A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. Issue 6 (23rd April 2013)

• Record Type: Journal Article
• Authors: Cianci, Paola; Tono, Valentina; Sala, Alessandra; Locatelli, Laura; Carta, Claudio; Rizzari, Carmelo; Biondi, Andrea; Selicorni, Angelo
• Is Part Of: American journal of medical genetics. Volume 161:Issue 6(2013:Jun.)
• Page Start: 1401
• Page End: 1404
• Publication Date: 2013-04-23
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35875
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga35875-sec-0001" sec-type="section"> <p>This article reports on an association between Burkitt lymphoma and Noonan syndrome (NS) due to a <italic>RAF1</italic> 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 <italic>RAF1</italic>, 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.</p> </sec> </abstract>