Non-Hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome

Akira Ohtake, Yoko Aoki, Yuka Saito, Tetsuya Niihori, Atsushi Shibuya, Shigeo Kure, Yoichi Matsubara

研究成果: Article査読

12 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)e342-e346
ジャーナルJournal of Pediatric Hematology/Oncology
33
8
DOI
出版ステータスPublished - 2011 12

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 血液学
  • 腫瘍学

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