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卵泡衍生的甲状腺癌中不常见的分子变化:一个单一机构的研究研究
Borislav A Alexiev1, Erica R Vormittag-Nocito1, Jochen Lorch2
1Department of Pathology, Northwestern University Feinberg School of Medicine, Northwestern Memorial Hospital, 251 East Huron St, Feinberg 7-342A, Chicago, IL 60611, USA.
Pathology, research and practice
|May 19, 2024
概括
不常见的遗传变化导致侵袭性甲状腺癌,包括乳头和差异化类型. 分子测试对于识别高度甲状腺癌中可操作的突变和融合至关重要,从而改善患者管理.
科学领域:
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
- 分子生物学分子生物学
背景情况:
- 甲状腺癌是常见的内分泌恶性瘤,通常与MAPK和PI3K/AKT通路变化有关,在分化良好的瘤中.
- 不太常见的分子变化越来越多地被识别在差异化或形甲状腺癌中,通常与攻击性行为有关.
研究的目的:
- 在各种甲状腺癌亚型中识别和表征不常见的遗传变化.
- 研究这些罕见突变和融合的临床意义和潜在治疗点.
- 评估分子测试在高度卵泡衍生的甲状腺癌中的实用性.
主要方法:
- 甲状腺癌患者样本的综合分子分析.
- 鉴定包括基因融合 (例如NSD3::NUTM1,RET::SPECC1L,G3BP2::FGFR2,NTRK1::TPM3) 和突变 (例如MLH1,MSH2) 在内的遗传改变.
- 分子发现与瘤组织学,等级和临床行为的相关性.
主要成果:
- 在乳头状,差分化和高分化甲状腺癌中发现了不常见的遗传变化.
- 几种已识别的变异,如MLH1,MSH2和各种融合,与瘤的攻击性行为有关.
- 一名患有Li Fraumeni综合征的患者表现出NTRK1::TPM3融合,突出显示了驱动突变和癌症倾向综合征之间的联系.
- 队列中100%的高度卵泡衍生的甲状腺癌存在突变或融合,具有预后,生殖系或可采取行动的含义.
结论:
- 非典型的驱动突变和融合存在于侵袭性甲状腺癌中,包括罕见的亚型.
- 对可采取行动的改变进行分子测试对于管理高度甲状腺癌至关重要.
- 在高度毛囊衍生的甲状腺癌中进行常规分子分析,可以产生重要的临床见解并指导治疗决策.
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