What causes pediatric rhabdomyosarcoma (RMS)?

Updated: Mar 28, 2019
  • Author: Roshni Dasgupta, MD, MPH; Chief Editor: Eugene S Kim, MD, FACS, FAAP  more...
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The etiology of pediatric RMS is unknown; however, RMS has been associated with a p53 mutation and Li-Fraumeni syndrome. [19] Li-Fraumeni syndrome is a familial cancer syndrome that exhibits autosomal-dominant inheritance of a germline mutation of the p53 gene. [20] It is characterized by a high incidence of soft-tissue or bone sarcomas, leukemia, brain or adrenal neoplasms, and maternal premenopausal breast cancer.

RMS is also known to occur more commonly in patients with neurofibromatosis type I (NF1) and in patients with Beckwith-Wiedemann syndrome. Tumors associated with syndromes typically present earlier and have family histories of malignancy. [21]

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