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.
Cianci, P., Tono, V., Sala, A., Locatelli, L., Carta, C., Rizzari, C., et al. (2013). A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 161(6), 1401-1404 [10.1002/ajmg.a.35875].
A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1
Rizzari, C;BIONDI, ANDREA;
2013
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. © 2013 Wiley Periodicals, Inc.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.