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性带状瘤中的FOXL2突变状态不能通过形态学预测

Sandra Wessman, Beatriz Bohorquez Fuentes, Josefin Severin-Karlsson

International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists

|May 31, 2023

概括

诊断卵巢性带瘤 (SCSTs) 是一个挑战. 建议对分叉盒L2 (FOXL2) 突变进行分子分析,因为单独的形态特征对于识别这些瘤是不可靠的.

科学领域:

妇科病理学的病理学.
分子瘤学分子瘤学
瘤发生的起源

背景情况:

颗粒细胞瘤 (GCTs) 是最常见的恶性卵巢性带瘤 (SCSTs).
由于重叠的形态特征,SCSTs的组织病理学诊断可能具有挑战性.
在成年GCT中发现了一种复发的FOXL2基因突变 (C134W).

研究的目的:

评估FOXL2 C134W突变分析在诊断SCST中的有用性.
为了将FOXL2 C134W突变状态与瘤形态和临床结果相关联.
调查TERT促进子突变在SCST中的作用.

主要方法:

44例SCST病例的回顾性单中心研究.
形态学审查和FOXL2 C134W突变分析.
在一小部分病例中进行了TERT促进物突变测试.

主要成果:

仅仅通过形态检查,在36个病例中,有12个病例导致了诊断变化.
FOXL2 C134W突变状态与细胞质颜色和核形状有一定的相关性,但不显著.
在19个病例中,TERT促进子突变在3个病例中被确定 (2个成年GCT,1个细胞纤维瘤).
在3名患者中观察到复发;2名FOXL2 C134W阳性成年GCT和1名未分类的SCST.

结论:

单独的形态和免疫组织化学特征不足以进行可靠的SCST诊断.
建议对FOXL2 C134W突变进行广泛的分子分析,用于SCST诊断.
需要对SCSTs中FOXL2和TERT促进子突变的临床影响进行进一步研究.

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