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固体模式的质母细胞瘤具有FGFR2突变和不利的预后

Xiaoli Jia¹, NanNan Leng¹, Min Wang¹

¹Department of Oral Pathology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai.

The American journal of surgical pathology

|January 14, 2025

概括

质母细胞瘤 (SBL) 瘤表现出不同的固体和非固体模式. 固体SBL,通常具有FGFR2突变,具有高复发和转移的风险,与非固体类型不同.

科学领域:

在瘤学瘤学.
病理学病理学病理学
遗传学是一个遗传学.

背景情况:

母细胞瘤 (SBL) 是一种罕见的唾液腺瘤,具有有争议的组织学,遗传学和行为.
2022年世界卫生组织 (WHO) 分类将SBL定义为低级恶性瘤.

研究的目的:

进行SBLs的第一个全面的临床,组织学和分子分析.
为了更好地了解质母细胞瘤的发病和预后.

主要方法:

对8例SBL病例的临床,组织学和分子分析.
瘤分层成固体和非固体模式.
基因分析包括突变分析 (FGFR2,PALB2,AR,MAP2K1,HRAS) 和β-catenin评估.

主要成果:

固体SBL (5/8) 显示原始基质细胞,亡和FGFR2突变;所有都复发,有3个发展远程转移和2个死亡.
非固体SBLs (3/8) 呈现了类似于上皮-肌上皮癌 (EMC) 或类似于基底细胞腺瘤 (BCA) 的组织学,具有HRAS突变或β-catenin阳性;没有复发.
与非固体SBL相比,固体SBL的预后明显较差.

结论:

质母细胞瘤可以分为固体和非固体模式,具有不同的临床行为和遗传特征.
固体SBLs经常含有FGFR2突变,与复发和转移的风险增加有关.
基因和形态分析对预测SBL预后至关重要,指导临床管理.

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