多重内分泌瘤1型与MEN1 c.652C>T (p.Arg218Trp):变体重新归类为可能致病性
Muhammed Kizilgul1,2, Alyssa Gardner3, Raul Herrera1
1Diabetes, Endocrinology and Metabolism, University of Minnesota, Minneapolis, MN 55455, USA.
JCEM case reports
|February 26, 2026
概括
基因测试在MEN1基因中发现了一种不确定的意义 (VUS) 变异. 家庭隔离和临床数据支持将这种变体重新分类为可能致病的多发性内分泌新陈代谢1型.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
背景情况:
- 多重内分泌瘤1型 (MEN1) 是一种遗传性疾病,导致原发性甲状腺功能障碍.
- 临床诊断包括特定的瘤,家族病史或遗传检测.
- 准确的遗传变异分类对于MEN1诊断至关重要.
研究的目的:
- 为了调查一个MEN1基因变异 (c.652C>T) 的致病性,具有相互矛盾的解释.
- 评估患者及其家属MEN1变异的临床意义.
- 确定家族隔离是否支持变种的重新分类.
主要方法:
- 对患有高血症和怀疑MEN的患者的临床评估1.
- 图像研究包括4DCT和部超声波.
- 对患者和母亲的MEN1变异进行基因检测.
- 在家族内对变异分离的分析.
主要成果:
- 一名31岁的妇女出现了原发性副甲状腺炎症,胰腺神经内分泌瘤和垂体囊.
- 基因检测显示了一个MEN1变种 (c.652C>T),被归类为VUS.
- 在患者的母亲身上发现了相同的MEN1变体,该患者的母亲也有原发性甲状腺功能障碍的病史.
- 临床数据和家族隔离支持将变种从VUS重新分类到可能致病的.
结论:
- 这种MEN1变异c.652C>T (p.Arg218Trp) 可能是致病的.
- 临床诊断和家族隔离对于MEN1的变异解释至关重要.
- 精确的遗传分类有助于诊断和管理MEN1综合征.
更多相关视频
09:37Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
Published on: August 25, 2021
2.2K
09:33Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
Published on: August 25, 2023
1.8K
相关概念视频
01:33Cancer-Critical Genes I: Proto-oncogenes
11.6K
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...
11.6K
03:18Non-LTR Retrotransposons
13.6K
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
13.6K
02:21Cancers Originate from Somatic Mutations in a Single Cell
15.1K
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...
15.1K
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
9.9K
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...
9.9K
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