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Updated: May 12, 2026

Wild-type Blocking PCR Combined with Sanger Sequencing for Detection of Low-frequency Somatic Mutation
Published on: August 23, 2024
A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1
Paola Cianci1, Valentina Tono, Alessandra Sala
1Pediatric Genetic Unit, Pediatric Department at Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, S.Gerardo Hospital, Monza, Italy.
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.
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