Novel FGL2::PDGFD and TGFBI::PDGFB Fusions Expand the Molecular Spectrum of Dermatofibrosarcoma Protuberans

Résumé fourni par la source

Dermatofibrosarcoma protuberans (DFSP) is a locally aggressive fibroblastic neoplasm characterized by recurrent COL1A1::PDGFB fusions that drive autocrine PDGFR-β activation. Recent sequencing studies have revealed rare DFSPs with alternative noncanonical PDGFB or PDGFD rearrangements, underscoring the genetic diversity of PDGF-ligand activation in this tumor. Here, we describe two conventional DFSPs harboring previously unreported fusions: FGL2::PDGFD and TGFBI::PDGFB. In the first case, FGL2(ex1)::PDGFD(ex6) replaces the PDGFD N-terminal CUB domain with the FGL2 signal peptide, a configuration predicted to generate a constitutively active, secreted PDGFD ligand. In the second case, TGFBI(ex14)::PDGFB(ex3) juxtaposes PDGFB to the highly expressed extracellular matrix gene TGFBI, providing an alternative promoter context for PDGFB overexpression. Both cases showed classic DFSP morphology and diffuse CD34 expression. These findings expand the molecular landscape of DFSP and illustrate convergent mechanisms of PDGFR-β activation achieved through diverse yet functionally equivalent genomic rearrangements.

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