早期发病的肉瘤与生殖系MAX变异:扩大谱在遗传性乳红细胞瘤和Paraganglioma
Aysegul Eren1, Pamela L Brock2, Priya H Dedhia3
1Division of Endocrinology, Department of Internal Medicine, Ohio State University Comprehensive Cancer Center and Ohio State University Wexner Medical Center, Columbus, OH 43210, USA.
JCEM case reports
|June 10, 2025
概括
在MYC相关的X因子 (MAX) 中的生殖系变异可以导致遗传性乳红细胞瘤和偏角细胞瘤 (PPGL). 这一案例突显了MAX变种与肉瘤发展之间的潜在联系,表明需要更广泛的监测.
科学领域:
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 与MYC相关的X因子 (MAX) 中的生殖系病原体变异是一种罕见的遗传性乳红细胞瘤和偏角细胞瘤 (PPGL) 综合征的原因.
- 与MAX相关的PPGL通常存在于染细胞瘤 (PCC),通常是双边的,具有上腺素表型,但整个瘤谱不清楚.
研究的目的:
- 报告一个患有生殖系MAX病原性变异的年轻男性病例,呈现双边PCC和随后的肝脏肉瘤.
- 探索MAX致病变体与增加对肉瘤发展的倾向之间潜在的关联.
- 建议扩大对MAX变种携带者的监视指南.
主要方法:
- 一个28岁的男性患有生殖系MAX变种 (c.64-2A>G) 的病例报告.
- 临床表现包括双边PCC,TP53变异的肝肉瘤和PLEKHO2::BRAF基因融合.
- 关于MAX相关的PPGL和相关恶性瘤的文献综述.
主要成果:
- 患者出现了双边PCC和肝脏肉瘤.
- 这种肉瘤含有TP53变体和PLEKHO2::BRAF基因融合.
- 这一案例表明,MAX变种与肉瘤发展之间存在潜在的联系.
结论:
- 与MAX相关的PPGL可能与其他恶性瘤有关,包括肉瘤.
- 扩大监测,包括全身成像,可能有必要用于早期检测MAX变种携带者的副上腺瘤.
- 需要进一步的研究来定义MAX相关疾病的全部范围,并建立基于证据的监测策略.
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