Abstract:
Cowden syndrome (CS) is a rare disease that was first described in 1963 and later included in the large group of genodermatoses. It is the most common syndrome among the PTEN-associated hamartomatous tumor syndromes (PHTS). CS has an autosomal dominant inheritance pattern, with increased penetrance and variable expressivity, making early diagnosis difficult. Mutations in the PTEN gene (phosphatase and TENsin homolog) are involved in its pathogenesis, involving many organs and systems originating in the three embryonic layers (ectodermum, endodermum, and mesodermum). The consequence is the development of hamartomatous lesions in various organs (brain, intestines, thyroid, oropharyngeal cavity, colon, rectum, etc.). Multiple intestinal polyps are common in patients with CS, being identified in over 95% of patients undergoing colonoscopy. The authors describe the case of a patient who presented the first signs of the disease at 3 ½ years (tonsil polyp) but was diagnosed only at the age of 20 following a colonoscopy that revealed hundreds of intestinal polyps, suggesting further molecular testing. A heterozygous frameshift mutation was identified in the PTEN gene, classified as a potentially pathogenic variant (c.762del.p(Val255*)). The authors present this case to highlight the path taken by the patient from the first symptoms to the diagnosis and to emphasize the clinical aspects of this mutational variant that have still not been identified in other patients with this syndrome.
摘要:
Cowden综合征(CS)是一种罕见的疾病,最早于1963年被描述,后来被包括在一大批遗传性皮肤病中。它是PTEN相关错构瘤综合征(PHTS)中最常见的综合征。CS具有常染色体显性遗传模式,随着外显率和表现力的增加,使早期诊断变得困难。PTEN基因(磷酸酶和TENsin同源物)的突变参与了其发病机理,涉及起源于三个胚胎层的许多器官和系统(外胚层,内膜,和中胚层)。结果是各种器官(大脑,肠子,甲状腺,口咽腔,结肠,直肠,等。).多发性肠息肉常见于CS患者,在95%以上接受结肠镜检查的患者中被发现。作者描述了一个患者的情况,该患者在3½年(扁桃体息肉)出现了该疾病的最初迹象,但在结肠镜检查显示数百个肠息肉后仅在20岁时被诊断出,建议进一步的分子测试。在PTEN基因中鉴定出杂合移码突变,被归类为潜在致病变体(c.762del.p(Val255*)。作者介绍此病例是为了强调患者从最初症状到诊断的路径,并强调这种突变变异的临床方面,而在其他患有该综合征的患者中仍未发现。