Ramineni Madhurya, Armbuster Youngeun C, Katerji Hani, Huang Wei, McDowell Jamie L, Wang Xi
Department of Pathology, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, NY, 14642, USA.
Department of Obstetrics and Gynecology, University of Rochester Medical Center, Rochester, NY, USA.
Diagn Pathol. 2025 May 26;20(1):65. doi: 10.1186/s13000-025-01656-9.
MEIS1::NCOA1/2 fusions have been identified in spindle cell tumors of the gynecologic and genitourinary tracts, as well as in two cases of intraosseous spindle cell rhabdomyosarcomas. These tumors typically exhibit an infiltrative growth pattern characterized by short fascicles of monomorphic, plump spindle cells. Their immunoprofile is nonspecific, often demonstrating focal and variable expression of ER, PR, CD10, and cyclin D1. Depending on their location, these tumors are frequently diagnosed as low-grade endometrial stromal sarcomas or undifferentiated uterine or renal sarcomas. While they generally exhibit low malignant potential with multiple local recurrences, two cases with high-grade morphology and lung metastases have been reported. Here, we describe a case of pelvic low-grade spindle cell sarcoma in a 19-year-old woman characterized by strong diffuse ER/PR expression and focal CD10 positivity. Next-generation sequencing revealed a MEIS1::NCOA1 fusion without additional genetic alterations. She presented with extensive local disease throughout the abdomen, while the uterus and adnexa appeared normal intraoperatively.
MEIS1::NCOA1/2融合已在妇科和泌尿生殖道的梭形细胞肿瘤中被发现，以及在两例骨内梭形细胞横纹肌肉瘤中被发现。这些肿瘤通常表现为浸润性生长模式，其特征为单形性、饱满的梭形细胞短束状排列。它们的免疫表型是非特异性的，常显示雌激素受体（ER）、孕激素受体（PR）、CD10和细胞周期蛋白D1的局灶性和可变表达。根据其位置，这些肿瘤常被诊断为低级别子宫内膜间质肉瘤或未分化子宫或肾肉瘤。虽然它们一般具有低恶性潜能且有多次局部复发，但已有两例具有高级别形态学特征和肺转移的病例报道。在此，我们描述了一名19岁女性盆腔低级别梭形细胞肉瘤病例，其特征为ER/PR弥漫性强表达和CD10局灶性阳性。二代测序显示存在MEIS1::NCOA1融合，无其他基因改变。她表现为全腹广泛的局部病变，而术中子宫和附件外观正常。
