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Gastric Adenocarcinoma in Association with Tuberous Sclerosis

机译:结节性硬化相关的胃腺癌

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摘要

We report the first case of gastric cancer in association with tuberous sclerosis. Tuberous sclerosis is an autosomal dominant disorder which presents with a constellation of signs including benign tumours in the brain and in other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioural problems, skin abnormalities, and lung and kidney disease. It is caused by mutations on either of two genes, tuberous sclerosis genes, TSC1 or TSC2, which encode for the proteins hamartin and tuberin respectively. These proteins act as tumour growth suppressor agents that regulate cell proliferation and differentiation. Tuberous sclerosis has been associated with hamartomatous growths and angiomyolipomas, an association with gastric cancer has not been reported; however, this could be a co-incidental finding and further cases need to be reported.
机译:我们报告与结节性硬化症相关的第一例胃癌。结节性硬化症是一种常染色体显性遗传疾病,表现为一系列星座,包括大脑和其他重要器官(如肾脏,心脏,眼睛,肺和皮肤)的良性肿瘤。症状的组合可能包括癫痫发作,发育迟缓,行为问题,皮肤异常以及肺和肾脏疾病。它是由两个基因(结节性硬化基因TSC1或TSC2)中的任何一个突变引起的,这两个基因分别编码蛋白质hamartin和tuberin。这些蛋白质充当调节细胞增殖和分化的肿瘤生长抑制剂。结节性硬化症与错构瘤的生长和血管平滑肌脂肪瘤相关,尚未见与胃癌的相关性。但是,这可能是一个偶然发现,需要进一步报告。

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