机构：[1]Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China[2]Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China[3]Neurosurgery Department, Beijing Children’s Hospital, Capital Medical University, Beijing, China临床科室急症普外科神经外科首都医科大学附属北京儿童医院[4]The Research Center for Medical Genomics, China Medical University, Shenyang, China[5]Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, McKusick-Zhang Center for Genetic Medicine, School of Basic Medicine Peking Union Medical College, Beijing, China
Key Clinical Message 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 MSH6 c.3103C>T p.Arg1035Ter and c.3261dupC p.Phe1088LeufsTer were discovered.
基金：
Chinese Academy of Medical Sciences (CAMS) Initiative for Innovative Medicine(CAMS-I2M) [2017-I2M-1-001]; Central public welfare and Basic scientific research business expenses of Chinese Academy of Medical Sciences [2015PT320017]
语种：
外文
被引次数：
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2017]版：
无
最新[2025]版：
大类|4 区医学
小类|4 区医学：内科
第一作者：
第一作者机构：[1]Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
通讯作者：
通讯机构：[1]Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China[3]Neurosurgery Department, Beijing Children’s Hospital, Capital Medical University, Beijing, China[5]Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, McKusick-Zhang Center for Genetic Medicine, School of Basic Medicine Peking Union Medical College, Beijing, China[*1]Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Beijing, China.[*2]Neurosurgery Department, Beijing Children’s Hospital, Capital Medical University, Beijing, China.
推荐引用方式(GB/T 7714)：
Ling Chao,Yang Wei,Sun Hailang,et al.Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome[J].CLINICAL CASE REPORTS.2018,6(8):1448-1451.doi:10.1002/ccr3.1564.
APA：
Ling, Chao,Yang, Wei,Sun, Hailang,Ge, Ming,Ji, Yuanqi...&Zhang, Xue.(2018).Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome.CLINICAL CASE REPORTS,6,(8)
MLA：
Ling, Chao,et al."Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome".CLINICAL CASE REPORTS 6..8(2018):1448-1451
