Neuro-Oncology Genetics Program

The Neuro-Oncology Genetics Program helps to identify and provide comprehensive, coordinated medical care for patients and families with neurofibromatosis (NF1, NF2, schwannomatosis) as well as those with strong personal and family histories of cancers of the central nervous system. Our program is led by Scott Plotkin, MD, PhD, Executive Director of the Pappas Center for Neuro-Oncology at Mass General Cancer Center.

Patients are managed comprehensively with our team of physicians and genetic counselors. We also provide risk assessment for patients interested in an evaluation for hereditary cancers. During the initial genetics consultation, family history is carefully reviewed. If your personal or family history suggests a possible genetic risk, we will discuss the option of genetic testing.

Should You Consider Genetic Counseling?

Our program may be appropriate if you:

• Are seeking information about confirmation of a diagnosis, family planning and/or identification of at-risk family members for one of the following conditions:
• Neurofibromatosis type 1 (NF1)
• Neurofibromatosis type 2 (NF2)
• Schwannomatosis
• Have a strong personal and/or family history of brain or other central nervous system cancers and tumors
• Have a personal history of brain tumor and significant family history of other cancers

Hereditary Diseases

The syndromes most commonly discussed with patients in our program include:

• Neurofibromatosis type 1: Common features include multiple café-au-lait macules (hyperpigmented regions) on the skin, freckling in skin-fold regions (armpit creases, groin), Lisch nodules (iris hamartomas), multiple cutaneous neurofibromas and learning disabilities/behavioral disorders. It is caused by mutations in the NF1 gene. Learn more
• Legius syndrome: Features include multiple café-au-lait macules, possible skin-fold freckling, and behavioral disorders in the absence of neurofibromas and other NF1-related tumors. It is caused by mutations in the SPRED1 gene
• Neurofibromatosis type 2: Features include bilateral vestibular schwannomas, schwannomas of other nerves (cranial and peripheral), meningiomas, ependymomas and cataracts. It is caused by mutations in the NF2 gene (also known as Merlin). Learn more
• Schwannomatosis: Characterized by multiple schwannomas on nerves throughout the body, excluding the acoustic nerves. To date, the genes known to cause schwannomatosis are SMARCB1/INI1 and LZTR1. Learn more
• Familial brain tumors: Characterized by multiple individuals in a family with the same (or related) tumor type. Various genes may be discussed based on the family history

View our library of fact sheets about inherited cancer risk and genetic testing.