Conflicts of interest: none to declare.
A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1
Article first published online: 23 APR 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 6, pages 1401–1404, June 2013
How to Cite
2013. A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. Am J Med Genet Part A 161A:1401–1404., , , , , , , .
Paola Cianci and Valentina Tono equally contributed to this study.
- Issue published online: 22 MAY 2013
- Article first published online: 23 APR 2013
- Manuscript Accepted: 2 JAN 2013
- Manuscript Received: 21 AUG 2012
- Noonan syndrome;
- Burkitt lymphoma;
- RAF1 gene
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. © 2013 Wiley Periodicals, Inc.