Exome analysis for Cronkhite-Canada syndrome: A case report

作者全名："Li, Zhao-Dong; Rong, Li; He, Yuan-Jing; Ji, Yu-Zhu; Li, Xiang; Song, Fang-Zhou; Li, Xiao-An"

作者地址："[Li, Zhao-Dong; He, Yuan-Jing; Li, Xiao-An] Mianyang Cent Hosp, Dept Gastroenterol, Mianyang 621000, Sichuan, Peoples R China; [Li, Zhao-Dong; Song, Fang-Zhou] Chongqing Med Univ, Basic Med Coll, Chongqing 410000, Peoples R China; [Rong, Li] Chongqing Med Univ, Bishan Hosp Chongqing, Dept Gastroenterol, Bishan Hosp, Chongqing 402760, Sichuan, Peoples R China; [Ji, Yu-Zhu] Mianyang Cent Hosp, Dept Pathol, Mianyang 621000, Sichuan, Peoples R China; [Li, Xiang] Chongqing Med Univ, Dept Cardiovasc Med, Affiliated Hosp 1, Chongqing 410000, Peoples R China; [Li, Xiao-An] Mianyang Cent Hosp, Dept Gastroenterol, 12 Jingzhong Rd, Mianyang 621000, Sichuang, Peoples R China"

通信作者："Li, XA (通讯作者)，Mianyang Cent Hosp, Dept Gastroenterol, 12 Jingzhong Rd, Mianyang 621000, Sichuang, Peoples R China."

来源：WORLD JOURNAL OF CLINICAL CASES

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:000863262300021

JCR分区：Q3

影响因子：1.1

年份：2022

卷号：10

期号：24

开始页：8634

结束页：8640

文献类型：Article

关键词：Whole exome sequencing; Cronkhite-Canada syndrome; Somatic mutations; Case report

摘要："BACKGROUND Cronkhite-Canada syndrome (CCS) is a rare, non-genetic disorder characterized by multiple gastrointestinal polyps, and ectodermal lesions such as alopecia, fingernail atrophy, and skin mucosal pigmentation. Unfortunately, the pathogenesis of CCS is currently unknown. CASE SUMMARY Here, we describe the case of an elderly female with diarrhea, fatigue, and hair loss, who experienced abdominal pain for over half a year and was found to have multiple gastrointestinal polyps. She was diagnosed with CCS and was treated with albumin supplementation and prednisone, and her electrolyte imbalance was corrected. Following treatment, her symptoms significantly improved. To elucidate the role of potential genetic events in the pathogenesis of CCS, we performed exome sequencing using an extract of her colorectal adenoma. CONCLUSION Our data revealed multiple somatic mutations and copy number variations. Our findings provide a novel insight into the potential mechanisms of CCS etiology."

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