Non-Hodgkin Lymphoma in a Patient With Cardiofaciocutaneous Syndrome

作者：Ohtake Akira; Aoki Yoko^*; Saito Yuka; Niihori Tetsuya; Shibuya Atsushi; Kure Shigeo; Matsubara Yoichi

来源：Journal of Pediatric Hematology/Oncology, 2011, 33(8): E342-E346.

DOI：10.1097/MPH.0b013e3181df5e5b

• RAF
• RAS-MAPK
• non-Hodgkin lymphoma
• cardiofaciocutaneous syndrome
• Noonan syndrome
• KRAS
• BRAF
• leukemia

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by a distinctive facial appearance, ectodermal abnormalities, and heart defects. Clinically, it overlaps with both Noonan syndrome and Costello syndrome. Mutations in KRAS, BRAF, and MAP2K1/2 (MEK1/2) have been identified in patients with CFC syndrome. BRAF mutations are involved in more than 80% of CFC syndrome patients, and we have reported earlier that 2 CFC patients with BRAF mutations developed acute lymphoblastic leukemia. Here we report a boy with CFC syndrome who developed non-Hodgkin lymphoma. At 2 months of age, he developed pneumonia with pleurisy and was diagnosed as having non-Hodgkin lymphoma (precursor T-cell lymphoblastic lymphoma) by cytopathologic examination of the pleural fluid. He was suspected of having Noonan syndrome because of his facial appearance, webbed neck, and cubitus valgus. Precursor T-cell lymphoblastic lymphoma was treated by the TCCSG NHL 94-04 protocol. At 9 years of age, he was clinically reevaluated and diagnosed as having CFC syndrome because of his distinctive facial appearance, multiple nevi, and moderate mental retardation. Sequencing analysis showed a germline p. A246P (c.736G>C) mutation in BRAF reported earlier in CFC syndrome. Molecular diagnosis and careful observation should be considered in children with CFC syndrome.

• 出版日期2011-12