Department of Diagnostic Pathology, National Cancer Center Hospital, Tokyo, 104-0045, Japan.
Department of Gynecology, Niigata Cancer Center Hospital, Kawagishicho, Niigata, 951-8566, Japan.
Hum Pathol. 2022 Jun;124:24-35. doi: 10.1016/j.humpath.2022.03.007. Epub 2022 Mar 24.
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.
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 的病理诊断差异，并获得提高诊断准确性的实用线索。在 2002 年至 2015 年间，我们纳入了 31 家机构诊断的 148 例低级别子宫内膜间质肉瘤（LGESS）、高级别子宫内膜间质肉瘤（HGESS）、未分化子宫内膜肉瘤（UES）或未分化子宫肉瘤（UUS）患者。我们进行了免疫组化、JAZF1-SUZ12 和 YWHAE-NUTM2A/B 的实时聚合酶链反应以及 JAZF1、PHF1 和 YWHAE 的断裂分离荧光原位杂交。由 6 位病理学家进行中心病理复查（CPR）。CPR 后，分别确诊 LGESS、HGESS、UES/UUS 和其他诊断 72、25、16 和 31 例。LGESS 和 HGESS 或 UUS/UES 的诊断差异分别为 19.6%（18/92）和 34%（18/53）。常见的诊断陷阱包括腺肉瘤、子宫内膜癌、癌肉瘤和平滑肌肉瘤。JAZF1-SUZ12 转录本、PHF1 分裂信号和 YWHAE-NUTM2A/B 转录本分别在 23 例 LGESS、3 例 LGESS 和 1 例 LGESS 加 3 例 HGESS 中相互排斥检测到。JAZF1-SUZ12 和 YWHAE-NUTM2A/B 转录本仅在经 CPR 诊断为 LGESS 或 HGESS 的病例中检测到。LGESS、HGESS 和 UUS 的 CPR 诊断是显著的预后预测因素，LGESS 患者预后良好，而 UUS 患者预后最差。ESS 的病理诊断通常具有挑战性，某些肿瘤应仔细考虑。借助分子检测进行准确的病理诊断对于预测预后和选择治疗至关重要。
