New hepatoblastomas study findings have been reported by scientists at National Institutes of Health
2007 OCT 15 -- "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," scientists in the United States report. "We report on a 3-year-old boy who underwent a cardiac transplant at age 8 months for hypertrophic cardiomyopathy; lie 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 in 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 limitation (Y130C) previously reported in CFC," wrote M.M. Alrahawan and colleagues, National Institutes of Health. The researchers concluded: "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." Alrahawan and colleagues published their study in American Journal of Medical Genetics Part a (Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. American Journal of Medical Genetics Part a, 2007;143A(13):1481-1488). For additional information, contact M.M. Alrahawan, National Institutes of Health, Dept. of Health & Human Service, 6120 Execut Blvd., EPS Rm 7013, Rockville, MD 20852, USA. The publisher's contact information for the American Journal of Medical Genetics Part a is: Wiley-Liss, Division John Wiley & Sons Inc., 111 River St., Hoboken, NJ 07030, USA. Keywords: United States, Rockville, Hepatoblastomas, Blastoma, Cardio-Facio-Cutaneous Syndrome, Cardiology, Costello Syndrome, Genetics, Heart Transplant, Hepatoblastoma, Oncology, Organ Transplant, National Institutes of Health. This article was prepared by Cardiovascular Week editors from staff and other reports. Copyright 2007, Cardiovascular Week via NewsRx.com.
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