A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1

Am J Med Genet A. 2013 Jun;161A(6):1401-4. doi: 10.1002/ajmg.a.35875. Epub 2013 Apr 23.

Abstract

This article reports on an association between Burkitt lymphoma and Noonan syndrome (NS) due to a RAF1 gene mutation. The patient was a 7-year-old boy with NS, who was included in the first series reporting the association between Noonan and RAF1, and who later presented with a 2-week history of asymptomatic unilateral tonsillar swelling and ipsilateral cervical lymphadenopathy. Histological and biological examinations of the tonsillar biopsy led to the diagnosis of Burkitt lymphoma. While there is a well-established association between NS and solid cell tumors, this is the first case described in the literature of Burkitt lymphoma in a patient with NS, and adds to the growing list of data supporting neoplasia's association with NS.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Burkitt Lymphoma / complications
  • Burkitt Lymphoma / diagnosis
  • Burkitt Lymphoma / genetics*
  • Child
  • Genetic Association Studies
  • Humans
  • Male
  • Mutation, Missense
  • Noonan Syndrome / complications
  • Noonan Syndrome / diagnosis
  • Noonan Syndrome / genetics*
  • Proto-Oncogene Proteins c-raf / genetics*

Substances

  • Proto-Oncogene Proteins c-raf