Uterine Tumor Resembling Ovarian Sex Cord Tumor: A Distinct Entity Characterized by Recurrent NCOA2/3 Gene Fusions.
Uterine Tumor Resembling Ovarian Sex Cord Tumor: A Distinct Entity Characterized by Recurrent NCOA2/3 Gene Fusions.
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DOI：
10.1097/pas.0000000000001153
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发表时间：
2019-03
期刊：
影响因子：
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通讯作者：
Antonescu CR
中科院分区：
文献类型：
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作者：
Dickson BC;Childs TJ;Colgan TJ;Sung YS;Swanson D;Zhang L;Antonescu CR
子宫性索肿瘤是一种罕见而独特的肿瘤，其组织发生机制不明确，恶性潜能不确定。这些肿瘤在形态上类似于卵巢性索间质瘤，具有多表型免疫表型。其分子发病机制尚未阐明；然而，值得注意的是，肿瘤缺乏其他具有性索样分化的子宫肿瘤（如子宫内膜间质肉瘤）所发现的改变。在通过rna测序鉴定出一名具有ESR1-NCOA3融合基因的患者后，我们对其他UTROSCT病例进行了回顾性研究。我们共确定了4例患者，平均年龄53岁（范围38-68岁）。对所有病例进行rna测序，发现2例存在ESR1-NCOA3融合，各1例存在ESR1-NCOA2和GREB1-NCOA2融合。在之前报道的UTROSCT谱中，每个肿瘤都表现出组织学和免疫表型特征；有趣的是，一个病例含有明显的纺锤体细胞束，另一个病例主要由小的圆形细胞片组成。我们的研究结果表明，UTROSCT是由涉及NCOA2或NCOA3的复发性融合所定义的，这一发现可直接用于诊断评估。这项研究证实了UTROSCT在分子上与子宫内膜间质肉瘤不同，但对这些肿瘤的发病机制以及与其他ncoa融合阳性子宫肿瘤的可能关系提出了有趣的新问题。
Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare and distinctive neoplasm of unclear histogenesis, and uncertain malignant potential. These neoplasms morphologically resemble sex-cord stromal tumors of the ovary, and possess a polyphenotypic immunophenotype. Their molecular pathogenesis has yet to be elucidated; notably, however, tumors lack alterations found in other uterine tumors bearing sex-cord-like differentiation, such as endometrial stromal sarcoma. Following identification of an index patient with an ESR1-NCOA3 fusion gene by RNA-Sequencing, we undertook a retrospective review for additional cases of UTROSCT. We identified a total of 4 patients, with an average age of 53 years (range, 38–68). RNA-Sequencing was performed in all cases, revealing an ESR1-NCOA3 fusion in 2 cases and one case each with related ESR1-NCOA2 and GREB1-NCOA2 fusions. Each of the tumors showed histologic and an immunophenotype features within the previously reported spectrum of UTROSCT; interestingly, one case contained prominent spindle cell fascicles and another was largely comprised of sheets of small round cells. Our results demonstrate UTROSCT are defined by recurrent fusions involving NCOA2 or NCOA3, a finding that is directly amenable to diagnostic evaluation. This study confirms UTROSCT is molecularly distinct from endometrial stromal sarcoma, but raises intriguing new questions into the pathogenesis of these neoplasms and possible relationship with other NCOA-fusion positive uterine tumors.