to the integrated diagnosis and overall characterization of many CNS tumors. […] A variety of molecular techniques can be used in this stepwise approach including immunohistochemistry, fluorescence in situ hybridization (FISH), and polymerase chain reaction (PCR). […] The formulation of an integrated diagnosis should take into account all pertinent clinical, radiographic, histologic, immunohistochemical, and molecular information.

• #32 Molecular diagnostics of CNS embryonal tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4512653/

  Tremendous progress has recently been made in both molecular subgrouping, and the establishment of prognostic biomarkers for embryonal brain tumors, particularly medulloblastoma. […] Several prognostic biomarkers that were initially identified in retrospective cohorts of medulloblastoma, including MYC and MYCN amplification, nuclear -catenin accumulation, and chromosome 17 aberrations have now been validated in clinical trials. […] Moreover, molecular subgroups based on distinct transcriptome profiles have been consistently reported from various groups on different platforms demonstrating that the concept of distinct medulloblastoma subgroups is very robust. […] Well-described subgroups of medulloblastomas include tumors showing wingless signaling pathway (Wnt) activation, and another characterized by sonic hedgehog pathway activity.

• #33 Molecular diagnostics of CNS embryonal tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4512653/

  Tremendous progress has recently been made in both molecular subgrouping, and the establishment of prognostic biomarkers for embryonal brain tumors, particularly medulloblastoma. […] Several prognostic biomarkers that were initially identified in retrospective cohorts of medulloblastoma, including MYC and MYCN amplification, nuclear -catenin accumulation, and chromosome 17 aberrations have now been validated in clinical trials. […] Moreover, molecular subgroups based on distinct transcriptome profiles have been consistently reported from various groups on different platforms demonstrating that the concept of distinct medulloblastoma subgroups is very robust. […] Well-described subgroups of medulloblastomas include tumors showing wingless signaling pathway (Wnt) activation, and another characterized by sonic hedgehog pathway activity.

• #34 Embryonal Tumors | Radiology Key

  https://radiologykey.com/embryonal-tumors/

  Embryonal tumors of the central nervous system (CNS) are poorly differentiated, mitotically active, histologically and clinically aggressive, and highly cellular neoplasms and constitute the most common group of malignant brain tumors in children. […] The median age at diagnosis of medulloblastoma is 9 years, with peaks incident at 3 and 7 years of age; it is more common in boys, with female-to-male ratio of 1:1.7. […] Medulloblastomas are divided into four distinct molecular subtypes based on molecular profiles: WNT-activated, sonic hedgehog (SHH)-activated, non-WNT/non-SHH-activated group 3, and non-WNT/non-SHH-activated group 4.

• #35 Embryonal Tumors | Neupsy Key

  https://neupsykey.com/embryonal-tumors/

  The rapidly evolving molecular classification of brain tumors has fundamentally changed the understanding of embryonal neoplasms. […] The 2021 WHO classification recognizes two general categories of embryonal tumors: (1) Medulloblastoma (MB) (relatively common) and (2) other CNS embryonal tumors (rare). […] All MBs are designated CNS WHO grade 4 even though certain molecular groups and subgroups (e.g., WNT-activated tumors) have a good therapeutic response and cure is possible in some cases. […] All MB subtypes have different origins, preferred anatomic locations, and demographics, as well as different prognosis and therapeutic implications. […] The most common clinical manifestations of MB are vomiting (90%) and headache (80%). […] Poor prognostic factors include metastatic disease at time of diagnosis, TP53 mutation, MYC amplification, non-WNT/non-SHH and LC/A histologies.

• #36 Molecular diagnostics of CNS embryonal tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4512653/

  Several years ago, atypical teratoid rhabdoid tumor (AT/RT) was recognized as a separate entity based on its distinct biology and particularly aggressive clinical behavior. […] Subsequent loss of SMARCB1 protein expression comprises a relatively specific and sensitive diagnostic marker for AT/RT. […] For CNS primitive neuroectodermal tumors (CNS PNETs), a consistent finding has been that they are molecularly distinct from medulloblastoma. […] This group of tumors shows a unique cytogenetic abnormality not seen in other brain tumors: focal amplification of a micro-RNA cluster at chromosome 19q13.42, which has never been found to be amplified in other CNS PNETs, medulloblastoma or AT/RT. […] In summary, these consistent findings have significantly contributed to our ability to sub-classify embryonal brain tumors into clinically and biologically meaningful strata and, for some of the subgroups, have led to the identification of specific targets for future development of molecularly targeted therapies.

• #37 Embryonal tumour with multilayered rosettes – Wikipedia

  https://en.wikipedia.org/wiki/Embryonal_tumour_with_multilayered_rosettes

  Embryonal tumor with multilayered rosettes (ETMR) is an embryonal central nervous system tumor. […] A biopsy is needed to establish diagnosis, which is done by molecular analysis of the sample. […] The main molecular characteristic of this tumor is amplification of the C19MC microRNA cluster, which is one of the largest miRNA clusters in the human genome, encoding 59 mature miRNAs expressed commonly in the placenta and in some embryonic stem cells. The amplification can be identified using fluorescence in situ hybridization (FISH) or copy number profiling with either SNP arrays, DNA methylation arrays or next generation sequencing (NGS) approaches. […] Another marker of the disease is high expression of LIN28A, which is often identified using immunohistochemistry and is useful for diagnosis, as it is very rarely seen in other brain tumor entities. […] Complete resection is often attempted for patients with localized disease. […] Current strategies are based on treatments for other embryonal tumors of the CNS. […] Despite aggressive treatment, the prognosis is poor with 5-year overall survival rates less than 30%.

• #38 Embryonal tumour with multilayered rosettes – Wikipedia

  https://en.wikipedia.org/wiki/Embryonal_tumour_with_multilayered_rosettes

  Embryonal tumor with multilayered rosettes (ETMR) is an embryonal central nervous system tumor. […] A biopsy is needed to establish diagnosis, which is done by molecular analysis of the sample. […] The main molecular characteristic of this tumor is amplification of the C19MC microRNA cluster, which is one of the largest miRNA clusters in the human genome, encoding 59 mature miRNAs expressed commonly in the placenta and in some embryonic stem cells. The amplification can be identified using fluorescence in situ hybridization (FISH) or copy number profiling with either SNP arrays, DNA methylation arrays or next generation sequencing (NGS) approaches. […] Another marker of the disease is high expression of LIN28A, which is often identified using immunohistochemistry and is useful for diagnosis, as it is very rarely seen in other brain tumor entities. […] Complete resection is often attempted for patients with localized disease. […] Current strategies are based on treatments for other embryonal tumors of the CNS. […] Despite aggressive treatment, the prognosis is poor with 5-year overall survival rates less than 30%.

• #39

  https://journals.lww.com/ijpm/fulltext/2022/65001/embryonal_tumors_in_the_who_cns5_classification__a.11.aspx

  Embryonal tumors are a heterogenous group of neoplasms mostly defined by recurrent genetic driver events. They have been, previously, broadly classified as either medulloblastoma or supratentorial primitive neuroectodermal tumors (PNETs). […] The importance of molecular characteristics in CNS embryonal tumors is well represented by the identification of different molecular groups and subgroups in medulloblastoma. […] The combination of histopathological and molecular features reflects the complexity of all these tumors and gives critical information in terms of prognosis and therapy. This encourages the use of a layered diagnostic report with the integrated diagnosis at the top, succeeded by layers including the histological, molecular, and other essential details. […] The most important change in CNS5 is the identification of three molecular sub-groups defined by DNA methylation and/or gene expression profiling.

• #40 Embryonal tumors – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/embryonal-tumor/diagnosis-treatment/drc-20579642

  A spinal tap, also called a lumbar puncture, involves inserting a needle between two bones in the lower spine. The needle draws out the fluid from around the spinal cord. The fluid, called cerebrospinal fluid, is tested to look for tumor cells or other things that aren’t typical. This test is only done after managing the pressure in the brain or removing the tumor.

• #41 Embryonal tumors | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/embryonal-tumors?content_id=CON-20367936

  A biopsy is a procedure to remove a sample of tissue from the tumor for testing. The sample is often taken during surgery to remove the tumor. Your child’s healthcare team may want to remove tissue before surgery if the imaging tests show features that aren’t typical of embryonal tumors. The tissue is looked at in a lab to determine the types of cells. […] A spinal tap, also called a lumbar puncture, involves inserting a needle between two bones in the lower spine. The needle draws out the fluid from around the spinal cord. The fluid, called cerebrospinal fluid, is tested to look for tumor cells or other things that aren’t typical. This test is only done after managing the pressure in the brain or removing the tumor.

• #42 Embryonal tumors – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/embryonal-tumor/diagnosis-treatment/drc-20579642

  A spinal tap, also called a lumbar puncture, involves inserting a needle between two bones in the lower spine. The needle draws out the fluid from around the spinal cord. The fluid, called cerebrospinal fluid, is tested to look for tumor cells or other things that aren’t typical. This test is only done after managing the pressure in the brain or removing the tumor.

• #43 Childhood Medulloblastoma and Other Central Nervous System Embryonal Tumors Treatment (PDQ®): Treatment – Health Professional Information [NCI] | Kaiser Permanente

  https://healthy.kaiserpermanente.org/health-wellness/health-encyclopedia/he.childhood-medulloblastoma-and-other-central-nervous-system-embryonal-tumors-treatment-pdq%C2%AE-treatment-health-professional-information-nci.ncicdr0000548358

  After diagnosis, evaluation of embryonal tumors is quite similar, essentially independent of the histological subtype and the location of the tumor. Given the tendency of these tumors to disseminate throughout the CNS early in the course of illness, imaging evaluation of the neuraxis by MRI of the entire brain and spine is indicated. […] After surgery, lumbar CSF analysis is performed, if deemed safe. Neuroimaging and CSF evaluation are considered complementary because as many as 10% of patients will have evidence of free-floating tumor cells in the CSF without clear evidence of leptomeningeal disease on MRI scan. […] An accurate diagnosis is critical for patients with embryonal tumors. […] Prognostic factors and treatment results for supratentorial primitive neuroectodermal tumors in children using radiation and chemotherapy: a Childrens Cancer Group randomized trial.

• #44 Childhood Central Nervous System Embryonal Tumors Treatment (PDQ®): Treatment – Health Professional Information [NCI]

  https://www.myactivehealth.com/hwcontent/content/nci/ncicdr0000548358.html

  Because embryonal tumors are very rarely metastatic to the bone, bone marrow, or other body sites at the time of diagnosis, studies such as bone marrow aspirates, chest x-rays, or bone scans are not indicated, unless there are symptoms or signs suggesting organ involvement. […] Various clinical and biologic parameters have been shown to be associated with the likelihood of disease control of embryonal tumors after treatment. […] The presence of diffuse (50% of the pathologic specimen) histologic anaplasia has been incorporated as an addition to staging systems. If diffuse anaplasia is found, patients with otherwise average-risk disease are upstaged to high-risk disease. […] There are no standard treatment options for recurrent childhood CNS embryonal tumors. […] For most children, treatment is palliative and disease control is transient in patients previously treated with radiation therapy and chemotherapy, with more than 90% progressing within 12 to 18 months.

• #45

  https://journals.lww.com/ijno/fulltext/2021/04001/diagnosis_and_management_of_central_nervous_system.28.aspx

  Risk stratification is used to determine the intensity of adjuvant treatment regimens. […] With better biological insights, refinement of risk stratification has been proposed in the molecular era based on expected 5-year overall survival into the following groups: low risk (survival 90%), standard risk (survival 75%-90%), high risk (survival 50%-75%), and very high risk (survival <50%). [...] The presence of LC/A histology, TP53 mutation in SHH subgroup, MYC amplification in Group 3, and chromosome 11 loss in Group 4 tumors should also be treated as high-risk disease. [...] Following the completion of planned treatment, it is essential to follow all patients periodically for early detection of relapse (recurrence/progression), if any, as well as timely identification and appropriate management of treatment-related morbidity.

• #46

  https://journals.lww.com/ijno/fulltext/2021/04001/diagnosis_and_management_of_central_nervous_system.28.aspx

  Risk stratification is used to determine the intensity of adjuvant treatment regimens. […] With better biological insights, refinement of risk stratification has been proposed in the molecular era based on expected 5-year overall survival into the following groups: low risk (survival 90%), standard risk (survival 75%-90%), high risk (survival 50%-75%), and very high risk (survival <50%). [...] The presence of LC/A histology, TP53 mutation in SHH subgroup, MYC amplification in Group 3, and chromosome 11 loss in Group 4 tumors should also be treated as high-risk disease. [...] Following the completion of planned treatment, it is essential to follow all patients periodically for early detection of relapse (recurrence/progression), if any, as well as timely identification and appropriate management of treatment-related morbidity.

• #47

  https://journals.lww.com/ijno/fulltext/2021/04001/diagnosis_and_management_of_central_nervous_system.28.aspx

  Risk stratification is used to determine the intensity of adjuvant treatment regimens. […] With better biological insights, refinement of risk stratification has been proposed in the molecular era based on expected 5-year overall survival into the following groups: low risk (survival 90%), standard risk (survival 75%-90%), high risk (survival 50%-75%), and very high risk (survival <50%). [...] The presence of LC/A histology, TP53 mutation in SHH subgroup, MYC amplification in Group 3, and chromosome 11 loss in Group 4 tumors should also be treated as high-risk disease. [...] Following the completion of planned treatment, it is essential to follow all patients periodically for early detection of relapse (recurrence/progression), if any, as well as timely identification and appropriate management of treatment-related morbidity.

• #48 Radiology of Brain Embryonal Tumors | Articl.net

  https://articl.net/resource/radiology-of-brain-embryonal-tumors

  Spectroscopy: Elevated choline peaks with reduced N-acetylaspartate (NAA) and potential lactate/lipid peaks, reflecting high proliferative activity and necrosis. […] Non-contrast CT: Hyperdense masses due to high cellular density, possibly with calcifications. […] Contrast-enhanced CT: Variable enhancement. Useful in surgical planning due to its ability to delineate calcifications and bone involvement. […] Advanced MRI Techniques: Utilization of perfusion and functional MRI enhances the evaluation of tumor vasculature and functional areas, aiding in pre-surgical planning. […] Molecular Imaging: Integration with PET using tracers such as fluorodeoxyglucose (FDG) or amino acid analogs provides metabolic characterization. […] Radiogenomics: Emerging field correlating imaging phenotypes with genetic and molecular features for prognostic modeling and therapy response assessment.

• #49 Radiology of Brain Embryonal Tumors | Articl.net

  https://articl.net/resource/radiology-of-brain-embryonal-tumors

  Spectroscopy: Elevated choline peaks with reduced N-acetylaspartate (NAA) and potential lactate/lipid peaks, reflecting high proliferative activity and necrosis. […] Non-contrast CT: Hyperdense masses due to high cellular density, possibly with calcifications. […] Contrast-enhanced CT: Variable enhancement. Useful in surgical planning due to its ability to delineate calcifications and bone involvement. […] Advanced MRI Techniques: Utilization of perfusion and functional MRI enhances the evaluation of tumor vasculature and functional areas, aiding in pre-surgical planning. […] Molecular Imaging: Integration with PET using tracers such as fluorodeoxyglucose (FDG) or amino acid analogs provides metabolic characterization. […] Radiogenomics: Emerging field correlating imaging phenotypes with genetic and molecular features for prognostic modeling and therapy response assessment.

• #50 Radiology of Brain Embryonal Tumors | Articl.net

  https://articl.net/resource/radiology-of-brain-embryonal-tumors

  Spectroscopy: Elevated choline peaks with reduced N-acetylaspartate (NAA) and potential lactate/lipid peaks, reflecting high proliferative activity and necrosis. […] Non-contrast CT: Hyperdense masses due to high cellular density, possibly with calcifications. […] Contrast-enhanced CT: Variable enhancement. Useful in surgical planning due to its ability to delineate calcifications and bone involvement. […] Advanced MRI Techniques: Utilization of perfusion and functional MRI enhances the evaluation of tumor vasculature and functional areas, aiding in pre-surgical planning. […] Molecular Imaging: Integration with PET using tracers such as fluorodeoxyglucose (FDG) or amino acid analogs provides metabolic characterization. […] Radiogenomics: Emerging field correlating imaging phenotypes with genetic and molecular features for prognostic modeling and therapy response assessment.

• #51 Radiology of Brain Embryonal Tumors | Articl.net

  https://articl.net/resource/radiology-of-brain-embryonal-tumors

  Spectroscopy: Elevated choline peaks with reduced N-acetylaspartate (NAA) and potential lactate/lipid peaks, reflecting high proliferative activity and necrosis. […] Non-contrast CT: Hyperdense masses due to high cellular density, possibly with calcifications. […] Contrast-enhanced CT: Variable enhancement. Useful in surgical planning due to its ability to delineate calcifications and bone involvement. […] Advanced MRI Techniques: Utilization of perfusion and functional MRI enhances the evaluation of tumor vasculature and functional areas, aiding in pre-surgical planning. […] Molecular Imaging: Integration with PET using tracers such as fluorodeoxyglucose (FDG) or amino acid analogs provides metabolic characterization. […] Radiogenomics: Emerging field correlating imaging phenotypes with genetic and molecular features for prognostic modeling and therapy response assessment.

• #52 Radiology of Brain Embryonal Tumors | Articl.net

  https://articl.net/resource/radiology-of-brain-embryonal-tumors

  Spectroscopy: Elevated choline peaks with reduced N-acetylaspartate (NAA) and potential lactate/lipid peaks, reflecting high proliferative activity and necrosis. […] Non-contrast CT: Hyperdense masses due to high cellular density, possibly with calcifications. […] Contrast-enhanced CT: Variable enhancement. Useful in surgical planning due to its ability to delineate calcifications and bone involvement. […] Advanced MRI Techniques: Utilization of perfusion and functional MRI enhances the evaluation of tumor vasculature and functional areas, aiding in pre-surgical planning. […] Molecular Imaging: Integration with PET using tracers such as fluorodeoxyglucose (FDG) or amino acid analogs provides metabolic characterization. […] Radiogenomics: Emerging field correlating imaging phenotypes with genetic and molecular features for prognostic modeling and therapy response assessment.

• #53 Embryonal Tumors | Neupsy Key

  https://neupsykey.com/embryonal-tumors/

  The three main standard imaging phenotypes that can help predict MB molecular subgroups are (1) anatomic location, (2) enhancement pattern, and (3) metastasis. […] As 40-50% of MBs have CSF dissemination at the time of initial diagnosis, preoperative contrast-enhanced MR of the entire neuraxis is recommended. […] The differential diagnosis of MB in adults differs. […] AT/RT is a genetically defined tumor characterized by deletions and biallelic inactivating mutations of the SMARCB1 (a.k.a. hSNF5 or INI1) gene. […] AT/RT is a highly malignant tumor with generally poor prognosis.

• #54 Differential diagnosis of embryonal brain tumors

  https://www.jstage.jst.go.jp/article/neurooncology/21/1/21_9/_article

  Differential diagnosis of embryonal brain tumors […] Among central nervous system CNS tumors, embryonal tumors are classified into three tumor entities: medulloblastoma, CNS primitive neuroectodermal tumor PNET, and atypical teratoid/rhabdoid tumor AT/RT. Differential diagnosis among these three tumor entities is important; in particular, the diagnosis of AT/RT should be a top priority because tumor prognosis is dismal and the therapy strategy for AT/RT is different from other tumors. INI1 immunostaining is useful in diagnosing AT/RT, but cannot always resolve the problems in the pathological diagnosis of AT/RT and related tumors. Taking into account the histological, immunohistochemistry, and clinical findings, we should synthetically diagnose these tumors. Medulloblastoma and CNS PNET should be distinguished from anaplastic ependymoma, glioblastoma, central/extraventricular neurocytoma, immature teratoma, malignant lymphoma, myeloid sarcoma, and Ewing sarcoma/peripheral PNET. Differential diagnosis of these tumors can be performed by the intimate cytological and architectural features and the expression pattern in the panel of immunohistochemical markers. In addition, the detection of amplification of 19q13.42 is a useful tool in differentiating ependymoblastoma/embryonal tumors with abundant neuropil and true rosettes and medulloepithelioma from other tumors.

• #55 Differential diagnosis of embryonal brain tumors

  https://www.jstage.jst.go.jp/article/neurooncology/21/1/21_9/_article

  Differential diagnosis of embryonal brain tumors […] Among central nervous system CNS tumors, embryonal tumors are classified into three tumor entities: medulloblastoma, CNS primitive neuroectodermal tumor PNET, and atypical teratoid/rhabdoid tumor AT/RT. Differential diagnosis among these three tumor entities is important; in particular, the diagnosis of AT/RT should be a top priority because tumor prognosis is dismal and the therapy strategy for AT/RT is different from other tumors. INI1 immunostaining is useful in diagnosing AT/RT, but cannot always resolve the problems in the pathological diagnosis of AT/RT and related tumors. Taking into account the histological, immunohistochemistry, and clinical findings, we should synthetically diagnose these tumors. Medulloblastoma and CNS PNET should be distinguished from anaplastic ependymoma, glioblastoma, central/extraventricular neurocytoma, immature teratoma, malignant lymphoma, myeloid sarcoma, and Ewing sarcoma/peripheral PNET. Differential diagnosis of these tumors can be performed by the intimate cytological and architectural features and the expression pattern in the panel of immunohistochemical markers. In addition, the detection of amplification of 19q13.42 is a useful tool in differentiating ependymoblastoma/embryonal tumors with abundant neuropil and true rosettes and medulloepithelioma from other tumors.

• #56 Molecular diagnostics of CNS embryonal tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4512653/

  Consistent results across different studies using different platforms and methods of detection, however, very well justify the routine use of specific diagnostic and prognostic biomarkers in clinical trials. […] Thus, this review focuses on selected molecular biomarkers that have shown promise to be useful for diagnostic purposes and/or patient stratification into different risk groups and molecular subgroups. […] According to the 2007 WHO classification, medulloblastoma is defined as a grade IV malignant embryonal neoplasm arising in the cerebellum. […] Neuronal immunohistochemical markers such as synaptophysin are typically at least focally positive, and are commonly used in routine diagnostics. […] Associations have been made between histopathological subtype, specific genetic changes, and clinical outcome.

• #57 What Are Embryonal Tumors – Klarity Health Library

  https://my.klarity.health/what-are-embryonal-tumors/

  Embryonal tumours necessitate a urine test, along with biopsy and imaging, for diagnosis and monitoring. Elevated vanillylmandelic acid (VMA) and homovanillic acid (HVA) levels in urine are indicative of neuroblastoma due to their association with increased catecholamine production by tumour cells. […] Imaging involves tests like MRI (Magnetic resonance imaging), CT (Computed tomography), and ultrasounds, which help get a better image of the tumour itself. […] Biopsy uses thin samples of tissue extracted from the patients body. It is studied under a microscope to identify the presence of cancerous cells and how aggressive they are. This helps formulate a course of treatment to prevent its spread as much as possible and combat the cancer. […] Genetic testing is a useful tool in figuring out if a cell has mutations, which can then be studied to know if it cause the cell to develop into cancerous cells. These are usually conducted by using blood or saliva samples and provide results within a few weeks, making them useful in identifying cancer risks as well. […] They can be diagnosed using many methods, like imaging and biopsies.

• #58 Childhood Medulloblastoma and Other Central Nervous System Embryonal Tumors Treatment (PDQ®): Treatment – Health Professional Information [NCI] | Kaiser Permanente

  https://healthy.kaiserpermanente.org/health-wellness/health-encyclopedia/he.childhood-medulloblastoma-and-other-central-nervous-system-embryonal-tumors-treatment-pdq%C2%AE-treatment-health-professional-information-nci.ncicdr0000548358

  Various clinical and biological parameters have been associated with the likelihood of disease control of embryonal tumors after treatment. […] The significance of many of these factors have been shown to be predictive for medulloblastomas, although some are used to assign risk, to some degree, for other embryonal tumors. […] It has become increasingly clear, especially for medulloblastomas, that outcome is also related to the molecular characteristics of the tumor, but this has not been definitively shown for other embryonal tumors. […] Prognosis is poor for patients with medulloepithelioma and ETMR, with 5-year survival rates ranging between 0% and 30%. […] The optimal treatment of childhood nonmedulloblastoma embryonal tumors remains unclear and under study. […] Standard treatment options for children aged 3 years and younger with newly diagnosed nonmedulloblastoma embryonal tumors, excluding AT/RTs, ETMRs, and FOXR2-activated tumors, include the following: Surgery and Adjuvant chemotherapy.

• #59 Embryonal Tumors of the Central Nervous System in Children: The Era of Targeted Therapeutics

  https://www.mdpi.com/2306-5354/5/4/78

  Embryonal tumors (ET) of the central nervous system (CNS) in children encompass a wide clinical spectrum of aggressive malignancies. Until recently, the overlapping morphological features of these lesions posed a diagnostic challenge and undermined discovery of optimal treatment strategies. […] However, with the advances in genomic technology and the outpouring of biological data over the last decade, clear insights into the molecular heterogeneity of these tumors are now well delineated. The major subtypes of ETs of the CNS in children include medulloblastoma, atypical teratoid rhabdoid tumor (ATRT), and embryonal tumors with multilayered rosettes (ETMR), which are now biologically and clinically characterized as different entities. […] The critical issue is proper diagnosis of these entities, which would allow tailored therapy, including intensifying treatment for aggressive variants and de-escalating therapy for those tumors with better prognoses, in order to achieve long-term cures and minimizing treatment-related toxicity.

• #60 Embryonal Tumors of the Central Nervous System in Children: The Era of Targeted Therapeutics

  https://www.mdpi.com/2306-5354/5/4/78

  Over the past decade, a surge genomic and epigenomic data on embryonal tumors of the central nervous system (CNS) in children has dramatically advanced the understanding of tumor biology, paving the way toward improved diagnostic, reclassification, and therapeutic approaches to these formidable malignancies. […] The 2016 WHO classification integrated genetic information to already-existing histopathological data and has enabled more precise classification and diagnosis of these tumors. […] The following section will discuss the major subtypes of pediatric embryonal tumors, which include MB, ATRT, and ETMR, their molecular biology, and the insights it provides in developing targeted therapies. […] The diagnosis of ETMR remains challenging with only histopathological reviews. LIN28A evaluation by immunohistochemistry remains confirmatory. Comparative genomic hybridization array for amplification of the microRNA cluster C19MC at locus 19q13.42 may further secure the diagnosis.

• #61

  https://www.scitechnol.com/peer-review/pediatric-embryonal-tumors-intrue-rosettes-etmrs-presentingas-a-low-grade-glioma-anunusual-case-report-M0ZG.php?article_id=11640

  The 2016 WHO Classification proposed a new integrated diagnostic criterion for C19MC-altered ETMR. If ETMR diagnosis is suggested histologically, then 19q13.42 amplification should be assessed using FISH. If ETMR is diagnosed on the basis of histology alone, the tumors may be diagnosed as ETMR, NOS (not otherwise specified). […] The integrated diagnosis should be based on histology (CNS embryonal tumor with multi-layered rosettes), immunoreactivity (synaptophysin, and the specific biomarker LIN28A), and genetics (amplification of C19MC locus at 19q13.42 by FISH wherever possible) to reliably diagnose this novel aggressive brain tumor.

• #62 Diagnostic aspects of pediatric embryonal tumors of the central nervous system: what should know pediatrician

  https://ouci.dntb.gov.ua/en/works/loR0OQp4/

  Diagnostic aspects of pediatric embryonal tumors of the central nervous system: what should know pediatrician […] Early identification of pediatric central nervous system (CNS) tumors is important in relation to disease prognosis, as well as long-term treatment outcomes, which determine subsequent quality of life. […] The predominance of embryonal tumors (ETs) in early childhood actualizes the problem of timely verification of the diagnosis. […] Factors contributing to the extension of diagnostic time in the presented patient’s cohort include the inability to adequately verbalize complaints in young children, a wide range of clinical presentations, including nonspecific ones, the relatively low incidence of ET in the population and the low level of oncological alertness among specialists.

• #63 Diagnostic aspects of pediatric embryonal tumors of the central nervous system: what should know pediatrician

  https://ouci.dntb.gov.ua/en/works/loR0OQp4/

  The diagnosis was established by a routine screening examination. […] The absence of symptoms was associated with location outside the PCF (p = 0.011) and with younger age (p = 0.053, borderline significance). […] The diagnosis was established in a significantly shorter time if children had symptoms such as nausea and vomiting (p=0.0017), paresis and paralysis (p=0.0059). […] In patients with CNS ETs, statistically significant relationships are revealed between age, histological type, tumor site and certain symptoms. […] Nevertheless, the absence of strictly specific clinical manifestation determines the indications for a careful assessment of the pediatric somatic and neurological status and timely neuroimaging in children when even potential symptoms typical for CNS tumors are identified.

• #64 Diagnostic aspects of pediatric embryonal tumors of the central nervous system: what should know pediatrician

  https://ouci.dntb.gov.ua/en/works/loR0OQp4/

  This determines the need for a more careful assessment of the clinical manifestations and disease-associated symptoms by doctors of all specialties and, especially, primary care specialists. […] Analysis of clinical symptoms at the disease’s onset in pediatric CNS ET in order to determine their associations with the tumor’s characteristics (site, hystologic type) and the patient’s features. […] The most common type of CNS ET in the study group was medulloblastoma (MB; 66.1%). […] The most frequent symptoms in patients with ET were nausea and vomiting (68%), headache (50%), and gait disturbances (25.6%). […] Increased head circumference/bulging fontanel (p = 0.0016) and torticollis (p = 0.0057) were the most common symptoms associated with younger age. […] Headache was predominated symptom in medulloblastoma (p = 2.60 · 10-4) compared to other ETs, and less common in ATRT (p = 1.51 · 10-4), which may be due to the patient’s age.

• #65 Embryonal tumor with multilayered rosettes: Overview of diagnosis and therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10506690/

  Embryonal tumors with multilayered rosettes (ETMR) are rare but aggressive cancers, commonly occurring in children under 3 years of age. […] The current World Health Organization (WHO) diagnostic evaluation can be challenging to implement in a timely manner to allow prompt treatment, particularly in resource-limited healthcare settings. […] These cases highlight the heterogeneous responses to treatment, which remain unpredictable based on current knowledge. […] We discuss the minimal set of key pathological and molecular findings required in order to establish the timely diagnosis of ETMR, the role of different therapies, and future perspectives on the management of this rare and aggressive condition, with the aim of improving clinical outcomes. […] ETMRs typically present as large, well-defined masses with diffusion restriction on MRI.

• #66 Embryonal tumor with multilayered rosettes: Overview of diagnosis and therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10506690/

  Histologically, characteristic ETMR features include multilayered and pseudo-stratified rosette structures and large areas of neuropil, containing a mixture of dendrites, glial cells, and unmyelinated axons. […] In most cases, however, morphological appearances are strongly suggestive of ETMR, and molecular testing is used to prove the diagnosis. […] A combination of neuroradiological (restricted diffusion on MRI), histological (typical multilayered and pseudo-stratified rosette structures and large areas of neuropil), immunohistochemical (LIN28A immunopositivity), and FISH (C19MC amplification) studies are considered the minimal set of key WHO investigations to reach a timely diagnosis in the majority of ETMR cases. […] The key, regardless of healthcare setting, is ensuring a rapid TAT on molecular results to avoid unnecessary delay in initiating treatment for this aggressive condition.

• #67 Embryonal tumor with multilayered rosettes: Overview of diagnosis and therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10506690/

  Histologically, characteristic ETMR features include multilayered and pseudo-stratified rosette structures and large areas of neuropil, containing a mixture of dendrites, glial cells, and unmyelinated axons. […] In most cases, however, morphological appearances are strongly suggestive of ETMR, and molecular testing is used to prove the diagnosis. […] A combination of neuroradiological (restricted diffusion on MRI), histological (typical multilayered and pseudo-stratified rosette structures and large areas of neuropil), immunohistochemical (LIN28A immunopositivity), and FISH (C19MC amplification) studies are considered the minimal set of key WHO investigations to reach a timely diagnosis in the majority of ETMR cases. […] The key, regardless of healthcare setting, is ensuring a rapid TAT on molecular results to avoid unnecessary delay in initiating treatment for this aggressive condition.

• #68 Diagnostic aspects of pediatric embryonal tumors of the central nervous system: what should know pediatrician

  https://ouci.dntb.gov.ua/en/works/loR0OQp4/

  Diagnostic aspects of pediatric embryonal tumors of the central nervous system: what should know pediatrician […] Early identification of pediatric central nervous system (CNS) tumors is important in relation to disease prognosis, as well as long-term treatment outcomes, which determine subsequent quality of life. […] The predominance of embryonal tumors (ETs) in early childhood actualizes the problem of timely verification of the diagnosis. […] Factors contributing to the extension of diagnostic time in the presented patient’s cohort include the inability to adequately verbalize complaints in young children, a wide range of clinical presentations, including nonspecific ones, the relatively low incidence of ET in the population and the low level of oncological alertness among specialists.

• #69 Embryonal Tumor with Multilayered Rosettes (ETMR) | Nationwide Children’s Hospital

  https://www.nationwidechildrens.org/conditions/embryonal-tumor-with-multilayered-rosettes

  Symptoms of brain tumors depend on where they are in the brain, how big they are and the child’s age (under age 3). […] If you are worried about your child’s symptoms or development, reach out to a physician. The sooner your child is diagnosed, the better the chances are of survival. […] To accurately diagnose ETMRs, doctors need to conduct additional testing. They look for a specific mutation on the tumor tissue obtained via a biopsy or surgery depending upon the location of tumor. ETMRs can be misdiagnosed if doctors do not conduct these tests on tumor tissue. […] An ETMR diagnosis is a histological diagnosis. This means tumor tissue is required to make the diagnosis. At Nationwide Children’s, we are able to perform genetic testing, as well.

• #70 Embryonal Tumor with Multilayered Rosettes (ETMR) | Nationwide Children’s Hospital

  https://www.nationwidechildrens.org/conditions/embryonal-tumor-with-multilayered-rosettes

  Symptoms of brain tumors depend on where they are in the brain, how big they are and the child’s age (under age 3). […] If you are worried about your child’s symptoms or development, reach out to a physician. The sooner your child is diagnosed, the better the chances are of survival. […] To accurately diagnose ETMRs, doctors need to conduct additional testing. They look for a specific mutation on the tumor tissue obtained via a biopsy or surgery depending upon the location of tumor. ETMRs can be misdiagnosed if doctors do not conduct these tests on tumor tissue. […] An ETMR diagnosis is a histological diagnosis. This means tumor tissue is required to make the diagnosis. At Nationwide Children’s, we are able to perform genetic testing, as well.

• #71 Frontiers | Pediatric brain tumors: A neuropathologist’s approach to the integrated diagnosis

  https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1143363/full

  Whenever possible, the most specific histologic diagnosis is rendered. […] A pathologist may feel a generic diagnosis most appropriate when a tumor does not conform to the “classic” morphologic description for a WHO entity and/or does not have adequate tissue to fully assess tumor morphology as may occur in the setting of small biopsies. […] Grading is highly dependent on tumor type. […] Molecular testing is a key component to the integrated diagnosis and overall characterization of many CNS tumors. […] A variety of molecular techniques can be used in this stepwise approach including immunohistochemistry, fluorescence in situ hybridization (FISH), and polymerase chain reaction (PCR). […] The formulation of an integrated diagnosis should take into account all pertinent clinical, radiographic, histologic, immunohistochemical, and molecular information.

• #72

  https://journals.lww.com/ijpm/fulltext/2022/65001/embryonal_tumors_in_the_who_cns5_classification__a.11.aspx

  Embryonal tumors are a heterogenous group of neoplasms mostly defined by recurrent genetic driver events. They have been, previously, broadly classified as either medulloblastoma or supratentorial primitive neuroectodermal tumors (PNETs). […] The importance of molecular characteristics in CNS embryonal tumors is well represented by the identification of different molecular groups and subgroups in medulloblastoma. […] The combination of histopathological and molecular features reflects the complexity of all these tumors and gives critical information in terms of prognosis and therapy. This encourages the use of a layered diagnostic report with the integrated diagnosis at the top, succeeded by layers including the histological, molecular, and other essential details. […] The most important change in CNS5 is the identification of three molecular sub-groups defined by DNA methylation and/or gene expression profiling.

• #73

  https://journals.lww.com/ijpm/fulltext/2022/65001/embryonal_tumors_in_the_who_cns5_classification__a.11.aspx

  The definitive diagnosis relies on the molecular detection of a heterozygous ITD in exon 15 of the BCOR gene. As for other embryonal tumors, DNA methylation and gene expression profiles are reliable methods to identify CNS tumors with BCOR ITD from other CNS tumors. […] With this term, WHO CNS5 defines a CNS tumor with embryonal histology and immunophenotype in which no alteration that would classify it as one of the molecularly defined CNS embryonal tumors can be detected or cases that, for any reason, are not susceptible to analysis. […] CNS5 exemplifies the concept that today the pathological diagnosis of CNS embryonal tumors is the result of a complex integration of histology, immunohistochemistry, and molecular features, and such diagnosis represents the basis for clinical decision making.

• #74 Embryonal tumors – Augusta HealthSearchClose SearchSearch IconSearch IconClose Search IconMobile Menu IconMobile Menu Close IconInstagramFacebookTwitterYoutube

  https://www.augustahealth.com/disease/embryonal-tumors/

  Embryonal tumors of the central nervous system are cancerous (malignant) tumors that start in the fetal (embryonic) cells in the brain. […] The process of diagnosis usually starts with a medical history review and a discussion of signs and symptoms. Tests and procedures used to diagnose embryonal tumors include those below, but additional tests may be needed to find out if the cancer has spread. […] Imaging tests can help determine the location and size of the brain tumor. These tests are also very important to identify pressure or blockage of the CSF pathways. […] A biopsy is usually not done before the tumor is surgically removed, but it may be recommended if the imaging features aren’t typical of embryonal tumors. […] The fluid is tested to look for tumor cells or other abnormalities. This test is only done after managing the pressure in the brain or removing the tumor. […] To ensure correct diagnosis and treatment, children with embryonal tumors need to be seen at a center that has a team of pediatric specialists with expertise and experience in pediatric brain tumors, with access to the latest technology and treatments for children.

• #75 Embryonal tumors | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/embryonal-tumors?content_id=CON-20367936

  Embryonal tumors are a type of brain cancer, also called malignant brain tumor. This means the cells that make up the tumor can grow to invade the brain and cause damage to healthy brain tissue. […] If your child is diagnosed with an embryonal tumor, seek care at a medical center that has experience caring for children with brain tumors. Medical centers with expertise in pediatric brain tumors provide access to the latest treatments and technology to ensure proper diagnosis and treatment. […] Your healthcare team reviews your child’s medical history and symptoms. Tests and procedures used to diagnose embryonal tumors include: […] Imaging tests make pictures of the brain. The pictures can show the size and location of the tumor. The pictures may show pressure or blockages of the fluid in the brain. CT and MRI are often used to diagnose brain tumors. Advanced techniques, such as perfusion MRI and magnetic resonance spectroscopy, also may be used.

• #76 Medulloblastoma: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1962091-overview

  Symptoms are often progressive over weeks to months, and it is not uncommon for patients to have an extended symptomatic period prior to initial diagnosis. […] Imaging of the entire craniospinal axis is an essential part of the initial diagnostic evaluation. […] No specific biochemical test exists for the presence of medulloblastoma, although several molecular studies have revealed that histologically identical medulloblastomas are composed of distinct subgroups with different prognosis. […] Imaging is the primary mode of monitoring residual disease, efficacy of continuing medical treatment, and recurrence or metastasis. […] Surgery is still the mainstay initial therapy for medulloblastoma, as both a tool for diagnosis and as a risk-stratification factor. […] The recommendation is still to go for the safest resection possible, and if a second surgery is needed it is better to do it before starting the adjuvant treatment.

• #77

  https://journals.lww.com/ijno/fulltext/2021/04001/diagnosis_and_management_of_central_nervous_system.28.aspx

  Risk stratification is used to determine the intensity of adjuvant treatment regimens. […] With better biological insights, refinement of risk stratification has been proposed in the molecular era based on expected 5-year overall survival into the following groups: low risk (survival 90%), standard risk (survival 75%-90%), high risk (survival 50%-75%), and very high risk (survival <50%). [...] The presence of LC/A histology, TP53 mutation in SHH subgroup, MYC amplification in Group 3, and chromosome 11 loss in Group 4 tumors should also be treated as high-risk disease. [...] Following the completion of planned treatment, it is essential to follow all patients periodically for early detection of relapse (recurrence/progression), if any, as well as timely identification and appropriate management of treatment-related morbidity.

• #78 Childhood Medulloblastoma & Other CNS Embryonal Tumors Treatment – NCI

  https://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq

  Cancer treatments can cause side effects. Which side effects your child might have depends on the type of treatment they receive, the dose, and how their body reacts. […] Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated to see how well the treatment is working.

• #79 Rare Embryonal Tumors of the Central Nervous System: International Registry | Clinical Research Trial Listing

  https://www.centerwatch.com/clinical-trials/listings/NCT05711992/rare-embryonal-tumors-of-the-central-nervous-system-international-registry

  Central nervous system (CNS) tumors are the most common solid malignancies among children. […] This international registry aims to establish a large multicenter database of pediatric and young adult patients with rare embryonal tumors of the central nervous system and describe the clinical presentations, diagnostics, treatment regimens, and outcomes. […] Objectives of the registry are 1) to evaluate prognostic factors, 2) to identify diagnostic and treatment gaps, 3) to investigate the characteristics and outcome of the disease with different treatment regimens, and 4) to generate data-based prospective diagnostic and treatment recommendations. […] Diagnosis of different subtypes of rare embryonal tumors can be extremely challenging. […] Because of limited data, there are no standard treatment recommendations for patients with rare embryonal tumors. […] Considering the lack of molecular genetic tests done among retrospective cases, the investigators will also include all patients diagnosed with neuroblastoma and ganglioneuroblastoma. […] Quality control and data management will be conducted by the Immune Oncology Research Institute.

• #80 Rare Embryonal Tumors of the Central Nervous System: International Registry | Clinical Research Trial Listing

  https://www.centerwatch.com/clinical-trials/listings/NCT05711992/rare-embryonal-tumors-of-the-central-nervous-system-international-registry

  Central nervous system (CNS) tumors are the most common solid malignancies among children. […] This international registry aims to establish a large multicenter database of pediatric and young adult patients with rare embryonal tumors of the central nervous system and describe the clinical presentations, diagnostics, treatment regimens, and outcomes. […] Objectives of the registry are 1) to evaluate prognostic factors, 2) to identify diagnostic and treatment gaps, 3) to investigate the characteristics and outcome of the disease with different treatment regimens, and 4) to generate data-based prospective diagnostic and treatment recommendations. […] Diagnosis of different subtypes of rare embryonal tumors can be extremely challenging. […] Because of limited data, there are no standard treatment recommendations for patients with rare embryonal tumors. […] Considering the lack of molecular genetic tests done among retrospective cases, the investigators will also include all patients diagnosed with neuroblastoma and ganglioneuroblastoma. […] Quality control and data management will be conducted by the Immune Oncology Research Institute.

• #81 Embryonal tumours | Brain and spinal cord tumours | Cancer Research UK

  https://www.cancerresearchuk.org/about-cancer/brain-tumours/types/embryonal-tumours

  You might have chemotherapy after surgery or with radiotherapy. Chemotherapy uses cytotoxic drugs to kill tumours cells. It helps to reduce the risk of the tumour coming back or spread to other parts of the brain. […] Doctors are always trying to improve the diagnosis and treatment of brain tumours. As part of your treatment, your doctor might ask you to take part in a clinical trial. This might be to test a new treatment or look at different combinations of existing treatments.

• #82 Embryonal tumors | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/embryonal-tumors

  Does my child need more tests? […] What are my child’s treatment options? […] What are the potential risks for these treatment options? […] Do any of the treatments cure the cancer? […] Can I have a copy of the pathology report? […] How much time can I take to consider the treatment options? […] Are there brochures or other printed materials that I can take with me? What websites do you recommend?

• #83 Embryonal tumours | The Brain Tumour Charity

  https://www.thebraintumourcharity.org/brain-tumour-diagnosis-treatment/types-brain-tumour-children/embryonal-tumours/

  Radiotherapy is a type of treatment that uses beams of charged particles to target and destroy brain tumour cells. […] Chemotherapy is a treatment that uses anti-cancer drugs to target tumour cells by interrupting, or stopping, their growth. […] It is difficult to give an estimated prognosis for embryonal brain tumours. […] Your medical team will be able to give your child a prognosis that is personalised to them.

• #84 Embryonal tumours | The Brain Tumour Charity

  https://www.thebraintumourcharity.org/brain-tumour-diagnosis-treatment/types-brain-tumour-children/embryonal-tumours/

  Radiotherapy is a type of treatment that uses beams of charged particles to target and destroy brain tumour cells. […] Chemotherapy is a treatment that uses anti-cancer drugs to target tumour cells by interrupting, or stopping, their growth. […] It is difficult to give an estimated prognosis for embryonal brain tumours. […] Your medical team will be able to give your child a prognosis that is personalised to them.

• #85

  https://journals.lww.com/ijno/fulltext/2021/04001/diagnosis_and_management_of_central_nervous_system.28.aspx

  Central nervous system (CNS) embryonal tumors exhibit significant biological heterogeneity and pose challenges in diagnosis and clinical management. […] Advances in understanding the molecular alterations of these tumors, using genomic and epigenomic platforms, have led to refinement in their diagnosis, classification, and guiding clinical management. […] However, what has remained constant is the fact that embryonal tumors pose a challenge in diagnosis as well as management and are generally associated with a poor prognosis, excepting for an favorable biology observed in localized medulloblastoma, which has an excellent long-term survival. […] The nomenclature of embryonal tumor based on the cell of origin was proposed initially by Bailey and Cushing, who laid down the foundation for the classification of tumors of the CNS.

• #86 Molecular diagnostics of CNS embryonal tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4512653/

  A downstream element in the SHH signaling pathway, SUFU is mutated in the germline of some infants with medulloblastoma. […] It is currently unclear, whether or not mutations of SHH pathway genes are restricted to tumors that belong to the SHH group of medulloblastomas as identified through clustering of transcriptional profiles. […] In summary, extensive genetic investigations of embryonal brain tumors in recent years has significantly contributed to a refined classification of these tumors based on their distinct clinical, histopathological and molecular features. […] Consistently reported molecular prognostic markers will for the first time be exploited for risk stratification in upcoming clinical trials, especially in medulloblastoma, which is an important breakthrough in brain tumor research.

• #87 Embryonal tumors – Augusta HealthSearchClose SearchSearch IconSearch IconClose Search IconMobile Menu IconMobile Menu Close IconInstagramFacebookTwitterYoutube

  https://www.augustahealth.com/disease/embryonal-tumors/

  Embryonal tumors of the central nervous system are cancerous (malignant) tumors that start in the fetal (embryonic) cells in the brain. […] The process of diagnosis usually starts with a medical history review and a discussion of signs and symptoms. Tests and procedures used to diagnose embryonal tumors include those below, but additional tests may be needed to find out if the cancer has spread. […] Imaging tests can help determine the location and size of the brain tumor. These tests are also very important to identify pressure or blockage of the CSF pathways. […] A biopsy is usually not done before the tumor is surgically removed, but it may be recommended if the imaging features aren’t typical of embryonal tumors. […] The fluid is tested to look for tumor cells or other abnormalities. This test is only done after managing the pressure in the brain or removing the tumor. […] To ensure correct diagnosis and treatment, children with embryonal tumors need to be seen at a center that has a team of pediatric specialists with expertise and experience in pediatric brain tumors, with access to the latest technology and treatments for children.

• #88 Molecular diagnostics of CNS embryonal tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4512653/

  A downstream element in the SHH signaling pathway, SUFU is mutated in the germline of some infants with medulloblastoma. […] It is currently unclear, whether or not mutations of SHH pathway genes are restricted to tumors that belong to the SHH group of medulloblastomas as identified through clustering of transcriptional profiles. […] In summary, extensive genetic investigations of embryonal brain tumors in recent years has significantly contributed to a refined classification of these tumors based on their distinct clinical, histopathological and molecular features. […] Consistently reported molecular prognostic markers will for the first time be exploited for risk stratification in upcoming clinical trials, especially in medulloblastoma, which is an important breakthrough in brain tumor research.

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