揭示了一个新的SORBS2::BRAF融合在乳头甲状腺癌:从分子诊断的见解
Yuning Dai1, Ting Ni1, Aoni Hu1
1Department of General Surgery, the First Affiliated Hospital of Soochow University, No.188 Shizi Street, Suzhou, Jiangsu, 215006, China.
Virchows Archiv : an international journal of pathology
|February 21, 2026
概括
在乳头甲状腺癌 (PTC) 中发现了一种新的SORBS2::BRAF融合,扩大了这种常见癌症的已知遗传驱动因素. 这种罕见的融合激活了MAPK通路,凸显了在PTC中需要分子诊断和向治疗的需要.
科学领域:
- 在瘤学瘤学.
- 分子生物学分子生物学
- 遗传学 是一个遗传学.
背景情况:
- 乳头甲状腺癌 (PTC) 是最常见的甲状腺癌,通常是由MAPK通路激活驱动的.
- BRAF V600E突变很常见,但BRAF融合越来越多地被认为是致癌的驱动因素.
- 由于自抑制域的丧失,BRAF融合通常会导致构成性MAPK通路的激活.
研究的目的:
- 在乳头甲状腺癌的情况下报告一种新的SORBS2::BRAF融合.
- 描述基因变异及其对MAPK信号传递的功能影响.
- 扩大对甲状腺癌中BRAF变化的理解.
主要方法:
- 细针吸收活检和组织病理学检查用于诊断.
- 下一代测序 (NGS) 用于识别遗传融合.
- 用RT-PCR和桑格测序进行确认.
- 定量PCR用于评估MAPK通路的激活.
主要成果:
- 在一个PTC患者身上发现了一种新的SORBS2::BRAF内框架融合 (外显子18和外显子9).
- 融合蛋白保留了BRAF激酶域,缺乏自身抑制的域.
- 在瘤中观察到MAPK通路目标基因 (DUSP6,CCND1,ETV4,c-Myc,c-FOS) 的升级.
- 这种SORBS2::BRAF融合以前没有在任何癌症类型中报告过.
结论:
- 新型SORBS2::BRAF融合是通过构成性MAPK通路激活在PTC中的潜在瘤驱动因素.
- 分子诊断对于识别甲状腺癌中罕见的遗传变异至关重要.
- 这一发现需要进一步研究针对BRAF融合驱动的甲状腺癌的向治疗方法.
关键词:
SORBS2::BRAFF 吸收2::BRAF 吸收2::BRAF 吸收2::BRAF 吸收2::BRAF 吸收2::BRAF 吸收2::BRAF在BRAF的核聚变过程中,分子诊断学 分子诊断学乳头甲状腺癌是一种乳头甲状腺癌.有针对性的治疗.更多相关视频
09:49Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
10.0K
10:16Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
Published on: October 8, 2015
13.7K
相关概念视频
02:57Targeted Cancer Therapies
9.0K
The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against...
There are several types of targeted therapies against...
9.0K
02:23Abnormal Proliferation
5.3K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
5.3K