Abstract：
Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare mesenchymal neoplasm that was recently reported to exhibit recurrent NCOA1-3rearrangement with the most frequent partners ESR1 and GREB1. In this study, the clinicopathological characteristics of 17 UTROSCT cases were summarized; among them, the fusion genes of 12 cases were retrospectively analyzed by targeted RNA sequencing. The mean age of our cohort was 47 years (19-67 y). Although the majority of UTROSCTs had clear boundaries on gross examination, microscopic infiltration into the myometrium was observed in 82.4 % of cases. The tumor cells showed diffuse, trabecular, nested, reticular, pseudopapillary, hollow and solid tubular patterns, expressing sex cord, epithelial, and myogenic markers. Six fusion genes, including ESR1::NCOA3 (n = 4), ESR1::NCOA2 (n = 2), ESR1::CITED2 (n = 2), GREB1::NCOA2 (n = 2), GREB1::NCOA1 (n = 1), and GREB1::NCOA3 (n = 1), were identified. The fusion genes of the three cases with recurrence and metastasis were GREB1::NCOA2, ESR1::NCOA3, and ESR1::CITED2. All 3 cases of recurrent tumors showed infiltrative growth, with moderate to severe dysplasia of tumor cells and different degrees of rhabdomyoid differentiation. This is the first report of the ESR1::CITED2 fusion genes in UTROSCT, and one of the two patients had recurrence and metastasis. Compared with UTROSCT withESR1 rearrangement, UTROSCT with GREB1 rearrangement was more common in elderly patientsand was more likely to present with intramural masses, less sex cord differentiation, poor prognosis, and relapse and metastasis.
摘要：
类似于卵巢性索肿瘤（UTROSCT）的子宫肿瘤是一种罕见的间充质肿瘤，最近据报道与最常见的伴侣ESR1和GREB1表现出复发性NCOA1-3重排。在这项研究中,总结17例UTROSCT患者的临床病理特征,通过靶向RNA测序对12例患者的融合基因进行回顾性分析。我们队列的平均年龄为47岁（19-67岁）。尽管大多数UTROSCT在粗略检查上有明确的界限，在82.4%的病例中观察到显微浸润到子宫肌层。肿瘤细胞表现为弥漫性，小梁,嵌套，网状,假乳头,空心和实心管状图案，表达性索，上皮，和肌源性标记。六个融合基因,包括ESR1::NCOA3(n=4)，ESR1::NCOA2(n=2)，ESR1::CITED2(n=2)，GREB1::NCOA2(n=2),GREB1::NCOA1(n=1),和GREB1::NCOA3(n=1)，已确定。3例复发转移病例的融合基因分别为GREB1::NCOA2、ESR1::NCOA3和ESR1::CITED2。3例复发肿瘤均为浸润性生长,伴肿瘤细胞中度至重度异型增生和不同程度的横纹肌样分化。这是UTROSCT中ESR1::CITED2融合基因的首次报道，2例患者中有1例复发和转移。与具有ESR1重排的UTROSCT相比，UTROSCT伴GREB1重排在老年患者中更常见，更有可能出现壁内肿块，性索分化较少，预后不良,复发和转移。
