NGS testing for desmoid tumors – pro
Desmoid tumors (also called aggressive fibromatosis, deep musculoaponeurotic fibromatosis, and fibrosarcoma grade I of the desmoid type) are locally aggressive tumors with no known potential for metastasis or dedifferentiation. However, tumor invasion into vital structures and/or organs can result in substantial morbidity and may be fatal. Local control using surgery and radiation has traditionally been the mainstay of therapy for these tumors but some desmoid tumors may not be resectable and for them, systemic therapy is recommended. NCCN on p/ SARC-E,1 lists Sulindac or other nonsteroidals, tamoxifen or toremafine, methotrexate and vinblastine, low dose interferon, doxorubicin based regimens and imatinib. Sorafenib has been reported by Gounder et al to be effective.
unfortunately, being a rare tumor, there are only case reports on NGS testing and whether it is beneficial. AHmed in 2021 says that it should be cautiously evaluated.
Lee JM, Kim HG, Shin SY, Lee SH. Clinical application of next-generation sequencing for the management of desmoid tumors: A case report and literature review. Medicine (Baltimore). 2021;100(1):e24238. doi:10.1097/MD.0000000000024238
A.A.AHmed et al, Nect-generationsequencing in diagnosis fo rare pediatric tumors, Ear Nose Throat Jour, 2021, https://journals.sagepub.com/doi/full/10.1177/0145561319863371