title: Myogenic tumors in nevoid Basal cell carcinoma syndrome.
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.
authors: *Department of Pediatric Oncology, Dana-Farber Cancer Institute †Division of Pediatric Hematology/Oncology, Boston Children's Hospital ¶Department of Pathology, Boston Children's Hospital ‡Howard Hughes Medical Institute §Department of Stem Cell and Regenerative Biology, Harvard Stem Cell Institute, Harvard University ∥Joslin Diabetes Center #Department of Pathology, Brigham and Women's Hospital, Boston, MA.
authors: Simone
authors: S
authors: Hettmer
authors: Lisa A
authors: LA
authors: Teot
authors: Harry
authors: H
authors: Kozakewich
authors: Annette M
authors: AM
authors: Werger
authors: Kimberly J
authors: KJ
authors: Davies
authors: Christopher D M
authors: CD
authors: Fletcher
authors: Holcombe E
authors: HE
authors: Grier
authors: Carlos
authors: C
authors: Rodriguez-Galindo
authors: Amy J
authors: AJ
authors: Wagers
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation / Q000235:genetics*; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011379:Prognosis; D011956:Receptors, Cell Surface / Q000235:genetics*; D012196:Review Literature as Topic; D012208:Rhabdomyosarcoma / Q000175:diagnosis* / Q000209:etiology
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; C000606240:Ptch1 protein, mouse; D011956:Receptors, Cell Surface