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Case Reports
. 2007 Jul 1;143A(13):1481-8.
doi: 10.1002/ajmg.a.31819.

Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome

Mohamad M Al-Rahawan  1 , Deborah J Chute, Katia Sol-Church, Karen W Gripp, Deborah L Stabley, Nancy L McDaniel, William G Wilson, Peter E Waldron
Affiliations
Case Reports

Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome

Mohamad M Al-Rahawan et al. Am J Med Genet A. .

Abstract

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.

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