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Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2007 Jul 01; Vol. 143A (13), pp. 1481-8. - Publication Year :
- 2007
-
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.<br /> ((c) 2007 Wiley-Liss, Inc.)
- Subjects :
- Child, Preschool
Fatal Outcome
Heart Defects, Congenital genetics
Heart Defects, Congenital surgery
Hepatoblastoma pathology
Humans
Liver Neoplasms pathology
MAP Kinase Kinase 1 genetics
Male
Mutation
Skin Abnormalities genetics
Syndrome
Abnormalities, Multiple diagnosis
Abnormalities, Multiple genetics
Abnormalities, Multiple pathology
Face abnormalities
Heart Defects, Congenital complications
Heart Transplantation
Hepatoblastoma etiology
Liver Neoplasms etiology
Skin Abnormalities complications
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4825
- Volume :
- 143A
- Issue :
- 13
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 17567882
- Full Text :
- https://doi.org/10.1002/ajmg.a.31819