Pineoblastoma

Pineoblastoma Overview

Pineoblastomas are rare, aggressive brain tumors originating in the pineal gland, a small almond-shaped structure in the brain’s center.

As part of the endocrine system, the pineal gland is essential in producing melatonin, the hormone that regulates sleep. By releasing melatonin, the pineal gland helps signal to the body when it’s time to rest and wake up, influencing sleep patterns, mood, and seasonal biological rhythms.

A sagittal illustration showing the pineal gland and nearby structures
An illustration showing the pineal gland in relation to the cerebellum and other major structures near the center of the brain.

Pineoblastomas are a type of pineal tumor that develops from cells in the pineal gland. They are classified as grade 4 tumors because they’re unusually fast-growing and more likely to spread, or metastasize, to tissue or fluid around the brain. They’re also more likely to reoccur after treatment.

Pineoblastomas are most common in children, particularly those under age 10. As a result, medical professionals often categorize them as pediatric brain tumors, though they also form in adults. Recent advances in genetic and molecular profiling have identified four molecular subtypes of pineoblastomas in children, which include:

  • RB1-Mutated: Characterized by mutations in the RB1 gene, children with RB1 mutations are at higher risk for developing pineoblastoma and retinoblastoma. These tumor subtypes tend to be aggressive.
  • DICER1-Mutated: This tumor subtype is linked to mutations in the DICER1 gene and is associated with a cancer predisposition syndrome. This means that children with this mutation may also be at risk for other types of tumors.
  • MYC/MYCN-Amplified: This subtype is defined by the overexpression of genes that drive tumor growth. MYC or MYCN amplifications are often associated with very aggressive tumor growth and a high likelihood of metastasizing.
  • MAPK Pathway-Related: This subtype involves gene mutations associated with the MAPK pathway, which is short for mitogen-activated protein kinase. Tumors in this molecular subtype are more likely to metastasize.

What causes pineoblastoma?

The exact cause of pineoblastomas is poorly understood, but doctors think they stem from a combination of genetic and cellular factors.

Pineoblastomas most often occur in children and are thought to relate to the developing brain and the presence of cells more susceptible to mutations or abnormal growth. Biological genetic mutations can be inherited during conception—known as germline mutation—but these changes can also occur sporadically after conception, without any family history.

A mutation in the RB1 gene is a widely known risk factor for pineoblastomas in people with retinoblastoma, an eye cancer. A less common risk factor is a mutated DICER1 gene—a tumor protection gene that, when altered, can cause cells to grow and divide uncontrollably, leading to tumors.

Pineoblastomas have no known environmental triggers, like radiation or chemical exposure, that contribute to their growth. Ongoing research continues to explore the exact cellular and molecular mechanisms that lead to the condition.

neuro-oncologist yoshie umemura counsels a brain tumor patient

Pineoblastoma Symptoms

The symptoms of a pineoblastoma depend on the tumor’s size, spread, and impact on crucial structures surrounding the lesion. Because the pineal gland is near areas that control vision, eye movement, and the flow of cerebrospinal fluid (CSF) flow, symptoms often impair these structures. 

If you or someone you know have a pineoblastoma, you may experience one or more of the following symptoms:

  • Headaches: A pineoblastoma often causes increased pressure inside the skull, leading to persistent headaches that worsen over time and are more severe in the morning or when lying down.
  • Nausea and vomiting: Due to the same intracranial pressure, nausea and vomiting are common and can be more acute in the mornings.
  • Hydrocephalus: Pineoblastomas can also block the flow of cerebrospinal fluid (CSF) and cause hydrocephalus, or a fluid buildup in the brain, which leads to vomiting and lethargy.
  • Vision problems: These tumors can also compress nearby structures, like the optic nerve, and lead to double vision, blurred vision, or difficulty moving the eyes up or down. This difficulty with up or down eye movement is often identified as Parinaud’s syndrome.
  • Balance and coordination issues: If a pineoblastoma compresses parts of your brain that control motor skills, difficulties with balance and coordination can occur and show up as unusual clumsiness or unsteadiness.
  • Memory and cognitive changes: The same pressure on nearby brain structures from a tumor can cause concentration, memory, and information processing and recall issues.
  • Sleep disturbances: Because the pineal gland regulates sleep-wake cycles, pineoblastomas generally interfere with this cycle and can lead to insomnia or irregular sleep patterns.
  • Fatigue: Fatigue or changes in energy levels are common symptoms of brain tumors. This is due to the body’s response to the tumor and the energy needed to cope with the symptoms. As a pineoblastoma progresses, it’s common to feel increasingly tired or weak.

If you or a loved one is experiencing any of these symptoms, it’s essential to consult a trusted healthcare professional. While these symptoms overlap with other neurological conditions, an early diagnosis can lead to better outcomes.

Pineoblastoma Diagnosis

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. Next, they’ll complete an examination to assess your neurological function, including your reflexes, coordination, strength, sensation, and eye movements, as specific 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, including pineoblastomas. MRIs provide detailed images of your brain to help identify a tumor’s location, size, and characteristics. An MRI with contrast may differentiate the tumor from surrounding tissues and better determine its spread.
  • 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.
  • 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. This test can detect whether your tumor has spread within the central nervous system (CNS).
  • Spinal imaging: Because pineoblastoma has a high risk of spreading throughout the central nervous system, your healthcare provider may also request MRI scans of your spine to look for potential metastasis.
  • 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.
  • Genetic tests: In some cases, genetic testing may be done on the biopsy sample to identify specific mutations or molecular markers. These tests can also reveal if there is a hereditary component, especially in younger patients, and can guide your healthcare team in selecting the appropriate treatments, including targeted therapies or clinical trials.

Due to their complexity and rarity, diagnosing and treating pineoblastomas often requires a multidisciplinary team of neurologists, neurosurgeons, neuro-oncologists, radiation oncologists, and more. These specialists will work together to develop a uniquely individualized treatment plan for you or your loved one.

Pineoblastoma Treatment

Surgical Treatments

Surgery is often one of the first steps in treating a pineoblastoma, although it’s most often combined with radiation and chemotherapy. This multimodal approach reduces overall tumor size and helps relieve symptoms, manage residual tumor cells, and reduce the risk of metastasis.

Due to the pineal gland’s location deep within the brain, a complete removal is challenging and rare. In most cases, a partial resection, or maximal safe resection, is done to reduce the tumor’s size and alleviate pressure.

The following surgical methods are used to reach the pineal region safely:

  • Infratentorial supracerebellar approach: This is one of the most common surgical routes for pineoblastomas because it minimizes the risk to nearby critical structures like the brainstem. Operating through an incision at the back of the head, your neurosurgeon reaches the pineoblastoma by moving along the cerebellum, just below a membrane separating the cerebellum and cerebrum, called the tentorium.
  • Occipital transtentorial approach: This surgical path is practical when a more comprehensive view of the pineal region is needed. Your neurosurgeon will make an incision in the back of the head—known as the occipital region—and access the tumor by gently moving through or around the occipital lobe and tentorium. This approach is especially helpful for larger pineoblastomas or if the tumor extends upward.
  • Minimally invasive techniques: Whenever possible, neurosurgeons use minimally invasive surgical techniques to remove brain tumors, including pineoblastomas. These techniques involve smaller incisions and specialized instruments to access and remove the tumor, like endoscopic surgery and laser interstitial thermal therapy (LITT). These techniques can offer shorter recovery times, reduced risk of complications, and more minor scars.

Additional supportive surgical procedures for pineoblastomas can include:

  • Ventriculoperitoneal (VP) shunt: Sometimes, pineoblastomas can block the flow of cerebrospinal fluid (CSF), leading to hydrocephalus, or fluid buildup in the brain. A VP shunt can drain excess fluid from the brain to the abdomen to relieve pressure and symptoms like headaches, nausea, and vision problems.
  • Endoscopic third ventriculostomy (ETV): This minimally invasive procedure creates a small hole in the brain’s third ventricle, which allows CSF to bypass the blockage caused by the tumor and drain normally. An ETV is generally preferred over a VP shunt because it avoids the need for a permanent shunt.
an illustration showing the occipital-transtentorial approach to tumors of the pineal region depicting the pineal gland, the precentral cerebellar vein, vein of galen, and basal vein of rosenthal.
An illustration showing the surgeon’s view of the occipital-transtentorial approach for a pineoblastoma.

Ultimately, the selected surgical approach will depend on the severity of your condition, your age, the size of your pineoblastoma, and your surgeon’s ability to reach the tumor safely.

radiation oncologist igor barani counsels a patient before gamma knife treatment

Nonsurgical Treatment

Nonsurgical treatments for pineoblastomas are essential because they are highly aggressive and, in most cases, cannot be entirely removed through surgery. The choice and sequence of treatments will depend on your age, overall health, the tumor’s characteristics, and whether or not it has spread.

Nonsurgical treatments for pineoblastoma include:

  • Radiation therapy: Radiation therapy is often used after surgery to reduce the risk of recurrence, especially for high-grade tumors. By relying on precisely aimed beams of radiation to destroy or shrink tumors in the body, radiation therapy damages the DNA of the tumor cells, which then lose their ability to reproduce and eventually die.
  • Stereotactic radiosurgery: This treatment method uses an exact form of radiation that delivers a focused dose to the tumor while sparing surrounding healthy tissue. The two most common forms are:
    • Gamma Knife radiosurgery: This option destroys abnormal tissue through radiation beams focused on a precise area and is only lethal to cells within the immediate vicinity. The Gamma Knife can only be used to treat lesions in the head, as it involves attaching a metal frame to the skull for accuracy. 
    • CyberKnife radiosurgery: This technique uses targeted energy beams to destroy tumor tissue while sparing healthy tissue. It uses image-guided robotics to deliver surgically precise radiation to help destroy tumors.
  • Proton therapy: A specialized form of radiation that uses proton particles rather than X-rays, proton therapy allows for more targeted radiation with reduced exposure to surrounding tissue. It’s especially beneficial for children, as it can help reduce long-term side effects.
  • Chemotherapy: Chemotherapy is a standard treatment for pineal tumors and can be used as a primary treatment or in combination with surgery and radiation. Neuro-oncologists often treat pineoblastomas with combination chemotherapy, which relies on multiple drugs that work together to destroy tumor cells more effectively. Common drugs used include cisplatin, carboplatin, etoposide, and cyclophosphamide.
  • High-dose chemotherapy with stem cell transplant: For more aggressive or recurrent pineoblastoma cases, high-dose chemotherapy can be used, although it damages bone marrow at higher rates than standard chemotherapy. As a result, stem cells are collected before starting high-dose chemotherapy and then infused afterward to help restore blood cell production.
  • Targeted therapies: In cases where traditional treatments are less effective, these therapies focus on the tumor’s specific molecular or genetic characteristics to inhibit its growth while minimizing harm to healthy cells. While targeted therapy is not yet a standard treatment for pineoblastomas, researchers are investigating approaches focusing on specific mutations or molecular characteristics of pineoblastoma cells.
  • Corticosteroids: This class of medication can be used in the short term to reduce inflammation and brain swelling caused by pineoblastoma.

Due to pineoblastomas’ aggressive nature and high reoccurrence rate, long-term monitoring with consistent imaging studies is crucial—even after a successful initial treatment.

One Central Location with Multiple Treatment Options

At Barrow Neurological Institute’s world-class Brain and Spine Tumor Program, we treat people with complex tumors like pineoblastomas in one robust, full-service location. Our sophisticated multidisciplinary team—neurosurgeons, head and neck surgeons, neuro-oncologists, medical oncologists, and radiation oncologists, to name a few—can offer you the latest treatments for head and neck cancers, including metastatic cancers.

We also give our patients access to various neuro-rehabilitation specialists to maximize independence. Neuro-rehabilitation can include physical therapy to help you regain strength and balance, speech therapy to support speaking, expressing thoughts, or swallowing, and occupational therapy to aid you in managing daily activities like bathing, dressing, and using the bathroom. Treating a brain or spinal cord tumor is about more than extending your life—it’s also focused on enhancing your quality of life.

Clinical Trials

In partnership with the Ivy Brain Tumor Center, Barrow Neurological Institute is proud to be one of the country’s largest sites for brain tumor clinical trials

Clinical trials are part of the cancer research process to determine if new treatments are safe, effective, or even better than the current standard treatment. Although not yet FDA-approved, clinical trials can be the best option for those with difficult-to-treat tumors to improve the odds of finding an effective treatment for them and for future patients. To search for clinical trials that are now enrolling, visit here.

Common Questions

How common are pineoblastomas?

Pineoblastomas are very rare, making up less than one-half of one percent of all primary brain tumors in the United States. In terms of pineal tumors, they make up between 15 to 25 percent.

Who gets pineoblastomas?

Pineoblastomas are most common in children, particularly those under age 10. While they can also appear in teenagers, pineoblastomas are rare in adults. As a result, pineoblastomas are often classified as pediatric brain tumors.

Pineoblastomas are slightly more common in those with certain genetic predispositions, like retinoblastoma. Other rare genetic syndromes, such as Li-Fraumeni syndrome, may also increase the risk of pineoblastoma, although the association is less common.

What is the prognosis for those with pineoblastomas?

As with any tumor, a prognosis depends on a person’s age and overall health, how early the tumor was detected, its spread or metastasis, and the response to treatment.

Unfortunately, pineoblastomas tend to have challenging prognoses: they’re classified as grade 4 tumors and are among the most difficult pediatric brain tumors to treat. They also have a high probability of reoccurrence, which also affects prognosis.

Five-year survival rates for children and young adults range between 60 to 85 percent. Children under age four have a lower survival rate, and those under age three have an even poorer prognosis due to vulnerabilities with aggressive treatment. In comparison, adolescents and adults can have a better prognosis because they may be able to tolerate more intensive therapies.

While pineoblastomas are challenging to treat, some patients do achieve long-term remission, particularly with aggressive, multimodal treatment.

Can pineoblastomas be prevented?

Currently, there is no known way to prevent pineoblastomas—they’re extremely rare tumors, and their exact causes are not yet fully understood. No specific environmental factors are linked to pineoblastomas, and lifestyle changes or environmental interventions do not prevent them.

While there’s no way to prevent pineoblastomas, genetic counseling for at-risk families and early detection in high-risk individuals can be helpful. If you have a known genetic predisposition, such as a mutation in the RB1 or DICER1 gene, regular check-ups and imaging studies may help detect any abnormalities earlier.

Symptom mindfulness—such as paying special attention to increasing headaches and intracranial pressure, vision problems, or unusual sleep disturbances—can also lead to early diagnosis, improving the odds of successful pineoblastoma treatment.

Medically Reviewed by Matthew A. Smith-Cohn, DO on November 26, 2024

Additional Resources

Genetic and Rare Diseases Information Center

National Organization for Rare Disorders

Group 49
  Percent

Pineoblastomas are very rare, making up less than half of one percent of all primary brain tumors.

Brain Tumor Survivor & Caregiver Symposium

Neurosurgery

Neurosurgery

Barrow Neurosurgery Resident Joseph DiDomenico, MD, talks about the neurosurgical options available…
Neuro-Oncology

Neuro-Oncology

Barrow Neuro-Oncology Fellow Ramya Tadipatri, MD, explains the role of neuro-oncology in…
Radiation Oncology

Radiation Oncology

Barrow Radiation Oncologist William Kennedy, MD, gives an overview of how radiation…
Grit, Grace, and Brain Tumors: An Inside Outside Perspective

Grit, Grace, and Brain Tumors: An Inside Outside Perspective

Barrow Social Worker Ashley Bridwell, LMSW, CPOI, talks about neuro-rehabilitation for people…
Clinical Trials

Clinical Trials

Jocelyn Harmon, director of clinical operations for the Ivy Brain Tumor Center,…
Informing Health: A Guide to Healthcare Information

Informing Health: A Guide to Healthcare Information

A practical guide for finding reliable healthcare information online.

Advancements in Brain Cancer Treatment

Trials to Triumph: Celebrating Every Victory in Brain Cancer Treatment

Trials to Triumph: Celebrating Every Victory in Brain Cancer Treatment

The Ivy Brain Tumor Center is dedicated to pioneering cutting-edge treatments for…
Discovering New Treatments For Brain Cancer

Discovering New Treatments For Brain Cancer

Ivy Brain Tumor Center is dedicated to providing the special care you…
Revolutionizing Brain Tumor Treatment at the Ivy Brain Tumor Center

Revolutionizing Brain Tumor Treatment at the Ivy Brain Tumor Center

The Ivy Brain Tumor Center is committed to advancing their phase zero…
Brain Cancer Breakthrough: New Clinical Trial Tests Direct-to-Tumor Method

Brain Cancer Breakthrough: New Clinical Trial Tests Direct-to-Tumor Method

Dr. Nader Sanai discusses the new clinical trial employing the direct-to-tumor method…

References

  1. Abramov I, Scherschinski L, Labib MA, Srinivasan VM, Morgan CD, Catapano JS, Lawton MT. Supracerebellar Infratentorial Approach for a Malignant Pineal Region Tumor Mimicking a Cavernous Malformation. World Neurosurg. 2022 Nov;167:122. doi: 10.1016/j.wneu.2022.08.112. Epub 2022 Aug 31. PMID: 36055618.