Mejbel Haider A, Harada Shuko, Stevens Todd M, Huang Xiao, Netto George J, Mackinnon Alexander C, Al Diffalha Sameer
Division of Genomics Diagnostics and Bioinformatics, Molecular Genetics Pathology, 9968The University of Alabama at Birmingham, Birmingham, AL, USA.
Department of Pathology, Division of Anatomic Pathology, 9968The University of Alabama at Birmingham, Birmingham, AL, USA.
Int J Surg Pathol. 2023 Apr;31(2):227-232. doi: 10.1177/10668969221098081. Epub 2022 Apr 28.
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, 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 fusion as the most commonly detected fusion gene, whereas the fusion gene has been reported in only a single case that involved kidney. Herein we report the first case of uterine sarcoma harboring the 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.
肉瘤是一组新认识的极为罕见的低级别梭形细胞肉瘤，常累及泌尿生殖道和妇科系统。由于其看似低级别形态以及非特异性免疫表型，这些肿瘤在组织学上可能通过模仿其他实体瘤（如子宫内膜间质肉瘤、平滑肌瘤或子宫血管周上皮样细胞肿瘤（PEComa））而带来诊断挑战。组织学上，肉瘤通常表现为梭形细胞增生，核深染，细胞形态普遍一致，排列成短束状，呈现细胞稀疏和密集交替的区域。在先前报道的病例中，分子分析显示 融合是最常检测到的融合基因，而 融合基因仅在1例累及肾脏的病例中被报道。在此，我们报告首例携带 融合基因的子宫肉瘤病例，该病例最初被误诊为低级别子宫内膜间质肉瘤，展示了其临床病理特征，并强调了分子病理学在做出准确诊断中的重要作用，这可能会改变疾病分类并为治疗提供依据。
