CTNNB1 mutations or APC abnormalities have been observed in ~85% of desmoids examined by Sanger sequencing and are associated with Wnt/β-catenin activation. We sought to identify molecular aberrations in 'wild-type' tumors (those without CTNNB1 or APC alteration) and to determine their prognostic relevance. CTNNB1 was examined by Sanger sequencing in 117 desmoids; a mutation was observed in 101 (86%) and 16 were 'wild-type'. 'Wild-type' status did not associate with tumor recurrence. Moreover, in unsupervised clustering based on U133A-derived gene expression profiles, 'wild-type' and mutated tumors clustered together. Wholeexome sequencing of eight of the 'wild-type' desmoids revealed that three had a CTNNB1 mutation that had been undetected by Sanger sequencing. The mutation was found in a mean 16% of reads (vs 37% for mutations identified by Sanger). Of the other five 'wild-type' tumors sequenced, two had APC loss, two had chromosome 6 loss, and one had mutation of BMI1. The finding of low-frequency CTNNB1 mutation or APC loss in 'wild-type' desmoids was validated in the remaining eight 'wild-type' desmoids; directed miSeq identified low-frequency CTNNB1 mutation in four and comparative genomic hybridization identified APC loss in one. These results
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Soft tissue sarcomas of the trunk are rare lesions, generally managed using an algorithm similar to that employed for extremity sarcomas. This review summarizes the standard treatment of truncal sarcomas and considers how these recommendations differ for each of the various common histologic subtypes observed on the trunk: desmoid, dermatofibrosarcoma protuberans (DFSP), and angiosarcoma.
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