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Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Am+J+Med+Genet+A 2007 ; 143A (13): 1481-8 Nephropedia Template TP
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Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome #MMPMID17567882
Al-Rahawan MM; Chute DJ; Sol-Church K; Gripp KW; Stabley DL; McDaniel NL; Wilson WG; Waldron PE
Am J Med Genet A 2007[Jul]; 143A (13): 1481-8 PMID17567882show ga
Cardio-facio-cutaneous syndrome (CFC) and Costello syndrome (CS) are disorders with an overlapping spectrum of congenital anomalies. Mutations in the RAS-MAPK pathway have recently been reported in both of these syndromes, with HRAS mutations characteristic for CS and BRAF and MEK1/2 mutations for CFC. We report on a 3-year-old boy who underwent a cardiac transplant at age 8 months for hypertrophic cardiomyopathy; he was subsequently suspected to have CS. At age 35 months he presented with an intra-cardiac mass that was diagnosed as metastatic hepatoblastoma. Although hepatoblastoma is not known to have an increased frequency in immunocompromised patients, questions were raised as whether the post-transplant immuno-suppressive therapy played a role in tumor development. The patient died shortly thereafter and his post-mortem DNA analysis revealed a MEK1 mutation (Y130C) previously reported in CFC. While CS is associated with increased cancer risk, only a single case of leukemia has been reported in a patient with CFC, making this the first case of a solid tumor reported in a patient with CFC.
Am+J+Med+Genet+A 2007 ; 143A (13): 1481-8
