Materiały źródłowe

• #1 Pineal Region Tumors: Diagnosis and Treatment – NCI

  https://www.cancer.gov/rare-brain-spine-tumor/tumors/pineal-region-tumors

  To get an accurate diagnosis, a piece of tumor tissue will be removed during surgery, if possible. A neuropathologist should then review the tumor tissue. […] Pineoblastoma are malignant (cancerous). This means they are fast-growing and tend to invade nearby tissue. […] Pineoblastomas may extend into surrounding brain structures. […] Pineoblastomas are more common during the first 20 years of life. […] The relative five-year survival rate for pineal region tumors is 75.5 percent. […] The first treatment for pineal region tumors is surgery, if possible. The goal of surgery is to obtain tissue to determine the tumor type and remove as much tumor as possible without causing more symptoms.

• #2 SSA – POMS: DI 23022.273 – Pineoblastoma – Childhood – 08/09/2023

  https://secure.ssa.gov/poms.nsf/%20lnx/0423022273

  Pineoblastoma is an aggressive cancerous (malignant) tumor that grows in a part of the brain known as the pineal gland. It occurs mainly in children. These tumors are primary central nervous system tumors that start in the brain and can spread to the spinal cord and beyond. […] The diagnosis of pineoblastoma is made by: Magnetic resonance imaging (MRI); Computerized tomography (CT) scan; Positron emission tomography (PET) scan; Tissue biopsy; and Cerebrospinal fluid (CSF) testing. […] The physical findings of pineoblastoma depend on where the cancer is growing in the brain. Some general symptoms are: Headaches; Nausea; Vomiting; Difficulty with eye movements (nystagmus); Difficulty with balance; and Difficulty walking. […] Suggested MER for Evaluation: Clinical history and examination that describes the diagnostic features of the impairment; Imaging reports such as CT scan or MRI scan; Biopsy or needle aspiration information found in operative notes, pathology reports, summaries of hospitalization or other medical reports that include details of the surgical and pathological findings.

• #3 Pineoblastoma | The Brain Tumour Charity

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

  A pineoblastoma is a high grade (cancerous grade 4), fast growing tumour of the pineal region at the centre of the brain. While pineoblastomas can affect anyone, they are mostly diagnosed in people under 20 years old. […] Pineoblastoma is a primary brain tumour, meaning that it starts in the brain as opposed to spreading there. It is a high grade brain tumour grade 4 which means it is cancerous. […] After a pineoblastoma is diagnosed through scans and/or a biopsy, your MDT will consider the best treatment option for you. […] Radiotherapy is the gold standard of treatment for pineoblastomas. Depending on factors such as whether cancerous cells have spread to other parts of the brain, your MDT will decide the type of radiotherapy you will have and at which dose. […] Pineoblastomas are rare brain tumours. But, unfortunately, they are difficult to treat in the people who do develop them. Sadly, less than 10% of the children under the age of four with these brain tumours live for five years or more. However, over 60% of people aged over four years live for five years or more.

• #4 Pineoblastoma – Symptoms, Diagnosis, and TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/pineoblastoma/

  Pineoblastomas are rare, aggressive brain tumors originating in the pineal gland, a small almond-shaped structure in the brain’s center. […] Diagnosing a pineoblastoma can require several steps to determine the tumor’s extent and molecular subtype. Your healthcare provider will use a combination of exams, imaging studies, and laboratory tests for the most accurate diagnosis. […] The most common diagnostic tests for pineoblastoma include: Physical and neurological exam: First, your healthcare provider will ask about your symptoms, overall health, and any risk factors you might have. […] Magnetic Resonance Imaging (MRI): An MRI is the primary imaging test to detect and diagnose pineal tumors, including pineoblastomas. […] Computed Tomography (CT): Although an MRI is often the first choice in neuroimaging, a CT scan relies on X-rays to create detailed cross-sectional brain images to help evaluate a tumor’s size and location and look for hydrocephalus, a condition marked by fluid buildup in the brain.

• #5 Pineoblastoma | About the Disease | GARD

  https://rarediseases.info.nih.gov/diseases/9369/pineoblastoma

  Pineoblastoma is a type of cancerous (malignant) tumor that grows in a part of the brain known as the pineal gland. […] Diagnosis is based on the symptoms, clinical exam, and imaging studies. […] In addition, a biopsy is often done to examine a small piece of tumor tissue under the microscope. […] Establishing care with a dedicated primary care provider (PCP) is an important early step in your rare disease journey. A PCP can help improve care and shorten the time to diagnosis by providing referrals to the appropriate specialists. […] If you’ve visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. […] Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location.

• #6 Pineoblastoma Diagnosis | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MD

  https://www.aaroncohen-gadol.com/en/patients/pineoblastoma/types/diagnosis

  Pineoblastoma is a rare and aggressive brain tumor that arises in the pineal gland, a small organ deep within the brain responsible for controlling sleep patterns. Due to its location and the complexity of the brain structures around it, diagnosing pineoblastoma can be challenging. […] Early diagnosis is crucial, as it allows for prompt treatment which can improve the patient’s prognosis and survival rate. This article explores how pineoblastoma is diagnosed, covering key tests and procedures, and highlighting an accurate, timely diagnosis. […] The diagnosis of pineoblastoma often begins when patients experience symptoms that suggest a problem in the brain. Common pineoblastoma symptoms include persistent headaches, nausea, vision changes, sleep disruptions, and balance or coordination issues.

• #7 SSA – POMS: DI 23022.273 – Pineoblastoma – Childhood – 08/09/2023

  https://secure.ssa.gov/poms.nsf/%20lnx/0423022273

  Pineoblastoma is an aggressive cancerous (malignant) tumor that grows in a part of the brain known as the pineal gland. It occurs mainly in children. These tumors are primary central nervous system tumors that start in the brain and can spread to the spinal cord and beyond. […] The diagnosis of pineoblastoma is made by: Magnetic resonance imaging (MRI); Computerized tomography (CT) scan; Positron emission tomography (PET) scan; Tissue biopsy; and Cerebrospinal fluid (CSF) testing. […] The physical findings of pineoblastoma depend on where the cancer is growing in the brain. Some general symptoms are: Headaches; Nausea; Vomiting; Difficulty with eye movements (nystagmus); Difficulty with balance; and Difficulty walking. […] Suggested MER for Evaluation: Clinical history and examination that describes the diagnostic features of the impairment; Imaging reports such as CT scan or MRI scan; Biopsy or needle aspiration information found in operative notes, pathology reports, summaries of hospitalization or other medical reports that include details of the surgical and pathological findings.

• #8 Pineoblastoma – Symptoms, Diagnosis, and TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/pineoblastoma/

  Pineoblastomas are rare, aggressive brain tumors originating in the pineal gland, a small almond-shaped structure in the brain’s center. […] Diagnosing a pineoblastoma can require several steps to determine the tumor’s extent and molecular subtype. Your healthcare provider will use a combination of exams, imaging studies, and laboratory tests for the most accurate diagnosis. […] The most common diagnostic tests for pineoblastoma include: Physical and neurological exam: First, your healthcare provider will ask about your symptoms, overall health, and any risk factors you might have. […] Magnetic Resonance Imaging (MRI): An MRI is the primary imaging test to detect and diagnose pineal tumors, including pineoblastomas. […] Computed Tomography (CT): Although an MRI is often the first choice in neuroimaging, a CT scan relies on X-rays to create detailed cross-sectional brain images to help evaluate a tumor’s size and location and look for hydrocephalus, a condition marked by fluid buildup in the brain.

• #9 Pineal Tumors – Symptoms, Diagnosis, and TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/pineal-tumors/

  Pineal tumor diagnosis often involves a combination of neurological exams, imaging tests, and lab work. […] The following tools are often used in a pineal tumor diagnosis: […] Physical and neurological exam: First, your healthcare provider will ask about your symptoms, overall health, and any risk factors you might have. Next, they’ll complete an examination to assess your neurological function, including your reflexes, coordination, strength, sensation, and eye movements, as certain eye movement issues can point to pineal region abnormalities. […] Magnetic Resonance Imaging (MRI): An MRI is the primary imaging test to detect and diagnose pineal tumors, providing detailed images of your brain to help identify a tumor’s location, size, and characteristics. An MRI with contrast may be used to differentiate the tumor from surrounding tissues and determine whether or not it’s spread.

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

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

  Pineoblastoma was previously conventionally grouped with embryonal tumors. However, it is now categorized by the WHO as a pineal parenchymal tumor. The 2021 WHO classification of these tumors is as follows: Pineocytoma, Pineal parenchymal tumor of intermediate differentiation, Pineoblastoma, Papillary tumor of the pineal region, Desmoplastic myxoid tumor of the pineal region, SMARCB1-altered. […] Given that therapies for pineoblastomas are quite similar to those for embryonal tumors, pineoblastomas are discussed in this summary. […] Pineoblastoma often results in hydrocephalus due to blockage of cerebrospinal fluid at the third ventricular level and other symptoms related to pressure on the back of the brain stem in the tectal region. Symptoms may include a constellation of abnormalities in eye movements (Parinaud syndrome), manifested by pupils that react poorly to light but better to accommodation, loss of upgaze, retraction or convergence nystagmus, and lid retraction. As they grow, these tumors may also cause hemiparesis and ataxia.

• #11 Pineoblastoma – Symptoms, Diagnosis, and TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/pineoblastoma/

  Lumbar puncture: Also known as a spinal tap, a lumbar puncture involves a needle inserted into the lower back to collect cerebrospinal fluid (CSF) to test for the presence of cancerous cells. […] Biopsy: If your imaging results suggest a tumor, a biopsy is needed. […] Genetic tests: In some cases, genetic testing may be done on the biopsy sample to identify specific mutations or molecular markers. […] Due to their complexity and rarity, diagnosing and treating pineoblastomas often requires a multidisciplinary team of neurologists, neurosurgeons, neuro-oncologists, radiation oncologists, and more.

• #12 Pineoblastoma – Symptoms, Diagnosis, and TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/pineoblastoma/

  Lumbar puncture: Also known as a spinal tap, a lumbar puncture involves a needle inserted into the lower back to collect cerebrospinal fluid (CSF) to test for the presence of cancerous cells. […] Biopsy: If your imaging results suggest a tumor, a biopsy is needed. […] Genetic tests: In some cases, genetic testing may be done on the biopsy sample to identify specific mutations or molecular markers. […] Due to their complexity and rarity, diagnosing and treating pineoblastomas often requires a multidisciplinary team of neurologists, neurosurgeons, neuro-oncologists, radiation oncologists, and more.

• #13 Pineoblastoma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/pineoblastoma?lang=us

  Pineoblastomas are tumors that are best thought of as small round blue cell tumors located in the pineal region and thus, they closely resemble (both on imaging and on histology) medulloblastomas and retinoblastomas. They are the most aggressive and highest grade tumor among pineal parenchymal tumors and are considered WHO grade 4 tumors. On imaging, they usually present as large lobulated and enhancing tumors (more than 3 cm), hyperattenuating on CT (highly cellular), with heterogeneous signal intensities on MRI, sometimes with evident necrotic and hemorrhage regions. Restricted diffusion is commonly evident and, in almost all cases, obstructive hydrocephalus is observed at the presentation. Pineoblastomas are typically large and almost always associated with obstructive hydrocephalus, due to compression of the cerebral aqueduct. They are highly malignant tumors prone to CSF seeding, which is present in 15% of patients at the time of diagnosis. Pineoblastomas originate from pinealocytes and/or their precursors. They are the least differentiated pineal cell tumors, with pineocytomas and pineal parenchymal tumor with intermediate differentiation representing better-differentiated tumors along the same spectrum. Pineoblastomas are considered WHO grade 4 tumors. Pineoblastomas tend to be large poorly defined masses, with frequent CSF seeding at presentation. They have a tendency to involve directly adjacent brain structures, which helps distinguish them from other pineal tumors that tend to be better circumscribed. Treatment is usually a combination of surgery, chemotherapy and radiation. Despite treatment, the prognosis has historically been poor, with a 5-year survival as low as 10%. In contrast, in 2021 a 5-year survival of 58-81% has been reported with median overall survival times of 4-8 years. The most important factors predicting a favorable outcome are early detection and treatment with at least chemotherapy, preferably a high dose regimen with stem cell rescue. […] Screening of the whole neural axis is necessary as CSF seeding is seen in 45% of cases.

• #14 LATEST UPDATES ON PINEOBLASTOMA – Dr Prem Pillay

  https://singaporebrain.org/en/brain/latest-updates-pineoblastoma/

  Pineoblastomas tend to be large poorly defined masses, with frequent CSF seeding at presentation. They have a tendency to directly involve adjacent brain structures, which helps distinguish them from other pineal tumours which tend to be better circumscribed. […] The solid component tends to be slightly hyperdense compared to adjacent brain due to high cellularity. This is a characteristic shared by other small round blue cell tumours such as PNET and medulloblastoma. […] Classically, they are described as having peripherally disperse or exploded calcification (Mnemonic: blasted calcification), similar to pineocytomas. In contrast pineal germinomas tend to engulf pineal calcification. […] Pineoblastomas tend to appear as sizable (4 cm) irregular masses often with evidence of invasion into adjacent brain. Typical signal characteristics include: T1: isointense to hypointense to adjacent brain, T2 isointense to adjacent brain areas of cyst formation or necrosis may be present, T1 C+ (Gd): vivid heterogenous enhancement, DWI/ADC restricted diffusion due to dense cellular packing. […] Screening of the whole neural axis is necessary as CSF seeding is seen in 45% of cases.

• #15 Mayo Clinic Health Library – Pineoblastoma | Swiss Medical Network

  https://www.swissmedical.net/en/healtcare-library/con-20310674

  Pineoblastoma diagnosis often involves imaging tests to make pictures of the brain. Other tests might involve removing tissue and fluid for testing. […] Imaging tests can find the location and size of the pineoblastoma. Magnetic resonance imaging, also called MRI, is often used to diagnose brain tumors. Advanced techniques also may be used. These could include perfusion MRI and magnetic resonance spectroscopy. […] A biopsy is a procedure to remove a sample of tissue for testing in a lab. It can be done with a needle before surgery. Or the sample can be removed during surgery. The tissue sample goes to a lab for tests. The results might show the types of cells and how quickly they are growing. […] A lumbar puncture is a procedure to remove a sample of the fluid around the brain and spinal cord. This procedure also is called a spinal tap. To get the fluid, a healthcare professional inserts a needle between two bones in the lower spine. The health professional uses the needle to remove some cerebrospinal fluid from around the spinal cord. The fluid is tested to look for pineoblastoma cells. Cerebrospinal fluid also may be collected during a biopsy to remove tissue from the brain.

• #16 SciELO Brazil – Diffusion-weighted MR images and pineoblastoma: diagnosis and follow-up Diffusion-weighted MR images and pineoblastoma: diagnosis and follow-up

  https://www.scielo.br/j/anp/a/8NZsBDzk8ngBLH8hN49FNkj/?lang=en

  Pineoblastomas are uncommon pineal tumors, which demonstrate rapid growing and poor prognosis. The surgical biopsy defined the diagnosis of pineoblastoma and the therapy was initiated with radiation and chemotherapy. The differential diagnosis of pineal region masses that could show restriction of diffusion is discussed. The MR images demonstrate a lesion hypo- or iso-intense on T1- and hyperintense on T2-weighted images, with heterogeneous enhancement after gadolinium administration. However, there is a considerable overlap of the imaging findings of pineoblastomas and pineocytomas. The diffusion-weighted (DW) MR imaging provides information about the movement of the water molecules along random pathways. In the present case, the pineoblastoma showed restriction of water diffusion at the time of the diagnosis, demonstrating high signal on DW images and low signal on ADC maps. In conclusion, pineoblastoma may show restriction of water diffusion, which might be related to its high cellularity.

• #17 Pineoblastoma | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/pineoblastoma?lang=us

  Pineoblastomas are tumors that are best thought of as small round blue cell tumors located in the pineal region and thus, they closely resemble (both on imaging and on histology) medulloblastomas and retinoblastomas. They are the most aggressive and highest grade tumor among pineal parenchymal tumors and are considered WHO grade 4 tumors. On imaging, they usually present as large lobulated and enhancing tumors (more than 3 cm), hyperattenuating on CT (highly cellular), with heterogeneous signal intensities on MRI, sometimes with evident necrotic and hemorrhage regions. Restricted diffusion is commonly evident and, in almost all cases, obstructive hydrocephalus is observed at the presentation. Pineoblastomas are typically large and almost always associated with obstructive hydrocephalus, due to compression of the cerebral aqueduct. They are highly malignant tumors prone to CSF seeding, which is present in 15% of patients at the time of diagnosis. Pineoblastomas originate from pinealocytes and/or their precursors. They are the least differentiated pineal cell tumors, with pineocytomas and pineal parenchymal tumor with intermediate differentiation representing better-differentiated tumors along the same spectrum. Pineoblastomas are considered WHO grade 4 tumors. Pineoblastomas tend to be large poorly defined masses, with frequent CSF seeding at presentation. They have a tendency to involve directly adjacent brain structures, which helps distinguish them from other pineal tumors that tend to be better circumscribed. Treatment is usually a combination of surgery, chemotherapy and radiation. Despite treatment, the prognosis has historically been poor, with a 5-year survival as low as 10%. In contrast, in 2021 a 5-year survival of 58-81% has been reported with median overall survival times of 4-8 years. The most important factors predicting a favorable outcome are early detection and treatment with at least chemotherapy, preferably a high dose regimen with stem cell rescue. […] Screening of the whole neural axis is necessary as CSF seeding is seen in 45% of cases.

• #18 LATEST UPDATES ON PINEOBLASTOMA – Dr Prem Pillay

  https://singaporebrain.org/en/brain/latest-updates-pineoblastoma/

  Pineoblastomas tend to be large poorly defined masses, with frequent CSF seeding at presentation. They have a tendency to directly involve adjacent brain structures, which helps distinguish them from other pineal tumours which tend to be better circumscribed. […] The solid component tends to be slightly hyperdense compared to adjacent brain due to high cellularity. This is a characteristic shared by other small round blue cell tumours such as PNET and medulloblastoma. […] Classically, they are described as having peripherally disperse or exploded calcification (Mnemonic: blasted calcification), similar to pineocytomas. In contrast pineal germinomas tend to engulf pineal calcification. […] Pineoblastomas tend to appear as sizable (4 cm) irregular masses often with evidence of invasion into adjacent brain. Typical signal characteristics include: T1: isointense to hypointense to adjacent brain, T2 isointense to adjacent brain areas of cyst formation or necrosis may be present, T1 C+ (Gd): vivid heterogenous enhancement, DWI/ADC restricted diffusion due to dense cellular packing. […] Screening of the whole neural axis is necessary as CSF seeding is seen in 45% of cases.

• #19 Pineoblastoma – Symptoms, Diagnosis, and TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/pineoblastoma/

  Pineoblastomas are rare, aggressive brain tumors originating in the pineal gland, a small almond-shaped structure in the brain’s center. […] Diagnosing a pineoblastoma can require several steps to determine the tumor’s extent and molecular subtype. Your healthcare provider will use a combination of exams, imaging studies, and laboratory tests for the most accurate diagnosis. […] The most common diagnostic tests for pineoblastoma include: Physical and neurological exam: First, your healthcare provider will ask about your symptoms, overall health, and any risk factors you might have. […] Magnetic Resonance Imaging (MRI): An MRI is the primary imaging test to detect and diagnose pineal tumors, including pineoblastomas. […] Computed Tomography (CT): Although an MRI is often the first choice in neuroimaging, a CT scan relies on X-rays to create detailed cross-sectional brain images to help evaluate a tumor’s size and location and look for hydrocephalus, a condition marked by fluid buildup in the brain.

• #20 Pineoblastoma – Wikipedia

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

  Pineoblastoma is a malignant tumor of the pineal gland. A pineoblastoma is a supratentorial midline primitive neuroectodermal tumor. Pineoblastoma can present at any age, but is most common in young children. They account for 0.001% of all primary CNS neoplasms. […] Several imaging methods can be used to diagnose pineoblastoma. Initially, urgent CTs are recommended, followed by MR imaging. CT will show large, multilobulated masses with heterogenous contrast enhancement and peripheral calcification of the pineal gland. On MRI, pineoblastomas again appear as masses with heterogenous enhancement. They often appear hypo- to isointense on T1 and slightly hyperintense on T2-weighted images. Some areas of necrosis or hemorrhage may be seen as well. PET-CT has also been used in diagnosis, and shows increased uptake of fludeoxyglucose with pineoblastomas compared to other pineal masses.

• #21 Pineoblastoma – Symptoms, Diagnosis, and TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/pineoblastoma/

  Pineoblastomas are rare, aggressive brain tumors originating in the pineal gland, a small almond-shaped structure in the brain’s center. […] Diagnosing a pineoblastoma can require several steps to determine the tumor’s extent and molecular subtype. Your healthcare provider will use a combination of exams, imaging studies, and laboratory tests for the most accurate diagnosis. […] The most common diagnostic tests for pineoblastoma include: Physical and neurological exam: First, your healthcare provider will ask about your symptoms, overall health, and any risk factors you might have. […] Magnetic Resonance Imaging (MRI): An MRI is the primary imaging test to detect and diagnose pineal tumors, including pineoblastomas. […] Computed Tomography (CT): Although an MRI is often the first choice in neuroimaging, a CT scan relies on X-rays to create detailed cross-sectional brain images to help evaluate a tumor’s size and location and look for hydrocephalus, a condition marked by fluid buildup in the brain.

• #22 Pineoblastoma – Wikipedia

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

  Pineoblastoma is a malignant tumor of the pineal gland. A pineoblastoma is a supratentorial midline primitive neuroectodermal tumor. Pineoblastoma can present at any age, but is most common in young children. They account for 0.001% of all primary CNS neoplasms. […] Several imaging methods can be used to diagnose pineoblastoma. Initially, urgent CTs are recommended, followed by MR imaging. CT will show large, multilobulated masses with heterogenous contrast enhancement and peripheral calcification of the pineal gland. On MRI, pineoblastomas again appear as masses with heterogenous enhancement. They often appear hypo- to isointense on T1 and slightly hyperintense on T2-weighted images. Some areas of necrosis or hemorrhage may be seen as well. PET-CT has also been used in diagnosis, and shows increased uptake of fludeoxyglucose with pineoblastomas compared to other pineal masses.

• #23 SSA – POMS: DI 23022.273 – Pineoblastoma – Childhood – 08/09/2023

  https://secure.ssa.gov/poms.nsf/%20lnx/0423022273

  Pineoblastoma is an aggressive cancerous (malignant) tumor that grows in a part of the brain known as the pineal gland. It occurs mainly in children. These tumors are primary central nervous system tumors that start in the brain and can spread to the spinal cord and beyond. […] The diagnosis of pineoblastoma is made by: Magnetic resonance imaging (MRI); Computerized tomography (CT) scan; Positron emission tomography (PET) scan; Tissue biopsy; and Cerebrospinal fluid (CSF) testing. […] The physical findings of pineoblastoma depend on where the cancer is growing in the brain. Some general symptoms are: Headaches; Nausea; Vomiting; Difficulty with eye movements (nystagmus); Difficulty with balance; and Difficulty walking. […] Suggested MER for Evaluation: Clinical history and examination that describes the diagnostic features of the impairment; Imaging reports such as CT scan or MRI scan; Biopsy or needle aspiration information found in operative notes, pathology reports, summaries of hospitalization or other medical reports that include details of the surgical and pathological findings.

• #24 Pineoblastoma – Symptoms, Diagnosis, and TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/pineoblastoma/

  Lumbar puncture: Also known as a spinal tap, a lumbar puncture involves a needle inserted into the lower back to collect cerebrospinal fluid (CSF) to test for the presence of cancerous cells. […] Biopsy: If your imaging results suggest a tumor, a biopsy is needed. […] Genetic tests: In some cases, genetic testing may be done on the biopsy sample to identify specific mutations or molecular markers. […] Due to their complexity and rarity, diagnosing and treating pineoblastomas often requires a multidisciplinary team of neurologists, neurosurgeons, neuro-oncologists, radiation oncologists, and more.

• #25 Mayo Clinic Health Library – Pineoblastoma | Swiss Medical Network

  https://www.swissmedical.net/en/healtcare-library/con-20310674

  Pineoblastoma diagnosis often involves imaging tests to make pictures of the brain. Other tests might involve removing tissue and fluid for testing. […] Imaging tests can find the location and size of the pineoblastoma. Magnetic resonance imaging, also called MRI, is often used to diagnose brain tumors. Advanced techniques also may be used. These could include perfusion MRI and magnetic resonance spectroscopy. […] A biopsy is a procedure to remove a sample of tissue for testing in a lab. It can be done with a needle before surgery. Or the sample can be removed during surgery. The tissue sample goes to a lab for tests. The results might show the types of cells and how quickly they are growing. […] A lumbar puncture is a procedure to remove a sample of the fluid around the brain and spinal cord. This procedure also is called a spinal tap. To get the fluid, a healthcare professional inserts a needle between two bones in the lower spine. The health professional uses the needle to remove some cerebrospinal fluid from around the spinal cord. The fluid is tested to look for pineoblastoma cells. Cerebrospinal fluid also may be collected during a biopsy to remove tissue from the brain.

• #26 Pineoblastoma Diagnosis | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MD

  https://www.aaroncohen-gadol.com/en/patients/pineoblastoma/types/diagnosis

  To check for this, doctors may perform a lumbar puncture (spinal tap) to collect and analyze cerebrospinal fluid (CSF). This test can detect tumor cells or other signs that the cancer has spread (metastasized), which is critical for staging the disease and determining the most effective treatment plan. […] Accurate staging is essential for developing an effective treatment plan for pineoblastoma. Staging refers to assessing how far the cancer has spread and can significantly influence pineoblastoma prognosis and life expectancy. […] Early and accurate diagnosis can improve the chances of better outcomes and may influence the overall pineoblastoma survival rate. If you or a loved one is experiencing persistent symptoms that may suggest a brain tumor, seeking prompt medical advice is important. Early diagnosis can make a meaningful difference in treatment success and quality of life for those affected by pineoblastoma.

• #27 Pineoblastoma – Augusta HealthSearchClose SearchSearch IconSearch IconClose Search IconMobile Menu IconMobile Menu Close IconInstagramFacebookTwitterYoutube

  https://www.augustahealth.com/disease/pineoblastoma/

  Pineoblastoma is a rare, aggressive type of cancer that begins in the cells of the brain’s pineal gland. […] Tests and procedures used to diagnose pineoblastoma include: […] Imaging tests can help your doctor determine the location and size of your child’s brain tumor. Magnetic resonance imaging (MRI) is often used to diagnose brain tumors, and advanced techniques, such as perfusion MRI and magnetic resonance spectroscopy, may also be used. […] A biopsy can be done with a needle before surgery or during surgery to remove the pineoblastoma. The sample of suspicious tissue is analyzed in a laboratory to determine the types of cells and their level of aggressiveness. […] Removing cerebrospinal fluid for testing (lumbar puncture). Also called a spinal tap, this procedure involves inserting a needle between two bones in the lower spine to draw out cerebrospinal fluid from around the spinal cord. The fluid is tested to look for tumor cells or other abnormalities.

• #28 Pineoblastoma – Wikipedia

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

  Diagnosis also requires CSF sampling via lumbar puncture to assess for cytology and tumor markers. […] Biopsy is required for diagnosis. Pineoblastomas appear as high grade, highly cellular, small blue cells histologically. Features of aggressive malignancies can be seen, like high nucleus-to-cytoplasm ratio, poorly differentiated cells, high mitotic activity, and necrosis. […] Immunohistochemistry staining will reveal neuronal, glial, and photoreceptor marker positivity. This includes synaptophysin, neurofilament protein, and CRX, a specific pineal or retinal marker, positive staining.

• #29 Pineal Tumors – Symptoms, Diagnosis, and TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/pineal-tumors/

  Blood tests: Some pineal tumors—particularly germ cell tumors—release high markers of Alpha-fetoprotein (AFP) or Beta-human chorionic gonadotropin (hCG) in the blood or CSF that help diagnose certain pineal tumors. […] Biopsy: If your imaging results suggest a tumor, a biopsy is needed. During a biopsy, a small sample is removed from the tumor and sent to a pathology laboratory for analysis. There, pathologists examine the tissue under a microscope to determine the type of cells present and other important characteristics that guide treatment decisions. For tumors in the brain, a biopsy is typically done surgically or through stereotactic biopsy.

• #30 Pineal Tumors Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/249945-workup

  The workup for tumors in the pineal region requires high-resolution magnetic resonance imaging (MRI) of the brain and spine with and without contrast, and serum/cerebrospinal fluid (CSF) markers. Tissue biopsy may also be required. […] MRI is crucial for assessing tumor size, vascularity, associated anatomic relationships, and degree of hydrocephalus if present. Pineal tumors typically displace superior vessels of the deep venous system, and consequently, identifying venous structures is especially important. […] CSF should be obtained, if lumbar puncture is considered safe for the patient, and examined cytologically. If lumbar puncture is deemed unsafe, CSF can be collected at the time of surgery. CSF and serum should be examined for markers, including alpha-fetoprotein (AFP) and beta human chorionic gonadotropin (beta-hCG). Significant increases in either of these markers can be pathognomonic for GCTs and eliminate the need for tissue diagnosis and surgery.

• #31 Pineal Tumors Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/249945-workup

  In the absence of those markers, radiographic, CSF, and serum studies may provide some insight into tumor type, but these studies should not replace tissue diagnosis. […] Tumor markers are most helpful in the workup of patients with germ cell tumors (GCTs). Because GCTs retain molecular characteristics of their primordial lineage, increased levels of AFP and beta-hCG are pathognomonic for certain GCTs. […] The presence of AFP suggests features of yolk sac tissue. Yolk sac tumors characteristically have considerably high levels of AFP, while embryonal cell carcinomas as well as immature teratomas may present with elevated, but lower, levels of AFP. Meanwhile, beta-hCG suggests the presence of trophoblastic tissue. […] Imaging studies are necessary for evaluation of pineal region lesions. Tumor characteristics such as size, vascularity, and homogeneity can be assessed, as can the anatomic relationship with surrounding structures.

• #32 Pineoblastoma – Symptoms, Diagnosis, and TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/pineoblastoma/

  Lumbar puncture: Also known as a spinal tap, a lumbar puncture involves a needle inserted into the lower back to collect cerebrospinal fluid (CSF) to test for the presence of cancerous cells. […] Biopsy: If your imaging results suggest a tumor, a biopsy is needed. […] Genetic tests: In some cases, genetic testing may be done on the biopsy sample to identify specific mutations or molecular markers. […] Due to their complexity and rarity, diagnosing and treating pineoblastomas often requires a multidisciplinary team of neurologists, neurosurgeons, neuro-oncologists, radiation oncologists, and more.

• #33 Pineoblastoma Diagnosis | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MD

  https://www.aaroncohen-gadol.com/en/patients/pineoblastoma/types/diagnosis

  If a brain tumor is suspected, the doctor may recommend additional diagnostic tests to confirm its presence. Additional information regarding its size, location, and impact on normal function will be collected to guide individual treatment plans. […] Imaging studies are essential for diagnosing brain tumors like pineoblastomas. These tests provide doctors with detailed images of the brain and determine whether there is a tumor present. […] MRI is the most common and preferred method for diagnosing pineoblastoma. It uses magnetic fields and radio waves to create highly detailed images of the brain. It helps identify the tumor’s size, location, and whether it has spread to other parts of the brain or spinal cord. This is necessary for planning treatment. […] While imaging can strongly suggest the presence of a pineoblastoma, a definitive diagnosis requires a biopsy. During a biopsy, a small sample of the tumor tissue is removed and examined under a microscope to confirm the diagnosis and assess its characteristics, including its aggressiveness.

• #34 Mayo Clinic Health Library – Pineoblastoma | Swiss Medical Network

  https://www.swissmedical.net/en/healtcare-library/con-20310674

  Pineoblastoma diagnosis often involves imaging tests to make pictures of the brain. Other tests might involve removing tissue and fluid for testing. […] Imaging tests can find the location and size of the pineoblastoma. Magnetic resonance imaging, also called MRI, is often used to diagnose brain tumors. Advanced techniques also may be used. These could include perfusion MRI and magnetic resonance spectroscopy. […] A biopsy is a procedure to remove a sample of tissue for testing in a lab. It can be done with a needle before surgery. Or the sample can be removed during surgery. The tissue sample goes to a lab for tests. The results might show the types of cells and how quickly they are growing. […] A lumbar puncture is a procedure to remove a sample of the fluid around the brain and spinal cord. This procedure also is called a spinal tap. To get the fluid, a healthcare professional inserts a needle between two bones in the lower spine. The health professional uses the needle to remove some cerebrospinal fluid from around the spinal cord. The fluid is tested to look for pineoblastoma cells. Cerebrospinal fluid also may be collected during a biopsy to remove tissue from the brain.

• #35 Pineoblastoma – Wikipedia

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

  Diagnosis also requires CSF sampling via lumbar puncture to assess for cytology and tumor markers. […] Biopsy is required for diagnosis. Pineoblastomas appear as high grade, highly cellular, small blue cells histologically. Features of aggressive malignancies can be seen, like high nucleus-to-cytoplasm ratio, poorly differentiated cells, high mitotic activity, and necrosis. […] Immunohistochemistry staining will reveal neuronal, glial, and photoreceptor marker positivity. This includes synaptophysin, neurofilament protein, and CRX, a specific pineal or retinal marker, positive staining.

• #36 Final Diagnosis — Case 330

  https://path.upmc.edu/cases/case330/dx.html

  The differential diagnoses of a pineal region tumor with this cytology include pineoblastoma, some germinomas and metastatic small cell carcinoma. […] Pineoblastoma may rarely manifest in late adulthood. […] Like lymphomas, pineoblastomas are composed of poorly differentiated and discohesive cells having scant cytoplasm and pleomorphic nuclei. […] However, pineoblastomas usually display some secondary architecture, including rosette formation and aligning of their slightly elongated nuclei. […] Unlike lymphoma, they may also show nuclear molding. […] Most histologic features of pineoblastomas are shared with metastatic small cell carcinomas, although the former may show some tendency to differentiate into neurons or glia.

• #37 Pineoblastoma – Wikipedia

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

  Diagnosis also requires CSF sampling via lumbar puncture to assess for cytology and tumor markers. […] Biopsy is required for diagnosis. Pineoblastomas appear as high grade, highly cellular, small blue cells histologically. Features of aggressive malignancies can be seen, like high nucleus-to-cytoplasm ratio, poorly differentiated cells, high mitotic activity, and necrosis. […] Immunohistochemistry staining will reveal neuronal, glial, and photoreceptor marker positivity. This includes synaptophysin, neurofilament protein, and CRX, a specific pineal or retinal marker, positive staining.

• #38 Complete regression of adult pineoblastoma following radiotherapy: A case report and review of the literature

  https://www.spandidos-publications.com/10.3892/ol.2015.3574

  Adult pineoblastomas (PBs) are rare central nervous system tumors. […] The current report describes a case of PB in a 46-year-old male, who presented with obstructive hydrocephalus due to a large pineal region mass. […] The radiographic and histopathological features of PB are also reviewed, and the various treatment options reported in the literature are discussed. […] The current report describes a case of PB occurring in a 46-year-old male who presented with obstructive hydrocephalus due to a large pineal region mass. […] The majority of the tumor cells demonstrated immunoreactivity for synaptophysin and chromogranin A. […] The pathological diagnosis of PB primarily depends upon the location and morphology of the lesion. […] The appropriate treatment strategies for PB have not been determined as the incidence rate of PB is extremely low, particularly in adults, and only a few described cases with limited clinical follow-up and outcome studies are available.

• #39 Pineoblastoma – Symptoms, Diagnosis, and TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/pineoblastoma/

  Lumbar puncture: Also known as a spinal tap, a lumbar puncture involves a needle inserted into the lower back to collect cerebrospinal fluid (CSF) to test for the presence of cancerous cells. […] Biopsy: If your imaging results suggest a tumor, a biopsy is needed. […] Genetic tests: In some cases, genetic testing may be done on the biopsy sample to identify specific mutations or molecular markers. […] Due to their complexity and rarity, diagnosing and treating pineoblastomas often requires a multidisciplinary team of neurologists, neurosurgeons, neuro-oncologists, radiation oncologists, and more.

• #40 Research Advances the Genetic Understanding of Pineoblastoma, a Rare Brain Cancer | Memorial Sloan Kettering Cancer Center

  https://www.mskcc.org/news/new-research-advances-genetic-understanding-pineoblastoma-rare-brain

  Experts say the findings about this type of tumor will lead to more accurate diagnoses and, potentially, to better treatments. […] Now this research in the lab is starting to bear fruit and help us better diagnose and treat patients, especially those with rare tumors like pineoblastoma. […] The study reports that pineoblastomas in adults and children are distinct from each other something that was not previously known. […] We were surprised to find these different molecular fingerprints between the adult and pediatric forms of the disease, Dr. Karajannis says. […] Further studies will be needed to assess the role of ARRB2 and the other genes we found to be recurrently mutated in pineoblastoma, Dr. Karajannis concludes.

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

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

  Pineoblastoma is histologically similar to medulloblastoma and shares histological features with embryonal tumors. It is classified as a subgroup of pineal parenchymal tumors. […] Pineoblastoma can be classified into four distinctive subtypes with unique clinical and molecular characteristics: The microRNA (miRNA) processing-altered 1 (PB-miRNA1) and miRNA processing-altered 2 (PB-miRNA2) subtypes are characterized by somatic or germline variants involving microRNA biogenesis genes (DICER1, DROSHA, and DGCR8). They are distinguished from each other by their DNA methylation profiles. The PB-MYC/FOXR2 subtype shows MYC activation and FOXR2 overexpression. The PB-RB1 subtype has RB1 alterations, and a minority of cases have a clinical diagnosis of trilateral retinoblastoma. […] The usual postsurgical treatment for patients with pineoblastoma begins with radiation therapy, although some trials have used preradiation chemotherapy. The total dose of radiation therapy to the tumor site is 54 Gy to 55.8 Gy using conventional fractionation. Craniospinal irradiation with doses of 23.4 Gy to 36 Gy are also recommended because of the propensity of this tumor to disseminate throughout the subarachnoid space.

• #42 Pineal Tumors

  https://atlasgeneticsoncology.org/solid-tumor/209292

  Tumors of the pineal region are a heterogenous group of rare neoplasms that are more common in children than in adults. […] The median age at diagnosis of pineoblastoma is approximately 6 years (0-42 years). This can be further delineated by recognizing that pineoblastoma with DICER-related tumors arise in older children (Median: 8-12 years) while RB1- and MYC- altered pineoblastoma are more prevalent in younger children and infants (Median: 1-2 years). […] DICER1, DROSHA, or DGCR8 mutations or copy number alterations have been described in pineoblastoma. […] DNA methylation analysis segregates pineoblastoma into four subtypes with distinct genetic and clinical features: Pineoblastoma, miRNA processing-altered_1 and 2 characterized by copy-number alterations and/or mutually exclusive mutations targeting DICER1, DROSHA, or DGCR8, Pineoblastoma, RB1-altered, and Pineoblastoma, MYC/FOXR2-activated.

• #43 DNA methylation profiling from cerebrospinal fluid as a diagnostic tool for pineoblastoma | Acta Neuropathologica Communications | Full Text

  https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-025-01960-x

  Pineoblastoma is a rare and aggressive malignancy that often affects pediatric populations. Accurate diagnosis is challenging due to histological overlap with other central nervous system tumors and limited molecular data. DNA methylation profiling and analysis of circulating tumor DNA (derived from both cell dissemination as well as cell-free cfDNA) in cerebrospinal fluid (CSF) are emerging tools for precise tumor classification, in the field of pediatric central nervous system tumors. […] The diagnosis was later confirmed through tissue-based DNA methylation analysis of a secondary lesion, demonstrating that the epigenetic signature faithfully reflected tumor features. This case report highlights the potential of CSF-based DNA methylation profiling as a minimally invasive yet accurate diagnostic tool for pediatric CNS tumors.

• #44 DNA methylation profiling from cerebrospinal fluid as a diagnostic tool for pineoblastoma | Acta Neuropathologica Communications | Full Text

  https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-025-01960-x

  The relevance of DNA methylation profiling in improving differential diagnosis is quite clear in the context of primitive neuroectodermal tumors of the central nervous system (PNET). […] DNA Methylation profiling of PB has allowed for the definition of the molecular identity of these tumors helping to discriminate them from other embryonal CNS tumors and to better clarify intertumoral heterogeneity among PB. […] DNA methylation analysis of CSF played a pivotal role in achieving an accurate diagnosis of pineoblastoma, effectively overcoming the limitations posed by the absence of FFPE tissue. […] Using a minimal amount of input DNA, methylation profiling classified the tumor within the methylation class family of pineoblastoma with an optimal calibrated score. This finding was subsequently validated through DNA methylation analysis of tumor tissue obtained during a second surgical resection, reinforcing the robustness of the CSF-based approach. […] This study underscores the potential of CSF-based DNA methylation profiling as a valuable diagnostic tool, particularly in cases where tissue samples are unavailable, while highlighting the need to account for the specific nuances of liquid biopsy in the diagnostic process.

• #45 Final Diagnosis — Case 212

  https://path.upmc.edu/cases/case212/dx.html

  FINAL DIAGNOSIS: BRAIN, PINEAL REGION, STEREOTACTIC BIOPSIES: PINEOBLASTOMA […] Pineoblastomas may be somewhat difficult to diagnose histologically. The differential diagnosis includes pineocytoma, mixed pineoblastoma/pineocytoma, glial neoplasms such as glioblastoma multiforme, and primary central nervous system germ cell tumors. […] Therapeutic management of adults with pineoblastomas is controversial since such few cases exist in the literature. A combination of radiotherapy and chemotherapy is usually attempted. Prognosis is dismal regardless of therapy regimen.

• #46 Adult Pineoblastoma: A Rare Case Report

  https://www.neurologyletters.com/article_200592.html

  Adult Pineoblastoma a rare tumor and needs to be considered in the differential diagnosis of pineal region tumors in adults. […] The present case represents a total workup on diagnosing pineoblastoma including radiology, histopathology, and immunohistochemistry. […] Because of the considerable overlap in imaging appearance with other pineal region tumors, histopathology with immunohistochemistry is required along with radiology to confirm diagnosis. […] Histopathology of Pineoblastoma is not distinctive, as they are composed of sheets of poorly differentiated embryonal neoplastic cells. Confirming the location of the tumor in the pineal region is thus first critical step in ruling out other non-pineal embryonal tumors, especially medulloblastomas. […] According to WHO Classification of CNS Tumors 2021, essential diagnostic criteria for pineoblastoma include 1) histopathological features of an embryonal tumor 2) High proliferative /mitotic activity AND 3) Pineal region location.

• #47 Distinguishing between Germinomas and Pineal Cell Tumors on MR Imaging | American Journal of Neuroradiology

  http://www.ajnr.org/content/33/3/550

  Germinomas showed higher ADC values than the pineal cell tumors (P = .02), and the patients were younger. […] A threshold ADC value of 1250.00 106 mm2/s encircling the entire tumor was useful in distinguishing between germinomas and pineal cell origin tumors, with 89.5% accuracy. […] Otherwise, there were no definitive imaging characteristics that distinguished pineal cell from germinoma pineal region tumors. The T1WI and T2WI intensity values, degree of heterogeneity, and enhancement did not differentiate the 2.

• #48 Pineoblastoma Diagnosis | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MD

  https://www.aaroncohen-gadol.com/en/patients/pineoblastoma/types/diagnosis

  To check for this, doctors may perform a lumbar puncture (spinal tap) to collect and analyze cerebrospinal fluid (CSF). This test can detect tumor cells or other signs that the cancer has spread (metastasized), which is critical for staging the disease and determining the most effective treatment plan. […] Accurate staging is essential for developing an effective treatment plan for pineoblastoma. Staging refers to assessing how far the cancer has spread and can significantly influence pineoblastoma prognosis and life expectancy. […] Early and accurate diagnosis can improve the chances of better outcomes and may influence the overall pineoblastoma survival rate. If you or a loved one is experiencing persistent symptoms that may suggest a brain tumor, seeking prompt medical advice is important. Early diagnosis can make a meaningful difference in treatment success and quality of life for those affected by pineoblastoma.

• #49 Pineoblastomas | EBSCO Research Starters

  https://www.ebsco.com/research-starters/health-and-medicine/pineoblastomas

  For pineoblastoma, the extent of the cancer is usually described as risk groups instead of stages. The tumor is called average risk when the child is older than age three, most or all of the tumor was removed by surgery, and the cancer has not spread beyond the pineal gland. It is called poor risk when the child is younger than age three, the tumor was near the center of the brain, some of the tumor was not removed by surgery, or the cancer has spread to other parts of the brain or body, including the spinal cord.

• #50 Pineoblastoma Diagnosis | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MD

  https://www.aaroncohen-gadol.com/en/patients/pineoblastoma/types/diagnosis

  To check for this, doctors may perform a lumbar puncture (spinal tap) to collect and analyze cerebrospinal fluid (CSF). This test can detect tumor cells or other signs that the cancer has spread (metastasized), which is critical for staging the disease and determining the most effective treatment plan. […] Accurate staging is essential for developing an effective treatment plan for pineoblastoma. Staging refers to assessing how far the cancer has spread and can significantly influence pineoblastoma prognosis and life expectancy. […] Early and accurate diagnosis can improve the chances of better outcomes and may influence the overall pineoblastoma survival rate. If you or a loved one is experiencing persistent symptoms that may suggest a brain tumor, seeking prompt medical advice is important. Early diagnosis can make a meaningful difference in treatment success and quality of life for those affected by pineoblastoma.

• #51 Pineoblastoma – Symptoms, Diagnosis, and TreatmentSecond Opinion IconGroup 9Second Opinion IconGroup 9Group 49

  https://www.barrowneuro.org/condition/pineoblastoma/

  Lumbar puncture: Also known as a spinal tap, a lumbar puncture involves a needle inserted into the lower back to collect cerebrospinal fluid (CSF) to test for the presence of cancerous cells. […] Biopsy: If your imaging results suggest a tumor, a biopsy is needed. […] Genetic tests: In some cases, genetic testing may be done on the biopsy sample to identify specific mutations or molecular markers. […] Due to their complexity and rarity, diagnosing and treating pineoblastomas often requires a multidisciplinary team of neurologists, neurosurgeons, neuro-oncologists, radiation oncologists, and more.

• #52 Pineoblastoma | About the Disease | GARD

  https://rarediseases.info.nih.gov/diseases/9369/pineoblastoma

  Pineoblastoma is a type of cancerous (malignant) tumor that grows in a part of the brain known as the pineal gland. […] Diagnosis is based on the symptoms, clinical exam, and imaging studies. […] In addition, a biopsy is often done to examine a small piece of tumor tissue under the microscope. […] Establishing care with a dedicated primary care provider (PCP) is an important early step in your rare disease journey. A PCP can help improve care and shorten the time to diagnosis by providing referrals to the appropriate specialists. […] If you’ve visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. […] Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location.

• #53 Pineoblastoma | About the Disease | GARD

  https://rarediseases.info.nih.gov/diseases/9369/pineoblastoma

  This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. […] If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. […] Rare disease experts may work at large research or teaching hospitals.

• #54 Pineoblastoma – Neurosurgery | UCLA Health

  https://www.uclahealth.org/medical-services/neurosurgery/conditions-treated/pineoblastoma

  Pineoblastoma is one of several different types of tumors that arise in the area of the pineal gland, requiring different therapies. The exact diagnosis is critical for choosing the correct therapy. […] A magnetic resonance imaging (MRI) of the brain is the most important imaging study. It will show the location, size and shape of the tumor. […] In many cases, a biopsy is required to determine the tumor type. More than a dozen different types of tumor occur in this region. […] Some tumors that occur in the pineal region have high levels of certain chemicals (Beta-HCG, AFP, and CEA), which can be detected in the cerebrospinal fluid and/or blood. If detected, a surgical biopsy may not be necessary. […] The surgical removal of pineal region tumors ranks among the most difficult neurosurgical operations. Patients typically are referred to major university medical centers, like UCLA, where certain neurosurgeons have specific expertise in this type of surgery. […] More than 70 percent of tumors are highly sensitive to radiation therapy.

• #55 Pineoblastoma – Brief information

  https://www.gpoh.de/kinderkrebsinfo/content/diseases/brain_tumours/pohpatinfomedullo120080109/literatur/index_eng.html

  If the paediatrician thinks that the young patients history (anamnesis) and physical examination are suspicious of a tumour of the central nervous system (CNS), the child should immediately be referred to a hospital with a childhood cancer program (paediatric oncology unit), where further diagnostics can be initiated and performed by childhood cancer professionals. Very close collaboration between various specialists (such as paediatric oncologists, paediatric neurosurgeons, paediatric radiologists, to name a few) is required, both to find out, whether the patient really suffers from a malignant CNS tumour and, if so, to determine the tumour type and the extension of the disease. Knowing these details is absolutely essential for optimal treatment and prognosis. […] The initial diagnostic procedures for a young patient presenting with a suspected CNS tumour at a childhood cancer centre include another assessment of the patients history, a thorough physical/neurological exam and imaging diagnostics, such as magnetic resonance imaging (MRI) or (less often) computed tomography (CT). These tests help find out exactly whether the patient has a tumour of the central nervous system. Also, localisation and extent of the tumor, its demarcation regarding adjacent tissue as well as a potential hydrocephalus can be diagnosed by these imaging techniques very well.

• #56 Pineoblastoma Diagnosis | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MD

  https://www.aaroncohen-gadol.com/en/patients/pineoblastoma/types/diagnosis

  To check for this, doctors may perform a lumbar puncture (spinal tap) to collect and analyze cerebrospinal fluid (CSF). This test can detect tumor cells or other signs that the cancer has spread (metastasized), which is critical for staging the disease and determining the most effective treatment plan. […] Accurate staging is essential for developing an effective treatment plan for pineoblastoma. Staging refers to assessing how far the cancer has spread and can significantly influence pineoblastoma prognosis and life expectancy. […] Early and accurate diagnosis can improve the chances of better outcomes and may influence the overall pineoblastoma survival rate. If you or a loved one is experiencing persistent symptoms that may suggest a brain tumor, seeking prompt medical advice is important. Early diagnosis can make a meaningful difference in treatment success and quality of life for those affected by pineoblastoma.

• #57 Pineoblastoma Overview | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MD

  https://www.aaroncohen-gadol.com/en/patients/pineoblastoma/types/overview

  Pineoblastoma is a rare and aggressive brain tumor that arises from the pineal gland, a small gland located deep within the brain. […] Because of its location and aggressive nature, early detection and treatment are critical. […] The process of diagnosing pineoblastoma typically begins with a neurological exam if patients exhibit symptoms consistent with a brain tumor. Early and accurate diagnosis is essential for guiding effective treatment plans and improving prognosis. […] The diagnostic process involves several steps, though specific approaches may vary. […] MRI is the preferred method of imaging for diagnosing pineoblastoma, providing detailed images that help determine the size and location of the tumor. […] A definitive diagnosis often requires a biopsy, where a small tissue sample is taken from the tumor and examined under a microscope.

• #58 Pineoblastoma Diagnosis | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MD

  https://www.aaroncohen-gadol.com/en/patients/pineoblastoma/types/diagnosis

  Pineoblastoma is a rare and aggressive brain tumor that arises in the pineal gland, a small organ deep within the brain responsible for controlling sleep patterns. Due to its location and the complexity of the brain structures around it, diagnosing pineoblastoma can be challenging. […] Early diagnosis is crucial, as it allows for prompt treatment which can improve the patient’s prognosis and survival rate. This article explores how pineoblastoma is diagnosed, covering key tests and procedures, and highlighting an accurate, timely diagnosis. […] The diagnosis of pineoblastoma often begins when patients experience symptoms that suggest a problem in the brain. Common pineoblastoma symptoms include persistent headaches, nausea, vision changes, sleep disruptions, and balance or coordination issues.

• #59 Diagnosis and Treatment of Pineal Region Tumors in Adults: A EURACAN Overview

  https://www.mdpi.com/2072-6694/14/15/3646

  The use of systemic treatments mainly depends on histology and prognostic factors such as residual disease and metastases. […] For pinealoblastoma patients, chemotherapy protocols are based on various alkylating or platinum-based agents, vincristine, etoposide, cyclophosphamide and are used in association with radiotherapy. […] Diagnosis, especially in small biopsies, is challenging, and it may be difficult to distinguish PBs from other malignant tumors occurring in this region, including GCTs, ATRTs, high-grade gliomas, and WHO grade 3 PPTIDs. […] The majority of PBs occur in children, whereas PCs and PPTIDs are more common in young adults. […] The DMT SMARCB1-mutant of the pineal region is a newly recognized rare entity that primarily affects young adults and exhibits distinct clinical and histopathological features.

• #60 Adult Pineoblastoma: A Rare Case Report

  https://www.neurologyletters.com/article_200592.html

  Adult Pineoblastoma a rare tumor and needs to be considered in the differential diagnosis of pineal region tumors in adults. […] The present case represents a total workup on diagnosing pineoblastoma including radiology, histopathology, and immunohistochemistry. […] Because of the considerable overlap in imaging appearance with other pineal region tumors, histopathology with immunohistochemistry is required along with radiology to confirm diagnosis. […] Histopathology of Pineoblastoma is not distinctive, as they are composed of sheets of poorly differentiated embryonal neoplastic cells. Confirming the location of the tumor in the pineal region is thus first critical step in ruling out other non-pineal embryonal tumors, especially medulloblastomas. […] According to WHO Classification of CNS Tumors 2021, essential diagnostic criteria for pineoblastoma include 1) histopathological features of an embryonal tumor 2) High proliferative /mitotic activity AND 3) Pineal region location.

• #61 Pineoblastoma: Causes, Symptoms, Treatment & Prognosis

  https://my.clevelandclinic.org/health/diseases/24950-pineoblastoma

  Yes, some people may survive pineoblastoma. The five-year survival rate for pineoblastoma is 60% to 69.5%. This means that between 60% to nearly 70% of people with the condition are still alive five years later. While pineoblastoma can lead to a shortened life expectancy, treatment is available to help you feel better and help you live longer. […] Your healthcare provider will tell you your prognosis (outlook) after a pineoblastoma diagnosis. While there isnt a cure for pineoblastoma, treatment is available. A persons life expectancy varies based on many factors, like your overall health, how you respond to treatment and the speed of tumor growth.

• #62 Pineoblastoma in Children and Teens – Together by St. Jude™

  https://together.stjude.org/en-us/conditions/cancers/pineoblastoma.html

  Pineoblastoma is a rare brain tumor that may occur in children and young adults. […] A pinoblastoma diagnosis requires tests and procedures. The doctor will give your child a physical exam, ask about their medical history, and order tests such as: […] Diagnosis may require a physical exam, biopsy, imaging tests, neurological exam, lumbar puncture, blood tests, and genetic tests. […] The survival rate for newly diagnosed pineoblastoma is about 6785% in the U.S. This depends on the disease type, your childs age and health, and the type of treatment they have. Discuss your childs prognosis with their care provider.

• #63 Pineoblastoma: Causes, Symptoms, Treatment & Prognosis

  https://my.clevelandclinic.org/health/diseases/24950-pineoblastoma

  Yes, some people may survive pineoblastoma. The five-year survival rate for pineoblastoma is 60% to 69.5%. This means that between 60% to nearly 70% of people with the condition are still alive five years later. While pineoblastoma can lead to a shortened life expectancy, treatment is available to help you feel better and help you live longer. […] Your healthcare provider will tell you your prognosis (outlook) after a pineoblastoma diagnosis. While there isnt a cure for pineoblastoma, treatment is available. A persons life expectancy varies based on many factors, like your overall health, how you respond to treatment and the speed of tumor growth.

• #64 Recent Advances in Pineoblastoma Research: Molecular Classification, Modelling and Targetable Vulnerabilities

  https://www.mdpi.com/2072-6694/17/5/720

  Pineoblastoma (PB) is a rare yet lethal pediatric brain cancer of the pineal gland, a small endocrine organ that secretes melatonin to regulate the circadian rhythm. For PB patients ≤5 years of age, the overall survival rate is approximately 15%; metastatic PB is incurable. Standard treatment, including surgical resection, radiation, and systemic chemotherapy, improves survival but compromises neurocognitive function. A better understanding of the disease and the generation of preclinical models may enable re-evaluation of previous clinical trials, development of precision therapeutic strategies and improve patient outcome. Over the past 5 years, PB has been recognized to include several major subtypes driven by (i) loss of microRNA processing factors DICER and DROSHA characterized by a relatively good prognosis; (ii) loss of the retinoblastoma tumor suppressor RB1; and (iii) amplification or induction of the cMYC protooncogene, with the latter two subtypes exhibiting exceedingly poor prognosis. Recently, mouse models for the major PB subtypes (RB1-, DICER1- and DROSHA-) except MYC- have been established. This progress, including better understanding of the disease, cell of origin, tumor progression, role of autophagy, and targetable vulnerabilities, holds promise for novel therapeutic strategies to combat each subtype of this lethal childhood malignancy.

• #65 Pineoblastoma Diagnosis | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MD

  https://www.aaroncohen-gadol.com/en/patients/pineoblastoma/types/diagnosis

  To check for this, doctors may perform a lumbar puncture (spinal tap) to collect and analyze cerebrospinal fluid (CSF). This test can detect tumor cells or other signs that the cancer has spread (metastasized), which is critical for staging the disease and determining the most effective treatment plan. […] Accurate staging is essential for developing an effective treatment plan for pineoblastoma. Staging refers to assessing how far the cancer has spread and can significantly influence pineoblastoma prognosis and life expectancy. […] Early and accurate diagnosis can improve the chances of better outcomes and may influence the overall pineoblastoma survival rate. If you or a loved one is experiencing persistent symptoms that may suggest a brain tumor, seeking prompt medical advice is important. Early diagnosis can make a meaningful difference in treatment success and quality of life for those affected by pineoblastoma.

• #66 Treatment outcomes for pediatric pineoblastoma: a single institute experience in Taiwan – Kang – Therapeutic Radiology and Oncology

  https://tro.amegroups.org/article/view/4422/html

  Our purpose was to evaluate the clinical outcomes of pediatric pineoblastoma patients after multimodality treatment. […] The medical records of 11 children with pineoblastomas treated at Taipei Veterans General Hospital between 1991 and 2006 were retrospectively reviewed. […] The median overall survival was 2.3 years, with 2- and 5-year survival rates of 63.6% and 36.4%, respectively. […] Our results showed survival was associated with age at diagnosis. Long-term survival can be achieved for patients who receive radiotherapy plus chemotherapy. […] Further studies are needed to determine the best treatment options for pediatric pineoblastoma patients. […] The aim of this study was to examine the clinical outcomes of pediatric pineoblastoma patients after multimodality treatment at a single medical center in Taiwan.

• #67 Research Advances the Genetic Understanding of Pineoblastoma, a Rare Brain Cancer | Memorial Sloan Kettering Cancer Center

  https://www.mskcc.org/news/new-research-advances-genetic-understanding-pineoblastoma-rare-brain

  Experts say the findings about this type of tumor will lead to more accurate diagnoses and, potentially, to better treatments. […] Now this research in the lab is starting to bear fruit and help us better diagnose and treat patients, especially those with rare tumors like pineoblastoma. […] The study reports that pineoblastomas in adults and children are distinct from each other something that was not previously known. […] We were surprised to find these different molecular fingerprints between the adult and pediatric forms of the disease, Dr. Karajannis says. […] Further studies will be needed to assess the role of ARRB2 and the other genes we found to be recurrently mutated in pineoblastoma, Dr. Karajannis concludes.

• #68 Modeling germline mutations in pineoblastoma uncovers lysosome disruption-based therapy | Nature Communications

  https://www.nature.com/articles/s41467-020-15585-2

  Current treatments comprise maximal tumor resection followed by radiation and chemotherapy. […] There is therefore a pressing need to develop new approaches to treat metastatic PB. We used mRNA expression data from the two mouse PB models to calculate connectivity scores using GSEA and genome-wide connectivity (GWC) mapping. This in silico analysis consistently identified tricyclic drugs, some of which are FDA-approved antidepressants or antipsychotics, including NOR, promazine, norcyclobenzaprine and amitriptyline, as potential inhibitors for both Rb/p53-deleted and Rb/p53-mutated PBs. […] Our in silico drug prediction analysis identified multiple tricyclic, antidepressant drugs such as NOR, which ranked at the top, as potential therapeutics for Rb/p53-deleted and Rb/p53-mutated PBs as well as for Dicer/p53- and Rb/Dicer1/p53-deficient lesions. NOR inhibited growth of primary Rb/p53- and Rb/Dicer1/p53-deficient PB cells as well as a human PB cell line. NOR suppressed autophagy flux not by blocking assembly of the autolysosome but by disrupting the lysosome. Lysosome disruption caused cathepsin release and reduced acidity, leading to accumulation of large, non-functional autolysosomes and largely non-apoptotic cell death. NOR induced accumulation of lysosomes, cathepsin B activity and expression of the pro-autophagy factors LC3B and p62, likely as a result of an auto-regulatory feedback response to defective lysosomes and reduced autophagic flux. […] Thus, NOR and GEM effectively cooperate to suppress PB growth in preclinical models.

• #69 Pineoblastoma Diagnosis | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MD

  https://www.aaroncohen-gadol.com/en/patients/pineoblastoma/types/diagnosis

  Diagnosing pineoblastoma starts with recognizing symptoms like headaches, vision problems, and balance issues, leading to further evaluation. […] Imaging tests, particularly MRI, play a crucial role in detecting and assessing pineoblastoma. […] A biopsy is required to confirm the diagnosis and understand the tumor’s characteristics, guiding treatment decisions. […] Lumbar puncture may be used to check if the tumor has spread to other parts of the central nervous system, such as the spinal cord. […] Accurate diagnosis and staging are critical to improving pineoblastoma prognosis and planning the most effective treatment approach.

• #70 Pineoblastoma Overview | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MD

  https://www.aaroncohen-gadol.com/en/patients/pineoblastoma/types/overview

  Diagnosis typically uses imaging, biopsy, and cerebrospinal fluid analysis for accurate early detection. […] Treatment often involves surgery, radiation, and chemotherapy, with clinical trials providing additional options. […] Prognosis varies by age, tumor size, and treatment response; advancements in therapy are improving survival rates, and ongoing care supports quality of life.

• #71 Pineoblastoma Diagnosis | Expert Surgeon | Aaron Cohen-Gadol, MD | Aaron Cohen-Gadol, MD

  https://www.aaroncohen-gadol.com/en/patients/pineoblastoma/types/diagnosis

  Diagnosing pineoblastoma starts with recognizing symptoms like headaches, vision problems, and balance issues, leading to further evaluation. […] Imaging tests, particularly MRI, play a crucial role in detecting and assessing pineoblastoma. […] A biopsy is required to confirm the diagnosis and understand the tumor’s characteristics, guiding treatment decisions. […] Lumbar puncture may be used to check if the tumor has spread to other parts of the central nervous system, such as the spinal cord. […] Accurate diagnosis and staging are critical to improving pineoblastoma prognosis and planning the most effective treatment approach.

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