期刊
INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY
卷 31, 期 2, 页码 227-232出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/10668969221098081
关键词
MEIS1; NCOA1; fusion gene; spindle cell sarcoma; endometrial stromal sarcoma
MEIS1::NCOA1/2 sarcomas are rare low-grade tumors that often affect the genitourinary and gynecologic tracts. They can be diagnostically challenging due to their similarity to other entities, but molecular pathology plays a crucial role in arriving at an accurate diagnosis.
MEIS1::NCOA1/2 sarcomas are a newly recognized group of exceedingly rare low-grade spindle cell sarcomas that often involve the genitourinary and gynecologic tracts. Due to its deceptively low-grade morphology and the non-specific immunoprofile, these neoplasms may pose a diagnostic challenge by histologically mimicking other entities such as endometrial stromal sarcoma, smooth muscle tumor, or uterine perivascular epithelioid cell tumor (PEComa). Histologically, MEIS1::NCOA1/2 sarcomas typically show spindle cell proliferation with hyperchromatic nuclei and a generalized cytologic uniformity, arranged in short fascicles and exhibiting alternating zones of hypo- and hypercellularity. Among the previously reported cases, molecular analysis revealed the MEIS1::NCOA2 fusion as the most commonly detected fusion gene, whereas the MEIS1::NCOA1 fusion gene has been reported in only a single case that involved kidney. Herein we report the first case of uterine sarcoma harboring the MEIS1::NCOA1 fusion gene that was initially misclassified as low-grade endometrial stromal sarcoma, demonstrating its clinicopathologic features, and highlighting the essential role of molecular pathology to arrive at the accurate diagnosis that may alter disease classification and inform therapy.
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