Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York.
Int J Gynecol Pathol. 2021 Jan;40(1):24-27. doi: 10.1097/PGP.0000000000000702.
NTRK fusion-positive uterine sarcoma is a recently recognized mesenchymal tumor that is defined by its morphologic resemblance to soft tissue fibrosarcoma, NTRK gene rearrangements, and potential response to Trk inhibition. Reported lesions affect premenopausal women with a median age of 32 yr, and most arise in the uterine cervix. Haphazard, storiform, or herringbone patterns of spindle cells with mild to moderate nuclear atypia are characteristic. SMA, CD34, and S100 are variably positive, but tumors are negative for desmin, ER, PR, and SOX10 and retain H3K27me3 expression. While pan-Trk immunohistochemistry is positive in these tumors, it has decreased sensitivity and specificity in the evaluation of sarcomas in general and the detection of NTRK3 rearrangements. A variety of molecular methods such as fluorescence in situ hybridization and next-generation sequencing may be useful in confirming NTRK fusion in fibrosarcoma-like uterine sarcomas.
NTRK 融合阳性子宫肉瘤是一种最近被认识的间叶性肿瘤,其形态学类似于软组织纤维肉瘤,存在 NTRK 基因重排,并可能对 Trk 抑制有反应。报道的病变影响绝经前妇女,中位年龄为 32 岁,大多数发生在子宫颈。具有轻度至中度核异型性的纺锤形细胞呈杂乱、席纹或人字形排列是其特征。SMA、CD34 和 S100 不同程度阳性,但肿瘤阴性表达 desmin、ER、PR 和 SOX10,并保留 H3K27me3 的表达。虽然这些肿瘤中 pan-Trk 免疫组化阳性,但在评估肉瘤时一般具有较低的敏感性和特异性,并且不能检测到 NTRK3 重排。各种分子方法,如荧光原位杂交和下一代测序,可能有助于确认纤维肉瘤样子宫肉瘤中的 NTRK 融合。