家族性腺瘤性息肉病
外显子组测序
大肠腺瘤性息肉病
医学
家族史
穆提
皮肤病科
种系突变
遗传学
突变
内科学
基因
结直肠癌
生物
癌症
作者
D. Yu. Pikunov,A. N. Loginova,A. M. Kuzminov,M Kh Toboeva,A. A. Barinov,A. S. Tsukanov
出处
期刊:Koloproktologiâ
[Russian Association of Coloproctology]
日期:2022-06-21
卷期号:21 (2): 25-33
标识
DOI:10.33878/2073-7556-2022-21-2-25-33
摘要
Aim: based on literature data and our own experience, to demonstrate the need for a meticulous family history harvesting in patients with suspected hereditary polyposis syndrome, as well as the importance of conducting a complex molecular genetic study. Materials and methods: the most known among hereditary polyposis syndromes is familial adenomatous polyposis (FAP).At the same time, according to the literature, one of the hamartomatous polyposis syndromes- juvenile polyposis - may mimic endoscopic picture of adenomatous polyposis. The article presents a clinical observation of a family whose members have been suspected of having FAP for several years, and only whole-exome sequencing helped to establish the diagnosis of juvenile polyposis syndrome. Results: based on the family history, as well as the clinical picture of the disease, which was somewhat unusual for FAP, the patient underwent whole-exome sequencing, which revealed a previously undescribed pathogenic variant in the SMAD4 gene - c.705dupA (p.Gly236ArgfsTer28). The presence of a similar mutation was also confirmed in 3 close relatives of the patient. Conclusion: taking into account the wide phenotypic variability of manifestations of juvenile polyposis, molecular genetic study of the SMAD4 and BMPR1A genes is of particular importancein patients with a clinic of adenomatous polyposis syndrome and the absence of mutations in the APC and MutYH genes.
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