Key result
A rare case of COL1A1-PDGFB fusion uterine sarcoma was identified after initially being mistaken for a uterine fibroid, highlighting the need for awareness of this emerging entity.
Why the study?
COL1A1-PDGFB gene fusion uterine sarcoma is a rare, recently described entity with only 4 previously reported cases, and its clinicopathologic characteristics are yet to be established.
Case Report (n=1)
This case report adds to the limited literature on COL1A1-PDGFB fusion uterine sarcoma, aiding in the characterization of this rare entity.
Alerts clinicians to rare sarcomas mimicking fibroids; leaves open prevalence, diagnostics, and targeted therapies.
COL1A1-PDGFB gene fusion uterine sarcoma is a recently described entity which shows some overlapping features with dermatofibrosarcoma protuberans. To date, only 4 cases have been reported in the literature. Due to its rarity, succinct clinicopathologic characteristics are yet to be established. We report a fifth case initially mistaken as a uterine fibroid which histologically proved to be a CD34 + high-grade spindle cell proliferation which on fluorescence in situ hybridization analysis displayed COL1A1-PDGFB gene rearrangement. With this case description we hope to raise awareness and aid in the characterization of this emerging entity.
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Hogeboom et al. (2022) conducted a case report in COL1A1-PDGFB fusion uterine sarcoma (n=1). COL1A1-PDGFB fusion uterine sarcoma was evaluated. A rare case of COL1A1-PDGFB fusion uterine sarcoma was identified after initially being mistaken for a uterine fibroid, highlighting the need for awareness of this emerging entity.
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