What are the NCCN guidelines for genetic testing for soft tissue sarcoma (STS)?

Updated: Dec 03, 2020
  • Author: Steven C Katz, MD, FACS; Chief Editor: Edwin Choy, MD, PhD  more...
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While the overwhelming majority of STS cases are sporadic, rare cases involve a genetic predisposition. The National Comprehensive Cancer Network (NCCN) Soft Tissue Sarcoma Panel specifically identifies Li-Fraumeni syndrome and familial adenomatous polyposis (FAP) as genetic cancer syndromes with a predisposition for the development of STS, along with Carney-Stratakis syndrome, which is associated with gastrointestinal stromal tumors (GISTs) and paragangliomas. Patients with hereditary retinoblastoma and neurofibromatosis (NF1 and NF2) are also at increased risk of developing STS. NCCN recommendations for genetic testing include the following [1] :

  • Patients with a personal or family history of Li-Fraumeni syndrome or FAP should be considered for genetic testing and assessment

  • Patients diagnosed with desmoid tumors (aggressive fibromatoses) should be evaluated for family history of FAP or Gardner syndrome

  • In patients with GISTs lacking KIT or PDGFRA mutations, succinate dehydrogenase (SDH) gene mutational analysis should be considered; loss of SDHB protein expression by immunohistochemistry is a useful screen to identify patients who would be candidates for germline mutation testing, but it is not diagnostic of a germline mutation

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