在蛋白质综合征中表征副瘤新生体
Andres Matoso1,2,3, Russell Vang1,4, Deyin Xing1,2
1Departments of Pathology.
The American journal of surgical pathology
|December 10, 2025
概括
蛋白质综合征患者患上副瘤的风险很高,这些瘤往往是Müllerian起源的,并且与AKT1基因变异相关. 这些瘤可能会复发并表现出异常组织学,需要仔细监测.
科学领域:
- 遗传学和瘤学 在
- 病理学 病理学 病理学
- 内分泌学 在内分泌学.
背景情况:
- 蛋白质综合征是一种罕见的马赛克过度生长障碍,与体质AKT1变体有关.
- 它增加了良性和恶性瘤的风险,包括副质质.
- 在Proteus综合征中的副瘤是不太了解的.
研究的目的:
- 为了记录Proteus综合征的男性副骨瘤的临床病理特征.
- 为了研究这些瘤的组织学谱和免疫组织化学特征.
- 为了确定与AKT1基因变异的关联.
主要方法:
- 长度自然史研究,对64名具有遗传确认的蛋白质综合征的男性进行了研究.
- 对12个副骨质的手术和组织病理学审查.
- 瘤样本的免疫组织化学和外基因组测序.
主要成果:
- 19%的男性患有副骨质质块,通常是单边的,小的,增长缓慢的.
- 瘤表现出多样化的组织结构,经常是米勒尔类型 (乳头细胞瘤,腺癌,布伦纳瘤).
- 一致的PAX8,WT1,ER和PR表达支持了Müllerian血统;所有测序的瘤都含有AKT1c.49G>A变体.
结论:
- 副瘤瘤是蛋白质综合征表型的重要组成部分.
- 这些瘤表现出Müllerian分化,并与AKT1 c.49G>A变异相关.
- 复发和非典型组织学突出显示了需要警的随访.
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