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J Pediatr Hematol Oncol. 2015 Mar;37(2):147-9. doi: 10.1097/MPH.0000000000000115.

Myogenic tumors in nevoid Basal cell carcinoma syndrome.

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1
*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.

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.

PMID:
24517962
PMCID:
PMC4127382
DOI:
10.1097/MPH.0000000000000115
[Indexed for MEDLINE]
Free PMC Article
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