Pediatric Brain Tumors Diagnosis

Memorial Sloan Kettering Cancer Center’s Pediatric Brain Tumor team diagnose and treat children, adolescents, and young adults who have any form of brain tumor. We tailor our innovative treatments for each patient, based on the characteristics of your child and of his or her disease.

Establishing the proper diagnosis is the crucial first step to ensure that your child receives the most appropriate treatment at Memorial Sloan Kettering. Once a child exhibits symptoms that may be caused by a brain tumor, imaging tests such as CT or MRI scans are performed. These tests help doctors see the extent of the tumor and plan for either the removal of the tumor or a biopsy. Doing this allows the doctors to know exactly what type of tumor they are treating. We also incorporate DNA methylation profiling, a diagnostic tool that significantly improves the accuracy of a diagnosis compared with standard methods alone.

Tumor Types

Tumors that form in the tissues and cells of a child’s brain are called primary brain tumors. In some cases, tumors that have originated in other parts of the body spread to the brain, but this is rare in children. The following is a list of some of the most common types of primary brain tumors found in children.

Accounting for almost half of all childhood brain tumors, astrocytomas are tumors that arise in brain cells resembling astrocytes, star-shaped cells in the central nervous system that support neurons and help remove debris. Historically, astrocytomas have been divided into the following types:

  • Low-grade astrocytomas, which include Grade 1 (juvenile pilocytic astrocytomas) and Grade 2 (diffuse astrocytomas) astrocytomas. 
  • High-grade astrocytomas include Grade 3 (anaplastic astrocytomas) and Grade 4 (glioblastoma multiforme) astrocytomas. 

However, the traditional classification has recently changed thanks to molecular genetic markers that have been shown to greatly improve how we diagnose, determine prognosis, and select treatment.

Diffuse pontine gliomas (DIPGs) are highly malignant astrocytomas that occur in a very delicate part of the brain. They are a type of brain stem glioma. Surgery cannot be done safely, and patients are usually treated with radiation therapy and may be candidates for new investigational treatments. Prognosis is very guarded.

Ependymomas develop within the ependymal cells lining the brain’s ventricles (a series of fluid filled cavities in the brain) and are treated with surgery and often radiation therapy. Children who have ependymomas that cannot be completely surgically removed are often also treated with chemotherapy. Though there are no treatments unique to ependymomas, radiation therapy is an extremely important part of the typical treatment plan.

Representing approximately 20 percent of childhood brain tumors, medulloblastomas and other embryonal brain tumors are tumors that, doctors think, arise from undeveloped stem cells in the portion of the brain that controls voluntary movement, known as the cerebellum. They are highly malignant, but with appropriate treatment many children can be cured. Medulloblastomas usually are accompanied by headaches and vomiting, particularly first thing in the morning. Sometimes the child will show behavioral changes and deterioration of their school performance. The diagnosis is suspected using CT or MRI scans and confirmed by a pathology examination after the tumor’s surgical removal. Treatment for medulloblastomas usually includes surgery, radiation therapy (except in the very young), and chemotherapy.

Germ cell tumors, as the name suggests, arise from germ cells, which during normal development of the embryo form into either egg or sperm cells. In the case of germ cell tumors located in the brain, the embryonic germ cells have mistakenly traveled to the brain, where they develop into tumors. Occurring most frequently in children, germ cell tumors comprise several different types of tumors (including germinomas, endodermal sinus tumors, and choriocarcinomas). Though their symptoms depend on the tumor location, germ cell tumors in the pineal region usually are accompanied by headaches and vomiting, particularly first thing in the morning. Tumors in the suprasellar region (near the pituitary gland) usually are accompanied by hormonal abnormalities, particularly increased urination and thirst. Sometimes the child will show behavioral changes and deterioration of their school performance. Most of them are malignant tumors but can often be cured with current treatments that may include surgery, radiation therapy, and chemotherapy.

Diffuse intrinsic pontine glioma, or DIPG, is a rare and aggressive malignancy that grows in the brainstem, the area that connects the brain to the spinal cord. Affecting about 200 children in the United States every year, DIPG is usually diagnosed between the ages of five and seven. Regarded as one of the most aggressive CNS tumors, most boys and girls succumb to their disease within one year of diagnosis.

Because of its fast-growing nature, symptoms come on very quickly and get worse rapidly. DIPG commonly causes problems with a child’s vision and balance. 

At Memorial Sloan Kettering Cancer Center (MSK), new efforts now focus on applying the power of immunotherapy to treat DIPG. This approach is modeled on the highly successful cancer immunotherapy regimen created for neuroblastoma — a disease of the sympathetic nervous system. 

Across all cancer types, physician-scientists are harnessing the body’s natural immune system and directing it toward cancer cells: fighting a malignancy in the same way as the body would a virus. For neuroblastoma, immunotherapies known as monoclonal antibodies Hu3F8 and 8H9—developed in MSK laboratories—detect and destroy cancer cells that have survived chemotherapy or radiation therapy. Because of these pioneering efforts, more than 50 percent of children treated here survive neuroblastoma, as compared to fewer than five percent in the 1980s. The antibody 8H9 can be tagged to an isotope, a form of radiation, which is directly targeting tumor cells in the spinal fluid. The “radiolabeled 8H9” has been used to treat over 120 children with neuroblastoma in the brain and several other types of CNS tumors.

Now, for children with DIPG, researchers are evaluating the efficacy of radiolabeled 8H9—injected directly in the brainstem tumor—to fight this deadly form of pediatric cancer. With members of MSK’s Departments of Pediatrics and Neurosurgery working in tandem with the Radiation Safety and Molecular Imaging and Therapy Services, the early results of this breakthrough study are promising. 

DIPG is a devastating childhood cancer. This area of research offers newfound hope to patients diagnosed with this brain tumor. Additional studies, already in the planning stages, are critical to maintaining the pace and progress of research so that we can help children fighting these cancers not just at MSK, but everywhere.

From time to time, pathologists make a diagnosis of a particular type of central nervous system tumors that very few doctors have heard of or feel comfortable treating. Working with partners around the hospital and colleagues around the world, our team of doctors regularly treats the rarest of cases. Examples of these tumors include: atypical teratoid/rhabdoid tumor (AT/RT), choroid plexus carcinoma, dysembryoplastic neuroepithelial tumors, and craniopharyngiomas.

Genetic Testing

We offer our patients the most advanced genetic testing, including MSK-IMPACT™ and Archer® FusionPlex®. These tests allow us to find genetic mutations and other changes that can cause cancer. They can provide a lot of information that’s important for diagnosis, prognosis, and treatment.