相关实验视频

Updated: Jun 26, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

散发性甲状腺髓性癌患者下一代测序:突变特征和疾病侵略性

Aditya S Shirali¹, Mimi I Hu², Yi-Ju Chiang¹

¹Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.

Journal of the Endocrine Society

|April 25, 2024

概括

包括RET M918T在内的体内RET突变在零星髓性甲状腺癌 (sMTC) 中很常见,但不会影响疾病特异性存活率或整体存活率. 诊断时的年龄和M1阶段是sMTC的关键预后因素.

科学领域:

在瘤学瘤学.
遗传学是一个遗传学.
分子生物学分子生物学

背景情况:

在偶发性髓性甲状腺癌 (sMTC) 中,下一代测序 (NGS) 检测到人体突变.
此前,RET M918T突变被认为是sMTC中的负预后指标.

研究的目的:

调查临床病理行为与通过sMTC中通过临床动机的NGS识别的体质突变之间的关联.
确定特定的体质突变,特别是RET M918T,是否与疾病进展和生存结果相关.

主要方法:

对接受NGS治疗的sMTC患者进行回顾性队列研究,用于治疗规划.
分析临床病理因素,远程转移性疾病 (DMD) 的时间,疾病特异性存活率 (DSS) 和整体存活率 (OS).
基于确定的体质突变 (包括RET M918T,其他RET变异,RAS突变和RET/RAS野生型状态) 的结果比较.

主要成果:

在191个sMTC瘤中发现了体性突变,其中RET M918T是最常见的 (53.4%).
在RET M918T,其他RET突变或RET野生型状态的患者之间没有观察到性别,TNM阶段,治疗,DMD,DSS或OS的时间的显著差异.
多变量分析表明,诊断时的年龄较大和M1阶段与DSS和OS降低有关,但突变状态没有.

结论:

包括M918T变异在内的体质RET突变似乎不会对sMTC患者的疾病特异性存活率或整体存活率产生负面影响.
临床因素,如年龄和转移阶段在sMTC中比NGS识别的特定体质突变更为重要的预后指标.

关键词:

化疗化疗是一种化学疗法.临床结果的临床结果.分子测试试验分子测试这是下一代测序.身体突变是一种体质突变.幸存率幸存率生存率

更多相关视频

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer

Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer

Published on: September 8, 2023

相关概念视频

Tumor Progression

Tumor Progression

Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...