Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Mod Pathol. 2013 Jan;26(1):95-105. doi: 10.1038/modpathol.2012.136. Epub 2012 Aug 24.
The current World Health Organization classification divides endometrial sarcomas into low-grade endometrial stromal sarcoma and undifferentiated endometrial sarcoma. Recent studies suggest undifferentiated endometrial sarcoma is a heterogeneous group and a subgroup with uniform nuclei is more akin to low-grade endometrial stromal sarcoma in terms of morphologic, immunohistochemical and genetic features. We classified endometrial sarcomas treated at our institution from 1998 to 2011 into low-grade endometrial stromal sarcoma and undifferentiated endometrial sarcoma, the latter being further categorized into a group with either uniform or pleomorphic nuclei. Morphological features, immunoprofile and fluorescence in situ hybridization rearrangements of JAZF1 and PHF1 genes were correlated with tumor category and outcome. A total of 40 cases were evaluated comprising 23 low-grade endometrial stromal sarcomas, 10 undifferentiated endometrial sarcomas with nuclear uniformity and 7 undifferentiated endometrial sarcomas with nuclear pleomorphism. Low-grade endometrial stromal sarcomas were more often estrogen and progesterone receptor positive (83%) compared with undifferentiated endometrial sarcoma with nuclear uniformity (10%) or with nuclear pleomorphism (0%) (P<0.001). Positivity for p53 was restricted to undifferentiated endometrial sarcomas with more frequent expression in the group with nuclear pleomorphism (57%) than with nuclear uniformity (10%) (P=0.06). Ki-67 proliferation index in >10% of tumor cells more frequent in undifferentiated endometrial sarcoma than low-grade endometrial stromal sarcoma (P=<0.001). JAZF1 rearrangement was detected in 32% of low-grade endometrial stromal sarcomas and in none of the undifferentiated sarcomas. Rearrangement of PHF1 was found in two patients, one with JAZF1-PHF1 fusion. There were no significant differences in clinical behavior between undifferentiated endometrial sarcoma with nuclear uniformity versus nuclear pleomorphism. In conclusion, we found undifferentiated endometrial sarcoma subtypes and low-grade endometrial stromal sarcoma have distinct immunohistochemical and cytogentic profiles. Our data do not show any difference in clinical behavior between subgroups in undifferentiated sarcomas.
目前世界卫生组织的分类将子宫内膜肉瘤分为低级别子宫内膜间质肉瘤和未分化子宫内膜肉瘤。最近的研究表明，未分化子宫内膜肉瘤是一个异质性群体，其中具有均匀核的亚组在形态学、免疫组织化学和遗传学特征方面更类似于低级别子宫内膜间质肉瘤。我们将我院 1998 年至 2011 年治疗的子宫内膜肉瘤分为低级别子宫内膜间质肉瘤和未分化子宫内膜肉瘤，后者进一步分为具有均匀核或多形性核的两组。形态学特征、免疫表型和 JAZF1 和 PHF1 基因的荧光原位杂交重排与肿瘤类别和预后相关。共评估了 40 例病例，包括 23 例低级别子宫内膜间质肉瘤、10 例核均匀性未分化子宫内膜肉瘤和 7 例核多形性未分化子宫内膜肉瘤。低级别子宫内膜间质肉瘤雌激素和孕激素受体阳性（83%）的比例高于核均匀性未分化子宫内膜肉瘤（10%）或核多形性未分化子宫内膜肉瘤（0%）（P<0.001）。p53 阳性仅限于核多形性未分化子宫内膜肉瘤，其在核多形性组中的表达频率高于核均匀性组（57%比 10%）（P=0.06）。Ki-67 增殖指数>10%的肿瘤细胞在未分化子宫内膜肉瘤中比在低级别子宫内膜间质肉瘤中更常见（P<0.001）。JAZF1 重排在 32%的低级别子宫内膜间质肉瘤中检测到，而在未分化肉瘤中均未检测到。PHF1 重排发生在 2 例患者中，其中 1 例存在 JAZF1-PHF1 融合。核均匀性与核多形性未分化子宫内膜肉瘤的临床行为无显著差异。总之，我们发现未分化子宫内膜肉瘤亚型和低级别子宫内膜间质肉瘤具有不同的免疫组织化学和细胞遗传学特征。我们的数据显示，未分化肉瘤亚组之间的临床行为没有差异。
