Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome.
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.
Ohtake
Akira
A
Department of Pediatrics, Saitama Medical University, Moroyama, Saitama, Japan.
Aoki
Yoko
Y
Saito
Yuka
Y
Niihori
Tetsuya
T
Shibuya
Atsushi
A
Kure
Shigeo
S
Matsubara
Yoichi
Y
D002648:Child; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000235:genetics*; D019066:Facies; D005183:Failure to Thrive / Q000150:complications* / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000150:complications* / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008228:Lymphoma, Non-Hodgkin / Q000150:complications* / Q000235:genetics* / Q000628:therapy; D008297:Male; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*
C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf