与胰腺和肺部神经内分泌瘤相关的遗传综合征
Nektaria Papadopoulou-Marketou1, Marina Tsoli1, Eleftherios Chatzellis2
1Neuroendocrine Tumor Unit, EURACAN 4 and ENETS Centre of Excellence, 1st Department of Propaedeutic Internal Medicine, Laiko General Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece.
Cancers
|June 19, 2024
概括
遗传性瘤综合征,如MEN1,显著增加胰腺神经内分泌瘤 (PanNETs) 和肺 NETs (LNETs) 的风险. 早期遗传查和专业管理对于这些罕见的瘤至关重要.
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:
- 胰腺神经内分泌瘤 (PanNETs) 和肺 NETs (LNETs) 是一种罕见的瘤.
- 大约17%的PanNETs和一些LNETs是由遗传的家族瘤综合征引起的,特别是多发性内分泌瘤1型 (MEN1).
- 其他相关的综合征包括MEN4,·希佩尔-林道 (VHL),神经纤维素瘤类型1 (NF1) 和结核性硬化综合体 (TSC).
研究的目的:
- 突出与PanNETs和LNETs相关的遗传综合征的遗传基础和临床影响.
- 强调早期检测,基因查和这些患者的专业管理的重要性.
- 强调需要对侵袭性疾病过程中的生物标志物进行进一步研究.
主要方法:
- 在家族性瘤综合征的背景下,对PanNETs和LNETs现有文献的审查.
- 对临床表现,遗传突变和管理策略的分析.
- 对受影响个人和家庭的诊断和后续方案进行讨论.
主要成果:
- 遗传性综合征与影响细胞生长和血管生成的遗传突变有关.
- 遗传性综合征中的瘤通常是多焦点的,在较年轻时出现,并与其他内分泌/非内分泌瘤相关.
- MEN1是与LNETs相关的最常见的综合征,包括典型和非典型的癌症.
结论:
- 早期检测和特定的后续协议对于管理遗传泛网和LNET至关重要.
- 建议在儿童期进行基因查和青少年期进行诊断查,即使对于无症状携带者也是如此.
- 专业中心的多学科团队管理是最佳的,需要生物标志物来指导治疗决策.
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