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It is possible that the main title of the report Medulloblastoma is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • primitive neuroectodermal tumor of the posterior fossa

Disorder Subdivisions

  • None

General Discussion

Medulloblastoma is the most common malignant brain tumor in children. Medulloblastomas by definition occur in the cerebellum, which is the part of brain located at the base of the skull, just above the brainstem. The cerebellum is involved in many functions including coordination of voluntary movements (e.g., walking, fine motor skills) and regulating balance and posture. Medulloblastomas arise from primitive, undeveloped cells in the brain. Most medulloblastomas occur in infants and children. Less commonly, these tumors can develop in adults as well. Symptoms associated with a medulloblastoma include headaches in the morning that improve as the day goes on, recurrent vomiting and difficulty walking and with balance. Medulloblastomas can spread to other areas of the central nervous system. The exact cause of a medulloblastoma is unknown.


The specific symptoms associated with a medulloblastoma will vary from one person to another based upon the exact location and size of a medulloblastoma and whether the tumor has spread to other areas. Affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.

The symptoms of medulloblastoma usually result from increased pressure within the skull (intracranial pressure). Medulloblastomas generally arise in or near the base of the skull, an area known as the posterior fossa. The posterior fossa contains the brainstem and the cerebellum.

Medulloblastomas typically involve the fluid-filled fourth cavity (ventricle) of the brain. The brain has four cavities called ventricles that are filled with cerebrospinal fluid (CSF) and joined by channels, through which CSF circulates. Because the tumor often fills the fourth ventricle, CSF circulation is obstructed, resulting in hydrocephalus. Hydrocephalus is a condition in which the accumulation of excess CSF in the brain causes a variety of symptoms, including repeated, often severe vomiting, lethargy and headaches that frequently occur in the morning and improve as the day goes on. Additional symptoms may include irritability, increased head size, and paralysis (paresis) of the muscles that help control eye movements (extraocular muscles).

Many infants and children with a medulloblastoma develop papilledema, a condition in which the optic nerve swells because of increased intracranial pressure. The optic nerve is the nerve that transmits impulses from the retina to the brain. Papilledema can cause reduced clarity of vision. Because many the symptoms associated with a medulloblastoma are nonspecific and often subtle, papilledema may the first sign that brings affected infants and children to the attention of a neurologist.

Children with medulloblastoma often have evidence of cerebellar dysfunction. Symptoms may include poor coordination, difficulty walking, and clumsiness (ataxia). Affected children may fall frequently and develop an unsteady, clumsy manner of walking (unsteady gait). They may tend to stand with their feet widely separated, stagger or sway when walking and easily lose their balance.

As a tumor grows or spreads, additional symptoms can develop. Such symptoms may include double vision (diplopia), rapid, jerky movements of the eyes (nystagmus), facial weakness, ringing in the ears (tinnitus), hearing loss and a stiff neck. Some children with double vision may tilt their heads in an effort align the two images.


The exact underlying cause of medulloblastoma is unknown. Most cases occur randomly for no apparent reason (sporadically).

Many cases of medulloblastoma are associated with chromosomal abnormalities. These abnormalities are not inherited (i.e., are not passed on from one generation to the next), but occur at some unknown point during a child's development, even during the development of a fetus or embryo. Although medulloblastomas are associated with chromosomal changes, they are not inherited.

In individuals with cancer, malignancies may develop due to abnormal changes in the structure and orientation of certain cells. As mentioned above, the specific cause or causes of such changes are unknown. However, research suggests that abnormalities of DNA (deoxyribonucleic acid), which is the carrier of the body's genetic code, are the underlying basis of cellular malignant transformation. Depending upon the form of cancer present and several other factors, these abnormal genetic changes may occur spontaneously for unknown reasons (sporadically).

Evidence suggests that, in approximately one-third to one-half of individuals with a medulloblastoma, tumor cells may have a specific chromosomal abnormality, known as isochromosome 17q, with associated loss or inactivation of certain genetic information. Chromosomes, which are present in the nucleus of human cells, carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as "p" a long arm identified by the letter "q" and a narrowed region at which the two arms are joined (centromere).

An isochromosome is an abnormal chromosome with identical arms on each side of the centromere. More specifically, in certain cases of medulloblastoma, there is duplication of the long arm and deletion of the short arm of chromosome 17. Some researchers suggest that such structural abnormalities of chromosome 17 may lead to inactivation of a gene on the chromosome that normally acts as a tumor suppressor, potentially leading to malignant transformation of certain cells. However, the implications of such findings remain unclear.

Additional chromosomal abnormalities have been identified in individuals with medulloblastoma including abnormalities on chromosome 1, 7, 8, 9, 10q, 11, and 16. How these various abnormalities play a role in the development of medulloblastoma is unknown. Further research is needed to determine the complex underlying mechanisms responsible for the development of a medulloblastoma.

In individuals with cancer, including medulloblastoma, malignancies may develop due to abnormal changes in the structure and orientation of certain cells known as oncogenes or tumor suppressor genes. Oncogenes control cell growth; tumor suppressor genes control cell division and ensure that cells die at the proper time. Oncogenes that are associated with medulloblastoma include ERBB2, MYCC, and OTX2. Many medulloblastomas are characterized by alterations in specific molecular signaling pathways that result in uncontrolled cell growth. Pathways implicated in medulloblastoma include the Wnt pathway, the SHH pathway and the myc pathway.

In extremely rare cases, medulloblastomas occur in individuals who have certain inherited disorders including Gorlin syndrome (nevoid basal cell carcinoma), Turcot syndrome, Li Fraumeni syndrome, Rubinsten-Taybi syndrome, Nijmegen breakage syndrome, neurofibromatosis and ataxia-telangiectasia. Individuals with these disorders have an increased risk of developing a medulloblastoma. (For more information on these disorders, choose the specific disorder name in the Rare Disease Database.)

Researchers theorize that medulloblastoma originates from immature cells that are somehow prevented from maturing (i.e., differentiating) into more specialized cells, which have "intended", specific functions within the tissue in question. Such immature or incompletely differentiated cells may grow and divide at an unusually rapid, uncontrolled rate that cannot be contained by the body's natural immune defenses. Eventually, such proliferation of abnormal cells may result in formation of a mass known as a tumor (neoplasm).

Several different subtypes of medulloblastoma have been identified including anaplastic (large cell) medulloblastoma; classic medulloblastoma; desmoplastic nodular medulloblastoma; medulloblastoma with extensive nodularity (MBEN); medullomyoblastoma; and melanotic medulloblastoma. The various subtypes of medulloblastoma appear different on a cellular level, but as yet to not influence treatment options. However, in the future such distinctions may be used to develop novel, targeted therapies based on a particular subtype and other factors.

Extensive transcriptional profiling of human medulloblastomas has recently yielded a second and more precise classification system that stratifies medulloblastomas according to their mRNA expression profiles. Four subgroups with distinct mRNA signatures have been identified, and are presently categorized as WNT, Sonic hedgehog (SHH), Group 3 and Group 4.

Medulloblastomas in the WNT subgroup feature genetic alterations that affect members of the Wnt signaling pathway, which are linked to the processes of embryogenesis and oncogenesis. Mutations of the ß-catenin gene and monosomy 6 are among the more common genetic events that define this subgroup, and the incidence rate among males and females is approximately equal. WNT subgroup medulloblastomas tend to affect older children and are rare in adults. Among the different subgroups, WNT tumors have the best prognosis and clinical outcomes. The SHH subgroup is characterized by up-regulation of members of the SHH signaling family. Common genetic events exclusive to this subgroup are mutations in the genes for PTCH, the receptor of SHH, and SUFU, a negative regulator of SHH signaling pathway. SHH tumors are the most common subgroup of medulloblastoma found in infants and adults, and they carry an intermediate prognosis. Like the WNT subgroup, the incidence of SHH tumors is equal for males and females. Group 3 tumors are characterized by over-amplification of MYC and genes related to phototransduction and glutamate signaling. These tumors are also known for their high frequency of metastasis and have the worst prognosis of any medulloblastoma subtype. Group 3 tumors are extremely rare in adults, and are more prevalent in males than females. The last subgroup, currently known as Group 4, is characterized by up-regulation of genes related to neuronal or glutameminergic signaling. Although these tumors are common across all age groups, comparatively little is known about them. Like Group 3, Group 4 tumors are more prevalent in males and have a high tendency to metastasize. Their prognosis is considered intermediate.

Medulloblastoma is sometimes classified as a primitive neuroectodermal tumor or PNET. PNETs are a group of tumors that arise from primitive nerve cells in the brain. A medulloblastoma is sometimes referred to as a primitive neuroectodermal tumor of the posterior fossa.

Affected Populations

Medulloblastomas can affect individuals of any age, but occur most often in children under the age of 15 with a peak incidence between 3 and 9 years of age. Medulloblastomas are the most common malignant brain tumor in children. Approximately 80 percent of affected individuals are under the age of 15. Medulloblastomas are extremely rare in adults accounting for 1-2 percent of all cases of brain tumors in adults. In adults, most medulloblastomas occur in individuals between 20-44 years of age. Medulloblastomas are extremely rare in individuals over the age of 45.

In children, males are affected more often than females. However, in adults the ratio is the same. The exact incidence of medulloblastomas is not known and many different estimates are given the medical literature. Generally, medulloblastomas account for 2 percent of all primary brain tumors and 18 percent of all pediatric brain tumors. Approximately 1,000 new cases are diagnosed in children and adults each year in the United States.

Standard Therapies


Medulloblastoma is diagnosed based upon thorough clinical and neurological evaluation, detection of characteristic symptoms and physical findings, patient history, and specialized diagnostic tests. Such studies may include blood tests; evaluation of visual acuity, visual fields, and eye movements; the use of an instrument (ophthalmoscope) that visualizes the inside of the eyes (i.e., to detect papilledema); advanced imaging techniques; and/or other diagnostic tests.

The main specialized imaging technique used to diagnosis medulloblastoma is magnetic resonance imaging (MRI) of the brain and spine. MRI uses a magnetic field and radio waves to create detailed cross-sectional images of organs and tissues. Experts indicate that, if available, MRI is preferable to computed tomography (CT) scanning as a diagnostic means for medulloblastomas since it may provide a better indication of tumor extent, possible invasion of the meninges, and spine involvement. An MRI is performed before and after a patient receives an intravenous injection of gadolinium-based contrast material. The contrast causes a tumor to appear as a bright mass (much brighter than surrounding tissue). When an MRI is unavailable, a CT scan may be performed. During a CT scan, a computer and x-rays are used to create a film showing cross-sectional images of internal structures.

Gadolinium-based MRI of the spine may also be performed to detect whether a medulloblastoma has spread to the cerebrospinal fluid and the spine. In some cases, a lumbar puncture may also be recommended for analysis of tumor cells within the CSF. (During a lumbar puncture, a hollow needle is inserted into the spinal canal to withdraw CSF for analysis.) However, experts may advise that lumbar puncture is inadvisable (contraindicated) in most cases before tumor resection.

Surgical removal and microscopic examination (biopsy) of the affected tissue may be performed to confirm a diagnosis of medulloblastoma. Other diagnostic studies may also be conducted in some instances.


The treatment of medulloblastoma may require the coordinated efforts of a team of medical professionals, including pediatricians; specialists in diseases of the nervous system (neurologists), the diagnosis and treatment of cancer (medical oncologists), and the use of radiation in the treatment of cancer (radiation oncologists); pediatric oncologists; oncology nurses; neurosurgeons; and/or other health care professionals. The specific treatment approaches used may depend upon tumor size, location, nature, stage, and/or progression; patient age and overall health; and other factors.

Aggressive surgery followed by radiotherapy and chemotherapy, which may be used alone or in combination, are the current standard used to treat individuals with medulloblastoma. Therapies that are effective in one group may not be effective in another group. For example, chemotherapy that has been effective in children and adolescents may be ineffective or less well tolerated in adults.

Surgery may be performed to obtain a biopsy sample, relieve pressure on the brain by draining CSF accumulation, and to remove as much as the tumor as possible without damaging surrounding brain tissue. Surgery is directed toward complete tumor removal or removal of as much of the tumor as possible. Some studies have indicated that the outcome improves when all of the tumor visible to a surgeon's eyes can be removed (gross total resection). However, gross total resection is not always possible. Shortly after surgery, advanced imaging techniques (e.g., CT, MRI) and other diagnostic methods may be conducted to determine how much of the tumor is left and to aid in the determination of appropriate, postoperative treatment approaches.

In rare cases, shunting may be recommended before surgery to remove the tumor. Shunting will help remove excess fluid and decrease intracranial pressure. Shunts are specialized devices that drain excess CSF away from the brain to another part of the body for absorption into the bloodstream. However, preoperative CSF shunting is not routinely conducted due to certain risks (e.g., herniation, possible facilitation of the spread of cancerous cells) and since hydrocephalus is alleviated by tumor removal in many individuals. Some patients may need a shunt after the operation for tumor removal.

Standard postoperative treatment often includes radiation therapy (radiotherapy) of the brain and spine (craniospinal irradiation) beginning approximately two to four weeks after surgery. During radiotherapy, radiation (via x-rays or other sources of radioactivity) is passed through selected regions of the body to destroy cancer cells and shrink tumors. Radiotherapy is provided in carefully determined dosages to help minimize damage to normal body cells. Radiotherapy is an important adjunct therapy because it can destroy microscopic cancer cells that are too small to be seen and may remain after surgery. These microscopic cells may lead to a recurrence of the tumor.

In advanced cases, recommended therapy may also include treatment with certain anticancer drugs (chemotherapy) during or after radiotherapy. Physicians may recommend combination therapy with multiple chemotherapeutic drugs that have different modes of action in destroying tumor cells and/or preventing them from multiplying. Chemotherapeutic drugs that have been used to treat medulloblastoma include vincristine, lomustine, cisplatin, cyclophosphamide, carboplatin, or etoposide.

Chemotherapy may be given to infants and young children under the age of three instead of radiotherapy to avoid the potential long-term side effects of radiotherapy. In some cases, radiotherapy may be recommended when those children grow older.

Because there are fewer adults with medulloblastoma than children, effective treatment regimens have yet to be established for adults. The various chemotherapeutic drugs that have been used to treat children have been less effective in adults who often experience worse side effects.

Investigational Therapies

Many researchers are evaluating the safety and effectiveness (efficacy) of high-dose therapy with certain chemotherapeutic drugs--possibly in combination with radiation therapy and/or other treatments--followed by stem cell/bone marrow transplantation to help restore healthy bone marrow.

Researchers are also studying experimental drugs that target the specific underlying genetic makeup of tumor cells. These target therapies ideally would limit damage to surrounding tissue. More research is necessary to determine the long-term safety and effectiveness of such therapies for the treatment of individuals with medulloblastoma. Therapies designed to stimulate the body's own immune system to combat the tumor are under investigation. In addition, the use of modified viruses that will kill only tumor cells but not normal cells is being investigated in the laboratory.

Information on current clinical trials is posted on the Internet at All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Toll-free: (800) 411-1222

TTY: (866) 411-1010


For information about clinical trials sponsored by private sources, in the main, contact:

For information about clinical trials conducted in Europe, contact:

Contact for additional information about medulloblastoma:

Corey Raffel, MD, PhD

Professor of Clinical Neurosurgery

Department of Neurological Surgery, M780

University of California, San Francisco

505 Parnassus Ave.

San Francisco, CA 94143-0112

415-353-3489 (office)

415-353-3907 (fax)



Sandberg AA, Stone JF, eds. Medulloblastoma, Primitive Neuroectodermal Tumors, and Pineal Tumors. In: The Genetics and Molecular Biology of Neural Tumors. 2008 Humana Press, Totowa, NJ. pp. 343-430.

Raffel C. Medulloblastoma. NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:404.


Bouffet E. Medulloblastoma in infants: the critical issues of the dilemma. Curr Oncol. 2010;17:2-3.

Gajjar A, Pizer B. Role of high-dose chemotherapy for recurrent medulloblastoma and other CNS primitive neuroectodermal tumors. Pediatr Blood Cancer. 2010;54:649-51.

Lafay-Cousin L, Strother D. Current treatment approaches for infants with malignant central nervous system tumors. Oncologist. 2009;14:433-444.

Garre ML, Cama A, Bagnasco F, et al. Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome - a new clinical perspective. Clin Cancer Res. 2009;15:2463-2471.

Gilbertson RJ, Ellison DW. The origins of medulloblastoma subtypes. Annu Rev Pathol. 2008;3:341-365.

Packer RJ, Vezina G. Management of and prognosis with medulloblastoma: therapy at a crossroads. Arch Neurol. 2008;65:1419-1424.

Rutkowski S, Bode U, Deinlein F, et al. Treatment of early childhood medulloblastoma by postoperative chemotherapy alone. N Engl J Med. 2005;352:978-986.


MacDonald T. Medulloblastoma. Emedicine Journal,March 1, 2012. Available at: Accessed:March 26, 2013.

American Brain Tumor Association. Medulloblastoma. Copyright 2012. Available at: Accessed:March 26, 2013.


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For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see