Premium
A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1
Author(s) -
Cianci Paola,
Tono Valentina,
Sala Alessandra,
Locatelli Laura,
Carta Claudio,
Rizzari Carmelo,
Biondi Andrea,
Selicorni Angelo
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35875
Subject(s) - noonan syndrome , asymptomatic , medicine , lymphoma , biopsy , burkitt's lymphoma , mutation , dermatology , pathology , gene , biology , genetics
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.