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10.1097/MPH.0b013e3181df5e5b

http://scihub22266oqcxt.onion/10.1097/MPH.0b013e3181df5e5b
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20523244!ä!20523244

suck abstract from ncbi


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pmid20523244      J+Pediatr+Hematol+Oncol 2011 ; 33 (8): e342-6
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  • Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome #MMPMID20523244
  • Ohtake A; Aoki Y; Saito Y; Niihori T; Shibuya A; Kure S; Matsubara Y
  • J Pediatr Hematol Oncol 2011[Dec]; 33 (8): e342-6 PMID20523244show ga
  • 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.
  • |Child[MESH]
  • |Ectodermal Dysplasia/*complications/*genetics[MESH]
  • |Facies[MESH]
  • |Failure to Thrive/*complications/*genetics[MESH]
  • |Heart Defects, Congenital/*complications/*genetics[MESH]
  • |Humans[MESH]
  • |Intellectual Disability/complications/genetics[MESH]
  • |Lymphoma, Non-Hodgkin/*complications/*genetics/therapy[MESH]
  • |Male[MESH]


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