2007
DOI: 10.1002/ajmg.a.31819
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Hepatoblastoma and heart transplantation in a patient with cardio‐facio‐cutaneous syndrome

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 mas… Show more

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Cited by 45 publications
(34 citation statements)
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“…2 None of our patients showed malignancy, and only a single patient with MEK1 mutation (Y130C) has been reported with a hepatoblastoma. 25 Consistent with this finding, no somatic mutation in MEK1 gene has been observed in hepatoblastoma or in any other solid tumors (http:// www.sanger.ac.uk/genetics/CGP/cosmic/). Similarly, the somatically acquired V600E amino acid substitution of BRAF occurs at high frequency in cancer, but it has not been observed among patients with CFCS.…”
Section: Discussionsupporting
confidence: 59%
“…2 None of our patients showed malignancy, and only a single patient with MEK1 mutation (Y130C) has been reported with a hepatoblastoma. 25 Consistent with this finding, no somatic mutation in MEK1 gene has been observed in hepatoblastoma or in any other solid tumors (http:// www.sanger.ac.uk/genetics/CGP/cosmic/). Similarly, the somatically acquired V600E amino acid substitution of BRAF occurs at high frequency in cancer, but it has not been observed among patients with CFCS.…”
Section: Discussionsupporting
confidence: 59%
“…One individual with CFC (BRAF mutation) had a hepatoblastoma, possibly the result of postcardiac transplant immunosuppression. 34 Additional studies are needed to accurately assess the risk of malignancy in CFC. 74 …”
Section: Hematology/oncology Conditionsmentioning
confidence: 99%
“…2,18 A CFC patient with a MEK1 mutation has been reported to have developed hepatoblastoma after cardiac transplantation. 19 To date, 104 CFC patients with BRAF mutations and 42 with CFC patients with MEK1/2 mutations have been reported. 15 The frequency of the association with malignant tumors cannot be neglected.…”
Section: Discussionmentioning
confidence: 99%