title: A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1.
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.
authors.affiliation: Pediatric Genetic Unit, Pediatric Department at Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, S.Gerardo Hospital, Monza, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Cianci
authors.forename: Valentina
authors.initials: V
authors.lastname: Tono
authors.forename: Alessandra
authors.initials: A
authors.lastname: Sala
authors.forename: Laura
authors.initials: L
authors.lastname: Locatelli
authors.forename: Claudio
authors.initials: C
authors.lastname: Carta
authors.forename: Carmelo
authors.initials: C
authors.lastname: Rizzari
authors.forename: Andrea
authors.initials: A
authors.lastname: Biondi
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
mesh_terms: D019943:Amino Acid Substitution; D002051:Burkitt Lymphoma / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009634:Noonan Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D019908:Proto-Oncogene Proteins c-raf / Q000235:genetics*
chemical_list: D019908:Proto-Oncogene Proteins c-raf