Myogenic Tumors in Nevoid Basal Cell Carcinoma Syndrome

Overview

Journal J Pediatr Hematol Oncol

Specialty Pediatrics

Date 2014 Feb 13

PMID 24517962

Citations 9

Authors

Simone Hettmer

Lisa A Teot

Harry Kozakewich

Annette M Werger

Kimberly J Davies

Christopher D M Fletcher

Holcombe E Grier

Carlos Rodriguez-Galindo

Amy J Wagers

Affiliations

Soon will be listed here.

Abstract

In mice, activated Hedgehog (Hh) signaling induces tumors with myogenic differentiation. In humans, hyperactive Hh signaling due to germline PATCHED1 (PTCH1) mutations has been linked to nevoid basal cell carcinoma syndrome (NBCCS). We report an embryonal rhabdomyosarcoma in a 16-month-old girl with NBCCS and review the literature on myogenic neoplasms in NBCCS, including 8 fetal rhabdomyomas and 3 rhabdomyosarcomas. Of note, 3 population studies, including 255 individuals with NBCCS aged 4 months to 87 years, did not identify any myogenic tumors. Thus, myogenic tumors in NBCCS are rare and include both rhabdomyosarcomas and fetal rhabdomyomas.

Citing Articles

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