类似卵巢性索肿瘤的子宫肿瘤 一种以复现性NCOA2/3基因融合为特征的类型

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  类似卵巢性索肿瘤的子宫肿瘤(uterine tumor resembling ovarian sex-cord tumor,UTROSCT)是一种罕见且独特的肿瘤,其组织起源不明,具有不确定的恶性潜能。这些肿瘤在形态学上类似于卵巢的性索间质肿瘤,并拥有多种免疫表型。其分子发病机制仍尚未阐明;然而值得注意的是,该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)发生的改变。在通过RNA测序证实1位携带ESR1-NCOA3融合基因的特定患者后,我们对其他UTROSCT病例进行了回顾性研究。我们共确定4例患者,平均年龄为53岁(范围,38~68岁)。对所有病例进行RNA测序,发现2例携带ESR1-NCOA3融合,携带ESR1-NCOA2融合和GREB1-NCOA2融合各1例。每例肿瘤呈现的组织学和免疫表型特征都符合既往报道的UTROSCT范畴;有趣的是,其中1例含有显著的梭形细胞束,另1例主要由片状的小圆细胞组成。我们的研究结果表明,UTROSCT可以通过含有NCOA2或NCOA3的复现性融合来界定,这一发现可直接用于诊断评估。本研究证实,UTROSCT在遗传学上不同于子宫内膜间质肉瘤,同时为这些肿瘤的发病机制以及与其他具有NCOA融合子宫肿瘤的可能关系提出了令人感兴趣的新问题。
  Am J Surg Pathol 2019;43:178–186
  美国外科病理学杂志中文版2019年第三期摘要NO.4
  (韩铭 翻译  张静 审校)
  The American Journal of Surgical Pathology中文版声明:
  ©2018 Wolters Kluwer Health
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