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基因中的罕见复合杂合突变导致组成型错配修复缺陷综合征。

Rare compound heterozygous mutations in gene cause constitutive mismatch repair deficiency syndrome.

作者信息

Ling Chao, Yang Wei, Sun Hailang, Ge Ming, Ji Yuanqi, Han Shirui, Zhang Di, Zhang Xue

机构信息

Laboratory of Clinical Genetics Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China.

Department of Medical Genetics Capital Institute of Pediatrics Beijing China.

出版信息

Clin Case Rep. 2018 Jun 8;6(8):1448-1451. doi: 10.1002/ccr3.1564. eCollection 2018 Aug.

DOI:10.1002/ccr3.1564
PMID:30147880
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6099036/
Abstract

Few studies reported patients who harbored three kinds of primary tumors simultaneously. Here, we present a 9-year-old boy with colon carcinoma, brain medulloblastoma, and lymphoma. Genetic mutation detection was explored with next-generation sequencing, and compound heterozygous mutations in gene c.3103C>T p.Arg1035Ter and c.3261dupC p.Phe1088LeufsTer were discovered.

摘要

很少有研究报道过同时患有三种原发性肿瘤的患者。在此，我们报告一名9岁男孩，他同时患有结肠癌、脑髓母细胞瘤和淋巴瘤。采用下一代测序技术进行基因突变检测，发现基因c.3103C>T p.Arg1035Ter和c.3261dupC p.Phe1088LeufsTer存在复合杂合突变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f099/6099036/b48896839361/CCR3-6-1448-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f099/6099036/16674a137aca/CCR3-6-1448-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f099/6099036/b48896839361/CCR3-6-1448-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f099/6099036/16674a137aca/CCR3-6-1448-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f099/6099036/b48896839361/CCR3-6-1448-g002.jpg

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本文引用的文献

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J Mol Diagn. 2017 Jan;19(1):84-91. doi: 10.1016/j.jmoldx.2016.07.010. Epub 2016 Nov 15.
2
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.先天性错配修复缺陷综合征：法国队列中的临床描述
J Med Genet. 2015 Nov;52(11):770-8. doi: 10.1136/jmedgenet-2015-103299. Epub 2015 Aug 28.
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High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.
Brain Pathol. 2020 May;30(3):679-690. doi: 10.1111/bpa.12804. Epub 2019 Dec 16.
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Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.遗传性结直肠癌易感性基因缺陷的鉴定进展
J Cancer. 2019 Jan 1;10(3):643-653. doi: 10.7150/jca.28542. eCollection 2019.
来自结肠癌家族登记处的错配修复基因突变携带者所诊断出的前列腺癌中，错配修复缺陷的高患病率。
Fam Cancer. 2014 Dec;13(4):573-82. doi: 10.1007/s10689-014-9744-1.
4
A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.一种用于错配修复基因诊断遗传测试的大规模平行测序工作流程。
Mol Genet Genomic Med. 2014 Mar;2(2):186-200. doi: 10.1002/mgg3.62. Epub 2014 Jan 21.
5
Molecular and clinical characteristics of MSH6 germline variants detected in colorectal cancer patients.在结直肠癌患者中检测到的 MSH6 种系变异的分子和临床特征。
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6
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7
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