Aisagbonhi Omonigho, Harrison Beth, Zhao Liena, Osgood Rebecca, Chebib Ivan, Oliva Esther
Department of Pathology, Massachusetts General Hospital (O.A., R.O., I.C., E.O.) Department of Pathology, Brigham and Women's Hospital (B.H.), Boston, Massachusetts Alberta Health Services, Edmonton, Alberta, Canada (L.Z.).
Int J Gynecol Pathol. 2018 Sep;37(5):441-447. doi: 10.1097/PGP.0000000000000451.
Low and high-grade endometrial stromal sarcomas (ESS) can be distinguished on a morphologic basis. Low-grade ESS is composed of oval cells that resemble normal proliferative-phase endometrial stroma, while the well-known high-grade ESS is composed of round cells growing in nests separated by delicate sinusoidal vasculature. Recurrent JAZF1 rearrangements have been reported to be most frequent in low-grade stromal sarcomas (up to 60%), while YWHAE rearrangements are characteristic of high-grade ESS. Herein, we report a case of a 45-yr-old woman with stage IA typical low-grade ESS who developed multiple abdominopelvic recurrences and lung metastases 15 mo after her primary tumor was resected. The unusual morphology (without high-grade areas) as well as the aggressive behavior of the tumor prompted molecular testing which showed YWHAE rearrangement in her abdominopelvic recurrence and her primary tumor. Five years after her primary tumor was resected, she developed scalp metastases with a typical morphology of a high-grade ESS associated with t(10;17) and died of her disease. Our case highlights the potential value of molecular testing in all low-grade ESS at time of initial diagnosis to stratify patients at higher risk for developing high-grade ESS with the goal of offering closer follow-up for early detection and treatment if transformation occurs.
低级别和高级别子宫内膜间质肉瘤（ESS）可在形态学基础上进行区分。低级别ESS由类似于正常增殖期子宫内膜间质的椭圆形细胞组成，而众所周知的高级别ESS则由呈巢状生长的圆形细胞组成，巢之间有纤细的窦状脉管系统分隔。据报道，复发性JAZF1重排在低级别间质肉瘤中最为常见（高达60%），而YWHAE重排是高级别ESS的特征。在此，我们报告一例45岁患有IA期典型低级别ESS的女性病例，其在原发性肿瘤切除后15个月出现多发腹盆腔复发和肺转移。肿瘤不寻常的形态（无高级别区域）以及侵袭性行为促使进行分子检测，结果显示其腹盆腔复发灶和原发性肿瘤存在YWHAE重排。原发性肿瘤切除五年后，她出现头皮转移，具有高级别ESS的典型形态，伴有t(10;17)，最终死于该疾病。我们的病例强调了在所有低级别ESS初始诊断时进行分子检测的潜在价值，以便对发生高级别ESS风险较高的患者进行分层，目标是在发生转化时提供更密切的随访以便早期发现和治疗。
