在家族性乳腺癌中遗传性癌症综合征:对主动胃癌监测的洞察力
Jennifer Wiese1, Swapna Sirigireddy1, Abdelwahap Elghezewi1
1Internal Medicine Department, Joan Edwards School of Medicine, Erma Ora Byrd Center, Marshall University, Huntington, WV, USA.
Journal of investigative medicine high impact case reports
|September 20, 2025
概括
遗传性扩散性胃癌 (HDGC) 和乳腺癌的风险随着CDH1基因突变而增加. 这一案例突出了针对受影响个体的预防性手术的个性化监测.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 胃肠病学 胃肠病学
背景情况:
- 遗传性扩散性胃癌 (HDGC) 是一种罕见的,具有攻击性的恶性瘤,与卡德林1 (CDH1) 基因突变有关.
- CDH1突变也会增加患乳腺侵袭性叶状癌 (ILC) 的风险.
- 早期诊断HDGC具有挑战性,往往导致患者的治疗结果不佳.
研究的目的:
- 介绍一个关于两个患有CDH1突变的姐妹的案例研究.
- 讨论CDH1突变对HDGC和乳腺癌风险的影响.
- 突出个性化监测策略在管理遗传性癌症综合征.
主要方法:
- 两位姐妹 (62岁和70岁) 的病例报告证实了CDH1突变.
- 详细审查他们的病史,包括乳腺癌诊断 (ILC).
- 他们选择的监测协议的描述:每年使用超声波进行内镜消化腺二透镜检查,减少预防性手术.
主要成果:
- 两个姐妹都携带了CDH1突变,被诊断出患有侵袭性叶状癌.
- 他们选择了密集监测,而不是预防性手术,因为他们的HDGC风险.
- 这一案例强调了在有胃癌和乳腺癌病史的家庭中进行基因查的重要性.
结论:
- CDH1突变需要全面的遗传查和风险评估.
- 个性化管理,包括量身定制的监测,对于患有遗传性癌症综合征的患者至关重要.
- 识别罕见的遗传倾向指导临床决策并改善患者护理.
相关概念视频
Cancer Prevention
7.7K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
7.7K
Cancer-Critical Genes II: Tumor Suppressor Genes
9.4K
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...
9.4K
Cancer-Critical Genes I: Proto-oncogenes
11.2K
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...
11.2K
Cancers Originate from Somatic Mutations in a Single Cell
14.6K
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...
14.6K
Barrett Esophagus-I: Introduction
642
Barrett's esophagus is a medical condition where the esophageal mucosa is significantly damaged by stomach acid or other digestive fluids, often due to long-term exposure associated with gastroesophageal reflux disease (GERD). In GERD, a weakened or abnormally relaxed lower esophageal sphincter allows stomach acid to flow persistently into the esophagus.
This constant acid exposure transforms the esophagus's pink mucosal lining (stratified squamous epithelium) into a type of lining more...
This constant acid exposure transforms the esophagus's pink mucosal lining (stratified squamous epithelium) into a type of lining more...
642
Tumor Progression
7.2K
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...
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...
7.2K


