林奇综合征:从消化内科医生的角度看问题

IF 0.1 Q4 MEDICINE, GENERAL & INTERNAL Romanian Journal of Military Medicine Pub Date : 2023-10-01 DOI:10.55453/rjmm.2023.126.5.4
Livia Ș. Drăgan, Cristian Gheorghe
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引用次数: 0

摘要

"结直肠癌是欧盟和罗马尼亚癌症致死的主要原因之一。林奇综合征是一种常染色体显性遗传疾病,约有 3% 的结直肠癌患者患有该病,其定义是错配修复基因(MLH1、MSH2、MSH6 和 PMS2)发生突变。除了结直肠癌(CRC)的高风险外,他们还表现出子宫内膜癌、卵巢癌、胃癌、胰腺癌、脑癌、小肠癌和皮脂腺癌的高风险。诊断通常是由肠胃病医生做出的,通常是当他遇到一个年轻的病人,其症状提示存在结肠肿瘤并有 CRC 家族史时。消化内科医生的职责是根据最新的指南,研究最佳做法,以便进行早期诊断,预防间期癌症或与林奇综合征相关的其他消化道肿瘤。登记册在对这些特殊类型的患者进行最佳监测方面发挥着重要作用,每个国家都应建立登记册。它们将使临床医生对疾病有更好的了解,并为他们提供更标准化的护理质量"。
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Lynch Syndrome: Approach from the Gastroenterologist’s Point of View
"Colorectal cancer is one of the main causes of death by cancer in the European Union and in Romania. Lynch Syndrome is an autosomal dominant inherited disease that affects around 3% of all colorectal cancer patients, defined by mutations in the mismatch repair genes (MLH1, MSH2, MSH6, PMS2). Aside from the high risk for colorectal cancer (CRC), they exhibit a high risk for endometrial cancer, ovarian cancer, gastric cancer, pancreatic cancer, brain cancer, small bowel cancer, and sebaceous gland cancer. Diagnosis is often made by the gastroenterologist, usually when he meets a young patient with symptoms suggesting the presence of a colonic tumor and a family history of CRC. The role of the gastroenterologist is to investigate the best practices in order to have an early diagnosis and to prevent interval cancers according to the newest guidelines or other gastrointestinal tract tumors associated with Lynch Syndrome. Registries play an important role in the optimal surveillance of these particular categories of patients and should be put into place in every country. They will allow clinicians to have a better understanding of the disease and a more standardized quality of care for them."
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来源期刊
Romanian Journal of Military Medicine
Romanian Journal of Military Medicine MEDICINE, GENERAL & INTERNAL-
自引率
33.30%
发文量
2
审稿时长
12 weeks
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