The Neuro-Oncology Genetics Clinic is under the direction of Scott Plotkin, MD, PhD, a medical oncologist in the Pappas Center for Neuro-Oncology at Massachusetts General Hospital. In this clinic, patients meet with a genetic counselor to review family and medical history and discuss options for genetic testing.

Should You Consider Genetic Counseling?

A referral to our clinic 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 clinic 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

Make an Appointment

The Neuro-Oncology Genetics Clinic is held once a month at the Pappas Center for Neuro-Oncology, located in the Yawkey Building, Suite 9E. To schedule an appointment, please call 617-724-8770.

Clinic Physicians

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