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子宫内膜高级别子宫内膜样癌伴 GATA-3 阳性/PAX8 阴性免疫表型转移至乳腺:潜在的诊断陷阱。

High-Grade Endometrioid Carcinoma of the Endometrium With a GATA-3-Positive/PAX8-Negative Immunophenotype Metastatic to the Breast: A Potential Diagnostic Pitfall.

机构信息

University of California San Diego, La Jolla, CA, USA.

出版信息

Int J Surg Pathol. 2020 Sep;28(6):631-636. doi: 10.1177/1066896920913114. Epub 2020 Mar 19.

Abstract

This report describes clinicopathologic findings from the case of a patient with a breast mass that was ultimately diagnosed as a metastatic high-grade endometrioid carcinoma of endometrial origin. The breast lesion as well as the solid areas of the endometrial lesion displayed a similar immunoprofile: GATA3-positive; synaptophysin positive; negative for mammaglobin, gross cystic disease fluid protein-15, chromogranin, estrogen receptor, progesterone receptor, and HER2/neu; and intact expression of the DNA mismatch repair proteins MLH1, MSH2, MSH6, and PMS2. The breast lesion was negative for PAX-8, whereas the solid areas of the endometrial lesion showed focal weak positivity. A review of the literature on GATA-3 expression in endometrial carcinomas found a reported frequency of expression that ranged from 0% to 13% of cases, typically in a patchy, focal, and generally restricted pattern. However, GATA-3 may be diffusely expressed in high-grade endometrial carcinomas. Since the potential for PAX-8 expression to be lost in high-grade endometrioid carcinomas is well known, a GATA-3-positive/PAX8-negative immunoprofile may be encountered in high-grade endometrioid carcinomas of the endometrium, and this composite immunoprofile is a potential diagnostic pitfall when such a lesion is being evaluated in a breast metastasis.

摘要

本报告描述了一例乳腺肿块患者的临床病理发现,最终诊断为源自子宫内膜的转移性高级别子宫内膜样癌。乳腺病变以及子宫内膜病变的实性区域表现出相似的免疫表型:GATA3 阳性;突触素阳性;乳腺球蛋白、巨大囊性疾病液体蛋白 15、嗜铬粒蛋白、雌激素受体、孕激素受体和 HER2/neu 阴性;错配修复蛋白 MLH1、MSH2、MSH6 和 PMS2 的表达完整。乳腺病变对 PAX-8 呈阴性,而子宫内膜病变的实性区域呈局灶性弱阳性。对 GATA-3 在子宫内膜癌中表达的文献复习发现,其表达频率报告范围为 0%至 13%,通常呈斑片状、局灶性和普遍受限的模式。然而,GATA-3 可能在高级别子宫内膜癌中弥漫表达。由于 PAX-8 表达在高级别子宫内膜样癌中丢失的可能性众所周知,在子宫内膜的高级别子宫内膜样癌中可能会遇到 GATA-3 阳性/PAX8 阴性的免疫表型,当在乳腺转移中评估这种病变时,这种复合免疫表型是一个潜在的诊断陷阱。

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