卵巢Sertoli-Leydig细胞肿瘤(ovarian sertoli-leydig cell tumors,SLCTs)是罕见的卵巢性索 - 间质肿瘤，常伴有DICER1基因的胚系及体细胞突变，其突变率在不同的研究中差异较大(0%~62.5%)。目前的世界卫生组织(world health organization,WHO)分类将SLCTs组织学类型分为高分化、中分化及低分化3种，仅在中/低分化者中可出现异源性成分和/或网状结构。本文作者研究了38例初始诊断为SLCTs的卵巢肿瘤中DICER1的突变率，目的是进一步揭示DICER1基因突变是否与SLCTs中特定的形态学特征有关。所有病例由病理学专家在分子检测结果不知情的情况下重新阅片，34例被诊断为SLCTs(包括中分化22例、低分化8例及高分化4例)，而剩余4例没有被诊断为SLCTs。分子检测结果发现，34例被诊断为SLCTs中的30例(88%)具有DICER1基因的1个或多个位点突变，其中所有30例(100%)中分化或低分化SLCTs发现有DICER1基因突变，但所有4例高分化SLCTs没有发现有意义的DICER1突变。我们的研究是目前SLCTs中DICER1突变率最高的报道，且在中/低分化SLCTs中100%出现。这表明，DICER1突变可能是SLCTs的一个特定特征。虽然病例数量有限，但高分化SLCTs似乎与DICER1突变无关。中、低分化SLCTs成分常常共存并形成谱系，而高分化SLCTs通常以单一形态出现。这从根本上表明，它们代表2种独立的互不相关的肿瘤类型，且发病机制不同。因此，我们建议，所有卵巢SLCTs患者都要进行生殖细胞DICER1突变检测。
来源：Am J Surg Pathol 2017;41:1267–1274
美国外科病理学杂志中文版2017年第一期摘要No.4
（倪浩 翻译；郭凌川 审校）
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