Unusual morphologic features in molecularly defined high-grade sarcomas of the uterus.
Khadijah Abdulhaleem, Allen W Zhang, Tony Ng et al.
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Case in brief
This report details two cases of high-grade uterine sarcomas with unique genetic alterations. One case featured an FGFR1::TACC1 fusion and exhibited an atypical epithelioid morphology, while the other had an ACOT7::ERBB4 fusion with spindle cell morphology and osteosarcomatous differentiation. Both cases showed aggressive clinical behavior, with rapid disease progression and metastasis, highlighting the importance of molecular testing for accurate diagnosis.
What made this case unusual
The first case presented an epithelioid morphology not previously documented in association with the FGFR1::TACC1 fusion, and both cases were negative for key immunohistochemical markers.
Diagnostic / clinical pearl
Molecular testing is crucial for diagnosing high-grade uterine sarcomas with unusual morphologies, especially when immunohistochemical results are limited.
Why it matters
These cases illustrate the expanding histologic and molecular diversity of uterine mesenchymal neoplasms, emphasizing the need for awareness of atypical presentations to guide treatment decisions.