Document Detail

Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome.
MedLine Citation:
PMID:  20523244     Owner:  NLM     Status:  MEDLINE    
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.
Akira Ohtake; Yoko Aoki; Yuka Saito; Tetsuya Niihori; Atsushi Shibuya; Shigeo Kure; Yoichi Matsubara
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of pediatric hematology/oncology     Volume:  33     ISSN:  1536-3678     ISO Abbreviation:  J. Pediatr. Hematol. Oncol.     Publication Date:  2011 Dec 
Date Detail:
Created Date:  2011-11-01     Completed Date:  2011-12-20     Revised Date:  2012-06-21    
Medline Journal Info:
Nlm Unique ID:  9505928     Medline TA:  J Pediatr Hematol Oncol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  e342-6     Citation Subset:  IM    
Department of Pediatrics, Saitama Medical University, Moroyama, Saitama, Japan.
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MeSH Terms
Ectodermal Dysplasia / complications*,  genetics*
Failure to Thrive / complications*,  genetics*
Heart Defects, Congenital / complications*,  genetics*
Intellectual Disability / complications,  genetics
Lymphoma, Non-Hodgkin / complications*,  genetics*,  therapy
Proto-Oncogene Proteins B-raf / genetics*
Reg. No./Substance:
EC protein, human; EC Proteins B-raf

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