在贝塞斯达II,III和IV类甲状腺结节中的DICER1突变:与BRAFV600E突变相互排斥的关系
Yulian Wang1,2, Guangqi Li3, Weimao Kong3
1Department of Pathology, School of Basic Medicine, Qingdao University, Qingdao, Shandong, China.
Cancer cytopathology
|July 3, 2025
概括
在贝塞斯达类别II,III和IV的甲状腺结节中发现了Dicer 1 (DICER1) 突变. 这些DICER1突变结节很少与BRAF突变相关,有助于准确的甲状腺结节诊断.
科学领域:
- 内分泌学 在内分泌学.
- 分子生物学分子生物学
- 在瘤学瘤学.
背景情况:
- 调查甲状腺结节中Dicer 1,Ribonuclease III (DICER1) -突变细针吸收 (FNA) 标本的流行率和细胞学特征.
- 在贝塞斯达III甲状腺结节中探索DICER1和BRAFV600E突变之间的关系.
研究的目的:
- 确定甲状腺结节中DICER1突变的频率,跨越贝塞斯达类别II,III和IV.
- 澄清贝塞斯达III甲状腺结节中DICER1突变和BRAFV600E突变之间的关联.
- 确定DICER1-突变甲状腺结核的临床和细胞学特征.
主要方法:
- 收集了连续的FNA病例,诊断为贝塞斯达类别II,III和IV.
- 通过桑格测序检测到DICER1表因子24和25以及TERT促进子突变.
- 在贝塞斯达III和IV病例中使用放大耐火突变系统PCR检测到BRAFV600E突变.
主要成果:
- 在贝塞斯达II的6.2%,贝塞斯达III的4.9%,贝塞斯达IV结节的10.4%中发现了DICER1突变.
- 在贝塞斯达III结节中,BRAFV600E和DICER1突变是相互排斥的.
- DICER1-突变结核与年轻的患者和更大的体积有关;贝塞斯达III DICER1-突变FNA被归类为意义不明的异型 (AUS) -其他.
结论:
- DICER1-突变的甲状腺结节不太可能携带BRAF突变,这表明有不同的分子通路.
- 对DICER1突变FNA的进一步分子表征可以提高细胞学诊断的准确性.
- 这些发现支持分子测试在完善甲状腺结节分类方面的实用性.
相关概念视频
Abnormal Proliferation
4.6K
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...
4.6K
The Retinoblastoma Gene
4.2K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.2K
Cancer-Critical Genes II: Tumor Suppressor Genes
8.1K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
8.1K
The Ras Gene
6.4K
The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...
Ras is a...
6.4K
M-Cdk Drives Transition Into Mitosis
5.7K
Checkpoints throughout the cell cycle serve as safeguards and gatekeepers, allowing the cell cycle to progress in favorable conditions and slow or halt it in problematic ones. This regulation is known as the cell cycle control system.
Cyclin-dependent kinases, or Cdks, work in concert with cyclins to control cell cycle transitions. M-Cdk, a complex of Cdk1 bound to M cyclin, is a well-known example of this coordinated control that drives the transition from the G2 to the M phase.
M cyclin...
Cyclin-dependent kinases, or Cdks, work in concert with cyclins to control cell cycle transitions. M-Cdk, a complex of Cdk1 bound to M cyclin, is a well-known example of this coordinated control that drives the transition from the G2 to the M phase.
M cyclin...
5.7K
Cancers Originate from Somatic Mutations in a Single Cell
13.0K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
13.0K


