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具有RAD51B融合的肉瘤与异构的表型有关

Hsin-Yi Chang¹, Josephine Dermawan², Aarti Sharma³

¹Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

|December 23, 2023

概括

通过RAD51B重新排列的肉瘤是罕见的子宫和子宫外瘤. 这些侵袭性瘤具有不同的形态和融合伙伴,往往导致不良的临床结果.

科学领域:

在瘤学瘤学.
病理学病理学病理学
遗传学遗传学是一个

背景情况:

通过RAD51B重新排列的瘤是具有异质形态的罕见瘤.
以前报告的病例仅涉及子宫,包括周围血管上皮质细胞瘤 (PEComas) 和乳腺瘤 (LMS).

研究的目的:

描述RAD51B重新排列的额外瘤的形态学,免疫组织化学和分子特征.
包括第一个报告的子宫外这种类型的肉瘤的例子.

主要方法:

对8种额外的瘤进行了形态和免疫组织化学分析.
分子分析包括向RNA测序和光在位杂交 (FISH) 用于RAD51B重组.
针对TSC基因变异的向DNA测序.

主要成果:

另外还发现了8种具有RAD51B重组的瘤,其中包括一个子宫外病例.
瘤表现出多样化的形态 (状细胞,上皮细胞,未分化) 和高度的细胞性异型,具有高的线粒活性.
免疫组织化学显示了与PEComa或LMS一致的特征,或非特异性概况.
RNA测序确定了各种融合伙伴 (HMGA2,PDDC1,CEP170);FISH证实了RAD51B的重新排列.
临床结果显示了具有复发,转移和死亡的侵略性行为.

结论:

RAD51B融合定义了一种具有可变呈现,形态和融合伙伴的肉瘤谱.
这些瘤主要发生在子宫内,但也可能是子宫外的.
它们呈现为LMS,PEComa或未分化的表型,并与积极的临床过程有关.

关键词:

在PEComa中,我们可以使用PEComa.在RAD51B中,使用了RAD51B.融合融合融合融合融合融合融合融合融合融合雷奥米奥萨科马 (leiomyosarcoma) 是一种癌症.这是子宫,子宫.

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