子宫内膜间质肉瘤(ESS)是一种罕见的子宫恶性肿瘤,需要准确的病理诊断才能进行适当的治疗。本研究旨在阐明ESS病理诊断的差异,并获得实用线索以提高诊断准确性。在2002年至2015年之间,148例低度ESS(LGESS)患者,高级ESS(HGESS),未分化子宫内膜肉瘤(UES),纳入31个机构诊断的未分化子宫肉瘤(UUS).我们做了免疫组织化学,JAZF1-SUZ12和YWHAE-NUTM2A/B的实时聚合酶链反应,JAZF1,PHF1和YWHAE的分裂荧光原位杂交。由6名病理学家进行中心病理学检查(CPR)。心肺复苏后,LGESS,HGESS,UES/UUS,在72、25、16和31例中证实了其他诊断,分别。在19.6%(18/92)的LGESS和34%(18/53)的HGESS或UUS/UES中观察到诊断差异。腺肉瘤,子宫内膜癌,癌肉瘤,平滑肌肉瘤是常见的诊断陷阱。JAZF1-SUZ12成绩单,PHF1分割信号,和YWHAE-NUTM2A/B转录本在23个LGESS中互斥检测,3LGESS,和1个LGESS加上3个HGESS,分别。JAZF1-SUZ12和YWHAE-NUTM2A/B转录仅在CPR诊断为LGESS或HGESS的病例中检测到。LGESS的CPR诊断,HGESS,UUS是一个重要的预言家,LGESS患者预后良好,而UUS患者的预后最差。ESS的病理诊断通常具有挑战性,应仔细考虑某些肿瘤。借助分子检测的准确病理诊断对于预后预测和治疗选择至关重要。
Endometrial stromal sarcoma (ESS) is a rare uterine malignancy that requires accurate pathological diagnosis for proper treatment. This
study aimed to clarify the discrepancies in the pathological diagnosis of ESS and obtain practical clues to improve diagnostic accuracy. Between 2002 and 2015, 148 patients with low-grade ESS (LGESS), high-grade ESS (HGESS), undifferentiated endometrial sarcoma (UES), or undifferentiated uterine sarcoma (UUS) diagnosed at 31 institutions were included. We performed immunohistochemistry, real-time polymerase chain reaction for JAZF1-SUZ12 and YWHAE-NUTM2A/B, and break-apart fluorescent in situ hybridization for JAZF1, PHF1, and YWHAE. Central pathology review (CPR) was performed by six pathologists. After CPR, LGESS, HGESS, UES/UUS, and other diagnoses were confirmed in 72, 25, 16, and 31 cases, respectively. Diagnostic discrepancies were observed in 19.6% (18/92) of LGESS and 34% (18/53) of HGESS or UUS/UES. Adenosarcomas, endometrial carcinomas, carcinosarcomas, and leiomyosarcomas were common diagnostic pitfalls. JAZF1-SUZ12 transcript, PHF1 split signal, and YWHAE-NUTM2A/B transcript were mutually exclusively detected in 23 LGESS, 3 LGESS, and 1 LGESS plus 3 HGESS, respectively. JAZF1-SUZ12 and YWHAE-NUTM2A/B transcripts were detected only in cases with CPR diagnosis of LGESS or HGESS. The CPR diagnosis of LGESS, HGESS, and UUS was a significant prognosticator, and patients with LGESS depicted a favorable prognosis, while those with UUS showed the worst prognosis. Pathological diagnosis of ESS is often challenging and certain tumors should be carefully considered. The accurate pathological diagnosis with the aid of molecular testing is essential for prognostic prediction and treatment selection.