Materiały źródłowe

• #1 Embryonal tumors – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/embryonal-tumor/symptoms-causes/syc-20579617

  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. […] The cause of an embryonal tumor often isn’t known. This cancer causes a growth of cells in the brain. The growth involves cells that are left over from fetal development, called embryonal cells. […] Embryonal tumors start when embryonal cells develop changes in their DNA. A cell’s DNA holds the instructions that tell the cell what to do. In healthy cells, the DNA gives instructions to grow and multiply at a set rate. The instructions tell the cells to die at a set time. In cancer cells, the DNA changes give different instructions. The changes tell the cancer cells to grow and multiply quickly. Cancer cells can keep living when healthy cells would die. This causes too many cells.

• #2 Embryonal tumors – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/embryonal-tumor/cdc-20367985

  Embryonal tumors are growths of cells that happen in the brain. The growths involve cells that are left over from fetal development, called embryonal cells. […] The cause of an embryonal tumor often isn’t known. This cancer causes a growth of cells in the brain. The growth involves cells that are left over from fetal development, called embryonal cells. […] Embryonal tumors start when embryonal cells develop changes in their DNA. A cell’s DNA holds the instructions that tell the cell what to do. In healthy cells, the DNA gives instructions to grow and multiply at a set rate. The instructions tell the cells to die at a set time. In cancer cells, the DNA changes give different instructions. The changes tell the cancer cells to grow and multiply quickly. Cancer cells can keep living when healthy cells would die. This causes too many cells.

• #3

  https://braintumourresearch.org/pages/types-of-brain-tumours-embryonal-tumours?srsltid=AfmBOoqyPur_83lKgJL43MoI7A3VGPW-EZdRrz-iDJN17TXaiHCJxyIB

  Embryonal brain tumours develop from cells left over from when the embryo was forming in the womb, but have remained in the brain after the child has been born. […] In most cases, the cause of an embryonal tumour is not known. However there are certain inherited diseases that increase the risk of developing this type of tumour, including Turcot syndrome, Rubinstein-Taybi syndrome, Nevoid basal cell carcinoma (Gorlin) syndrome, Li-Fraumeni syndrome and Faconi anemia.

• #4 Medulloblastoma: Practice Essentials, Background, Pathophysiology

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

  Medulloblastoma is a type of embryonal tumor. Embryonal tumors were described over the years as a collection of histologic entities that includes medulloblastoma and also included medulloepithelioma, CNS neuroblastoma, CNS ganglioneuroblastoma and atypical teratoid/rhabdoid tumor (ATRT) as well as primitive neuroectodermal tumors (PNET). […] Medulloblastoma accounts for 64.3% of all embryonal tumors in pediatric patients (0-19 years old), according to the Central Brain Tumor Registry of the United States (CBTRUS). […] Overall ratio tend to be 1.5:1 for males. […] Among all age group, the reports from CBTRUS citing the embryonal tumor group together, with total incidence rate of 0.25 per 100,000 per year with slight male predominance (0.29 vs. 0.2).

• #5 Embryonal Tumors – Holland-Frei Cancer Medicine – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK13746/

  Embryonal tumors of the CNS comprise a group of tumors that share a histologically similar, undifferentiated morphology and represent the most common malignant brain tumor group in children (21%). […] The peak incidence occurs between 3 and 4 years of age and there is a male predilection of 1.5- to 2- fold. […] Treatment groups designated high risk and standard risk are created based upon the criteria of age greater than or less than 3 years, residual tumor greater than or less than 1.5 cm2, and the presence or absence of metastatic disease on neuroimaging or cerebral spinal fluid (CSF) sampling. […] Age younger than 3 years is predictive of a poor outcome. […] The role of complete surgical resection has not been established in this tumor. […] No effective treatment for AT/RT has yet been found.

• #6 Embryonal tumors | UM Health-Sparrow

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

  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. […] The cause of an embryonal tumor often isn’t known. This cancer causes a growth of cells in the brain. The growth involves cells that are left over from fetal development, called embryonal cells. […] Embryonal tumors start when embryonal cells develop changes in their DNA. A cell’s DNA holds the instructions that tell the cell what to do. In healthy cells, the DNA gives instructions to grow and multiply at a set rate. The instructions tell the cells to die at a set time. In cancer cells, the DNA changes give different instructions. The changes tell the cancer cells to grow and multiply quickly.

• #7 Childhood Medulloblastoma and Other CNS Embryonal Tumors (PDQ®) – NCI

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

  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. […] Various clinical and biological parameters have been associated with the likelihood of disease control of embryonal tumors after treatment. […] 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.

• #7 Childhood Medulloblastoma and Other CNS Embryonal Tumors (PDQ®) – NCI

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

  Patients with disseminated CNS disease at diagnosis are at highest risk of disease relapse. […] Age younger than 3 years at diagnosis portends an unfavorable outcome for those with medulloblastoma and, possibly, other embryonal tumors. […] As a predictor of outcome, postoperative MRI measurement of the amount of residual disease after definitive surgery has been supplanted by extent of resection after surgery. […] In older studies, the extent of resection for medulloblastomas was found to be related to survival. […] For other embryonal tumors, histological variations have not been associated with differing outcomes. […] In one study, CSF copy number variations, similar to those found in the primary tumors, were prognostic of relapse when present after radiation therapy or during or after chemotherapy.

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

  https://www.peacehealth.org/medical-topics/id/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. […] Various clinical and biological parameters have been associated with the likelihood of disease control of embryonal tumors after treatment. […] 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.

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

  https://www.peacehealth.org/medical-topics/id/ncicdr0000548358

  Prognosis is poor for patients with medulloepithelioma and ETMR, with 5-year survival rates ranging between 0% and 30%. […] Patients with disseminated CNS disease at diagnosis are at highest risk of disease relapse. […] Nonmedulloblastoma embryonal tumors and pineoblastomas may also be disseminated at the time of diagnosis, although the incidence of dissemination may be somewhat less than that of medulloblastomas, with dissemination at diagnosis being documented in approximately 10% to 20% of patients. […] The optimal treatment of childhood nonmedulloblastoma embryonal tumors remains unclear and under study. […] Studies applying unsupervised clustering of DNA methylation patterns for nonmedulloblastoma embryonal tumors found that approximately one-half of these tumors diagnosed as nonmedulloblastoma embryonal tumors showed molecular profiles characteristic of other known pediatric brain tumors. […] These observations highlight the utility of molecular characterization to assign this class of tumors to their appropriate biology-based diagnosis.

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

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

  The exact cause of ETMRs is not fully understood. Like many cancers, it likely results from a mistake within brain cells that have not turned into their final form yet (embryonal or fetal cells). Something goes wrong with the cells before they can become their destined type of brain cell. ETMRs can occur in various parts of the central nervous system including the cerebellum, cerebral hemispheres, ventricles, brainstem and spinal cord. […] Doctors do not know why these tumors develop. They’ve found that in most ETMRs, genes on an area in one specific chromosome (c19mc) get amplified. Amplified means the body naturally makes more copies of the ETMR genes. This change is thought to play a key role in the development and progression of ETMRs. In a small number of cases, these tumors have a DICER1 mutation or have changes in the way genes are turned on and off that are similar to ETMRs involving C19mc. Because ETMRs commonly occur in infants and very young children, some researchers propose that ETMRs may develop from primitive cells or stem cells.

• #10 Embryonal tumor with multilayered rosettes | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/embryonal-tumour-with-multilayered-rosettes?lang=us

  Embryonal tumors with multilayered rosettes (ETMR) are rare small round blue cell tumor of the central nervous system. They are one of the most aggressive brain tumors usually encountered in children and are WHO grade 4 tumors. […] The terminological changes have resulted from the presence of amplification of the C19MC microRNA cluster on chromosome 19 in both CNS PNET and ETANTR, suggesting that these are the one entity with variable growth pattern. […] Amplification of the C19MC region on chromosome 19 (19q13.42) has been identified as characteristic of these tumors, present in approximately 90% of cases. […] If C19MC amplification is absent, then these tumors are known as ETMR-NOS even if other mutations (e.g. DICER1) are identified.

• #11 Molecular mechanism and therapeutic strategies for embryonal tumors with multilayered rosettes in children (Review)

  https://www.spandidos-publications.com/10.3892/mco.2025.2825?text=fulltext

  Embryonal tumors with multilayered rosettes (ETMR) are relatively rare but highly aggressive intracranial tumors that mainly occur in children under four years of age. […] The five-year overall survival (OS) rate of patients with ETMR remains 30%. […] ETMR are molecularly characterized by distinct DNA methylation signatures and dysregulated expression of oncogenic miRNAs. […] C19MC amplification and TTYH1 fusion are signature gene changes in ETMR, which are observed in ~90% of ETMR cases. […] Biallelic mutation in DICER1 is the second most common genetic event and is present in ~5% of patients with ETMR, occurring exclusively in tumors lacking C19MC amplification. […] Both C19MC amplification and DICER1 mutations may have common downstream mechanisms, the LIN28A/let-7 pathway, and miRNAs belonging to the let-7 miRNA family are considered oncogenes.

• #12 Molecular mechanism and therapeutic strategies for embryonal tumors with multilayered rosettes in children (Review)

  https://www.spandidos-publications.com/10.3892/mco.2025.2825?text=fulltext

  Currently, DICER1 is considered the first ETMR susceptibility gene and a potential ETMR driver. […] C19MC amplification is an indication of a gene change. DICER1 mutation and MIR17HG amplification mainly occur in C19MC cases and influence the miRNA process as well as C19MC. […] High LIN28A expression is a diagnostic marker of ETMR. […] The current treatment options for ETMR include maximum surgical excision and adjuvant chemotherapy, high-dose chemotherapy with stem cell salvage, and focal or whole-brain whole-spinal radiation therapy. […] The treatment of patients with ETMR has only slightly improved, and the five-year OS rate remains 30%. […] Therefore, there is an urgent need to translate the molecular biology of ETMR into effective therapeutic measures.

• #13 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). […] AT/RT is a genetically defined tumor characterized by deletions and biallelic inactivating mutations of the SMARCB1 (a.k.a. hSNF5 or INI1) gene. […] Loss of the SMARCB1 protein in AT/RT results in unopposed expression of LIN28B (a key gene in embryonic development and for maintaining pluripotency in stem cells). […] Molecular profiling has identified three molecularly and clinically distinct AT/RT subgroups, currently designated as ATRT-TYR, ATRT-SHH, and ATRT-MYC.

• #14 Aggressive Infantile Embryonal Tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3674573/

  Many of the molecular studies performed thus far have included a subset of medulloblastoma from infants, primarily as a means to show that specific molecules are markers of prognosis independent of young age and other high-risk clinical factors. However, no study has definitively confirmed that the incidence, distribution, and clinical impact of the molecular alterations described for medulloblastoma thus far are equally representative of the infant population in general. […] Molecular genetic investigations have demonstrated that atypical teratoid/rhabdoid tumors are distinct from other embryonal tumors, in that the vast majority demonstrates monosomy 22 or deletions of chromosome band 22q11. Inactivating deletions or mutations of the tumor suppressor gene hSNF5/INI-1, located in the chromosomal region 22q11.2, are now regarded as a crucial step in the molecular pathogenesis of most atypical teratoid/rhabdoid tumors.

• #14 Aggressive Infantile Embryonal Tumors

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3674573/

  Embryonal tumors are the most common brain tumors in infants less than 36 months of age. […] The etiologies of infant medulloblastoma are unknown for most patients. There have not been conclusive links between parental occupations or exposures in the development of medulloblastoma, although in some studies parental pesticide use, occupational contact with hydrocarbons and metals, and exposure to N-nitroso compounds have been linked with a higher likelihood of development of medulloblastoma. […] Several familial cancer syndromes predispose to an increase in risk of developing medulloblastoma in infancy, including TP53 germline mutation syndromes (Li-Fraumeni), PTCH mutations resulting in the nevoid basal cell carcinoma syndrome (Gorlins), and APC mutations characterized in Turcots syndrome.

• #15 Molecular and clinicopathologic characteristics of CNS embryonal tumors with BRD4::LEUTX fusion | Acta Neuropathologica Communications | Full Text

  https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-024-01746-7

  Central nervous system (CNS) embryonal tumors are a heterogeneous group of high-grade malignancies, and the increasing clinical use of methylation profiling and next-generation sequencing has led to the identification of molecularly distinct subtypes. […] One proposed tumor type, CNS tumor with BRD4::LEUTX fusion, has been described. […] Overall, this case series provides additional evidence for this as a distinct tumor type defined by the presence of a specific fusion as well as a distinct DNA methylation signature. […] These are rare tumors, but important to recognize, as they are genomically and epigenetically distinct from other CNS embryonal neoplasms. […] The BRD4 gene plays a crucial role in transcriptional regulation and in development, it maintains stem cell pluripotency. Dysregulation of BRD4 has been linked to various cancers, where it contributes to cell proliferation and tumor progression.

• #16 Molecular mechanism and therapeutic strategies for embryonal tumors with multilayered rosettes in children (Review)

  https://www.spandidos-publications.com/10.3892/mco.2025.2825

  High LIN28A expression is a diagnostic marker of ETMR. […] The current treatment options for ETMR include maximum surgical excision and adjuvant chemotherapy, high-dose chemotherapy with stem cell salvage, and focal or whole-brain whole-spinal radiation therapy. […] The treatment of patients with ETMR has only slightly improved, and the five-year OS rate remains 30%. […] Therefore, there is an urgent need to translate the molecular biology of ETMR into effective therapeutic measures.

• #16 Molecular mechanism and therapeutic strategies for embryonal tumors with multilayered rosettes in children (Review)

  https://www.spandidos-publications.com/10.3892/mco.2025.2825

  Embryonal tumors with multilayered rosettes (ETMR) are relatively rare but highly aggressive intracranial tumors that mainly occur in children under four years of age. […] The five-year overall survival (OS) rate of patients with ETMR remains 30%. […] ETMR are molecularly characterized by distinct DNA methylation signatures and dysregulated expression of oncogenic miRNAs. […] C19MC amplification or fusion was found in 90% of patients with ETMR, and is considered the only major recurrent genomic alteration reported in ETMR to date. […] C19MC amplification and tumor suppressor p53 deletion are significant factors that drive undifferentiated hepatic embryonic sarcoma development. […] DICER1 is considered the first ETMR susceptibility gene and a potential ETMR driver. […] Generally, there are relatively few frequent gene mutations affecting the miRNA pathway, including the amplification of the C19MC and miR-17-92 clusters and mutation of the miRNA-processing gene, DICER1.

• #17 Embryonal Tumor: What It Is, Symptoms, Treatment & Prognosis

  https://my.clevelandclinic.org/health/diseases/embryonal-tumors

  An embryonal tumor is a type of brain tumor made up of fast-growing cells that are left over after fetal development (embryonic cells). […] Sometimes, extra embryonic cells remain in your childs brain after birth. This leads to the formation of embryonal tumors. […] A tumor happens when cells grow and divide more often than they should. Researchers arent sure why leftover embryonic cells turn into embryonal tumors. […] The following inherited conditions make your child more likely to develop a medulloblastoma embryonal tumor: Turcot syndrome, Rubinstein-Taybi syndrome, Gorlin syndrome, Li-Fraumeni syndrome, Fanconi anemia.

• #18 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. […] Certain genetic conditions increase the risk of childhood medulloblastoma. […] Childhood medulloblastoma is caused by certain changes to the way brain cells function, especially how they grow and divide into new cells. Often, the exact cause of the cell changes is unknown. […] The risk for medulloblastoma is increased in people who have any of the following inherited diseases: Turcot syndrome, Rubinstein-Taybi syndrome, Nevoid basal cell carcinoma (Gorlin) syndrome, Li-Fraumeni syndrome, Fanconi anemia. […] Pineoblastoma is linked with inherited changes in the retinoblastoma (RB1) gene. A child with the inherited form of retinoblastoma (cancer that forms in the tissues of the retina) has an increased risk of pineoblastoma.

• #19 Central Nervous System Embryonal Tumors Treatment | Montefiore Einstein Comprehensive Cancer Center | Patient Care | Montefiore Einstein

  https://montefioreeinstein.org/cancer/types/childhood/central-nervous-system-embryonal-tumors-treatment

  Medulloblastoma and other central nervous system (CNS) embryonal tumors may begin in embryonic (fetal) cells that remain in the brain after birth. […] Certain genetic conditions increase the risk of childhood medulloblastoma. […] Childhood medulloblastoma is caused by certain changes to the way brain cells function, especially how they grow and divide into new cells. Often, the exact cause of the cell changes is unknown. […] The risk for medulloblastoma is increased in people who have any of the following inherited diseases: Turcot syndrome, Rubinstein-Taybi syndrome, Nevoid basal cell carcinoma (Gorlin) syndrome, Li-Fraumeni syndrome, Fanconi anemia. […] Genetic counseling may be done for children with medulloblastoma or pineoblastoma. […] Pineoblastoma is linked with inherited changes in the retinoblastoma (RB1) gene. A child with the inherited form of retinoblastoma (cancer that forms in the tissues of the retina) has an increased risk of pineoblastoma. […] Symptoms of medulloblastoma, other CNS embryonal tumors, and pineoblastoma depend on the child’s age and where the tumor is. […] Certain factors affect prognosis (chance of recovery) and treatment options.

• #20 Embryonal tumours | The Brain Tumour Charity

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

  Embryonal tumours are brain tumours that develop from embryonic cells. These are cells left over from when we were growing in the womb as an embryo. […] Embryonal tumours are brain tumours that develop from cells left over from when we are developing in the womb. These cells are called embryonic cells. They are usually harmless, but they can sometimes lead to a tumour starting. […] Not all embryonal tumours are cancerous. It depends on the type of tumour and how much it has developed. […] Most embryonal tumours tend to be diagnosed as Grade 4, which is considered to be cancerous. But, these tumours are sometimes diagnosed as low grade, which are considered benign. […] Embryonal tumours are more common in children and young adults. About 20-25% of childhood brain tumours are embryonal tumours. […] Nearly three-quarters (73%) of these tumours are medulloblastomas.

• #21 Pediatric Brain Tumors | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/pediatric-brain-tumors

  Up to 25 percent of nervous system tumors that occur in infants and children are tumors made up of poorly-differentiated neuroepithelia cells. […] The two main types of embryonal tumors are: […] Primitive neuroectodermal tumor (PNET). This most common embryonal tumor can arise anywhere in the nervous system but typically appears in the cerebellum. […] Atypical teratoid/rhabdoid tumor. Ninety percent of patients with these tumors are age 2 or younger. Approximately 90 percent of these tumors have a chromosomal abnormality involving chromosome 22.

• #22

  https://www.nicklauschildrens.org/conditions/embryonal-brain-tumors

  Embryonic (fetal) cells are a type of brain cell that remains in the brain after birth and while embryonic tumors can occur at any age they most often happen in babies and young children. […] The exact cause of embryonal brain tumors is not fully understood however changes (mutations) in cell genes, some of which may be inherited from parents or occur spontaneously may result in these tumors forming. […] Other than exposure to radiation, there are no known environmental causes of childhood brain tumors.

• #23 Brain Tumor | 5-Minute Pediatric Consult

  https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617763/all/Brain_Tumor?q=Abscess+Brain

  Embryonal tumors are a heterogenous group of tumors that arise from malignant embryonic cells. […] Most common embryonal tumor (60%) is medulloblastoma (cerebellum). […] No specific causative agents are known, but there is an association with exposure to ionizing radiation, other malignancies, familial/heritable diseases, immunosuppression/immunodeficiency (CNS lymphoma). […] Molecular markers and variants of individual tumor types are being identified.

• #24 Brain and Spinal Cord Tumors – Liv Hospital

  https://www.livhospital.com/brain-and-spinal-cord-tumors

  These tumors develop from embryonal cells in the central nervous system during fetal development. After birth, most embryonal tumors in children become malignant. These tumors tend to grow rapidly and may spread to other parts of the brain and spinal cord. […] The exact cause of brain and spinal cord tumors is not fully understood. Researchers have found that some chemical changes in normal brain cells may lead to the development of brain tumors. Most brain tumors involve abnormalities in genes that control the cell cycle (growth, division, and death). These abnormalities result in uncontrolled cell growth. […] Apart from exposure to radiation, childhood brain tumors have no known lifestyle or environmental causes. It’s important to remember that if your child has a brain tumor, there is nothing you or your child can do to prevent it.

• #25 Causes of Medulloblastoma | medulloblastoma.org

  https://medulloblastoma.org/medullo-facts/causes-of-medulloblastoma/

  Experts dont yet know what causes medulloblastoma. It starts when changes to genes occur that affect how cells function. But why those genetic changes occur is not known. […] A very small number of cases might be related to a genetic trait that can be passed down in a family. However, the vast majority of medulloblastoma cases are what is called sporadic, which means the cause is unknown. […] Nothing has been found to date that ties medulloblastoma to a certain geographic region or to environmental exposure. […] Medulloblastoma is an embryonal tumor. That means the tumor forms in cells left over from fetal development (embryonal cells). The tumor begins when there is an uncontrolled growth of these types of cells in the brain. But why this growth occurs is unknown.

• #26 Embryonal tumors – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/embryonal-tumor/symptoms-causes/syc-20579617

  The cancer cells might form a mass called a tumor. The tumor can grow and press on parts of the brain. The cancer cells also can travel in the fluid that supports the brain and spine. This can spread the cancer to other parts of the brain and spinal cord. When cancer spreads, it’s called metastatic cancer.

• #27 Embryonal tumors – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/embryonal-tumor/cdc-20367985

  The cancer cells might form a mass called a tumor. The tumor can grow and press on parts of the brain. The cancer cells also can travel in the fluid that supports the brain and spine. This can spread the cancer to other parts of the brain and spinal cord. When cancer spreads, it’s called metastatic cancer.

• #28 Embryonal tumors | UM Health-Sparrow

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

  The cancer cells might form a mass called a tumor. The tumor can grow and press on parts of the brain. The cancer cells also can travel in the fluid that supports the brain and spine. This can spread the cancer to other parts of the brain and spinal cord. When cancer spreads, it’s called metastatic cancer.

• #29 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

  Prognosis is poor for patients with medulloepithelioma and ETMR, with 5-year survival rates ranging between 0% and 30%. […] Patients with disseminated CNS disease at diagnosis are at highest risk of disease relapse. […] Nonmedulloblastoma embryonal tumors and pineoblastomas may also be disseminated at the time of diagnosis, although the incidence of dissemination may be somewhat less than that of medulloblastomas, with dissemination at diagnosis being documented in approximately 10% to 20% of patients. […] The optimal treatment of childhood nonmedulloblastoma embryonal tumors remains unclear and under study. […] Studies applying unsupervised clustering of DNA methylation patterns for nonmedulloblastoma embryonal tumors found that approximately one-half of these tumors diagnosed as nonmedulloblastoma embryonal tumors showed molecular profiles characteristic of other known pediatric brain tumors. […] Molecular characterization identified genomically and biologically distinctive subtypes.

• #30 Embryonal brain tumours in children | PPT

  https://www.slideshare.net/slideshow/embryonal-brain-tumours-in-children/75140475

  Medulloblastoma is the most common malignant brain tumor in children that arises in the cerebellum. […] It is currently thought that it arises from Germinative neuroepithelial cells in the external granular layer of cerebellum. […] Approximately 20% of Medulloblastoma present in infants younger than 2 years old; male: female (3:2). […] Medulloblastoma is classified into molecular subgroups – WNT, SHH, Group 3, and Group 4 – which have different characteristics and predict survival outcomes. […] Genetic predisposition (syndromes) Gorlin syndrome (3-5 % MB cases) TURCOT SYNDROME (1 % MB cases) Li-fraumeni syndrome. […] Abnormalities in SHH pathway are present in 30% of MB cases. […] WNT tumors are seen in children and adults. […] TP 53 mutations are present in 10-20% of WNT and SHH MB and very rarely in the other subtypes. […] Medulloblastoma has a better prognosis in children than adults, long-term survival remains a challenge, especially for high-risk or relapsed patients.

• #31

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

  The biological heterogeneity of medulloblastoma is reflected in their molecular subgroups. The four recognized molecular subgroups are WNT-activated, SHH-activated, and non-WNT/non-SHH (Group 3 and Group 4). […] Although a large proportion of medulloblastoma are sporadic in origin, there are some familial tumor syndromes that predispose to their development. For example, germline TP53 point mutations, seen in LiFraumeni syndrome, can predispose to SHH medulloblastoma. […] The identification of the molecular subgroups of medulloblastoma may be achieved by various methodologies including methylation profiling and gene expression analysis using nanostring technology. However, these are not feasible methods for day-to-day practice. […] The use of proton therapy has been reported in a case series of 7 patients of ETMR with a median survival of 16 months, compared to the historical control of 10 months from 204 patients obtained through literature review.

• #32 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

  The introduction of increasingly specific tumor groups is an effort to create more internally homogeneous categories, to allow more precise prognostication, and potentially to develop targeted therapies. […] The characteristic chromosome 19 miRNA cluster amplification of the 19q13.42 locus, named C19MC, was first described in 2009. […] C19MC is now considered the genetic hallmark of ETMRs, present in approximately 90% of all ETMRs regardless of their histology. […] ETMRs have few recurrent genetic aberrations, mainly affecting the microRNA (miRNA) pathway and including amplification of C19MC and mutually exclusive biallelic DICER1 mutations. […] No method of prevention is known for rare CNS embryonal tumors. […] The clinical presentation is based on the location of the tumor and encompasses symptoms of raised intracranial pressure. […] The limited case series available describe very poor prognosis with a median survival of 21 months and a propensity for early disease progression or recurrence. […] Optimal treatment strategies remain uncertain for this tumor entity.

• #33 Embryonal Tumors | SpringerLink

  https://link.springer.com/10.1007/978-3-319-52619-5_5-1

  Embryonal tumors of the central nervous system (CNS) are the most common group of malignant brain tumors in childhood. […] The outcome for patients with tumors diagnosed as embryonal CNS tumors is generally poor and is associated with a high mortality and a significant long-term morbidity. […] Particularly in infants, in metastatic medulloblastomas or in any high-risk embryonal CNS tumors, the outcome remains poor even when aggressive therapies are applied. […] Current treatment approaches include surgery, chemotherapy (CTx), and radiotherapy (RT). […] For children younger than 3 years of age, attempts have been made to minimize neurotoxic effects by delaying or even avoiding RT altogether and by applying intensified CTx regimens instead. […] In the future, refining risk stratification by molecular genetics may enable treatment optimization and the development of individualized targeted therapies.

• #34 Central Nervous System (CNS) Embryonal Tumor and Tumors of Uncertain Differentiation Treatment | St. Jude Care & Treatment

  https://www.stjude.org/care-treatment/treatment/childhood-cancer/brain-tumors/central-nervous-system-embryonal-tumor.html

  These tumors are now categorized to include multiple types based on the molecular or genetic changes (mutations) that caused the tumor to develop. […] Because there are different types, molecular testing must occur on the tumor to get the correct diagnosis and determine the best treatment. […] The prognosis for different embryonal tumors varies greatly. It depends on: The specific type and genetic mutations. […] We have a special team that helps understand the makeup of the tumor. This team includes doctors and scientists who study: How the cancer happened. […] What makes cancer cells grow and what new medicines can stop them.

• #35 ETMR Brain Cancer: Advancing Treatment Protocol – solvingkidscancer.org

  https://solvingkidscancer.org/blog/etmr-brain-cancer-advancing-treatment-protocol/

  The exact cause of this pediatric cancer is unknown. Still, research shows that since the discovery of the characteristic chromosome 19 miRNA cluster (C19MC) amplification over a decade ago, the methods for diagnosing this entity have improved and many new insights in the molecular landscape of ETMRs have been acquired. […] This trial is described in the article titled, ETMR -08. International Consensus Protocol For Embryonal Tumor With Multilayer Rosettes, published in Society for Neuro-Oncology, A consensus protocol was developed incorporating maximal safe surgical resection, induction chemotherapy with active pre-clinical agents, intrathecal chemotherapy, radiotherapy, and high-dose chemotherapy. […] At Solving Kids Cancer, we prioritize and fund innovative preclinical research and early phase clinical trials with a strong rationale for potential benefit to children with poor prognosis cancers like embryonal tumors with multilayered rosettes.

• #36 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

  Embryonal brain tumors account for approximately 13% of primary brain tumors of childhood, following gliomas as the second most common CNS tumor type in children up to 14 years of age. […] Brain tumors may be congenital in children younger than 3 years of age and range from benign complex lesions to highly malignant neoplasms. […] Approximately 10% to 15% of all childhood brain tumors will appear in the first 2 years of life, and about half occur in the first 6 months; overall, they are considered rare. […] Embryonal tumors represent 25% of brain tumors in infants younger than 1 year of age. […] Rare embryonal tumors may be congenital and can arise along the neuraxis. […] Due to varied diagnostic practices and scarce clinical data, disease features and determinants of outcomes for these tumors are poorly defined.

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