一个七口之家的先天性错配修复缺陷综合征与林奇综合征共存：MSH6突变与儿童结直肠癌——病例系列
Coexistence of Constitutional Mismatch Repair Deficiency syndrome and Lynch syndrome in a family of seven : MSH6 mutation and childhood colorectal cancer - a case series.
作者信息
Athanasiadis Dimitrios I, Athanasiadou Kleoniki I, Voulgaridou Aikaterini, Zafeiriou Dimitrios I, Kattamis Antonios, Christodoulou Dimitrios K, Papakonstantinou Evgenia
机构信息
Department of Surgery, Indiana University School of Medicine, Indianapolis, IN, USA.
Pediatric Oncology Department, Hippokration Hospital, Thessaloniki, Greece.
出版信息
Acta Gastroenterol Belg. 2020 Jul-Sep;83(3):479-481.
PURPOSE
To present a case series of two fraternal twin girls who passed away from brain and colorectal cancers attributed to Constitutional Mismatch Repair Deficiency syndrome (CMMRD). A review of literature for CMMRD-related pediatric malignancies is also presented.
METHODS
The two girls were diagnosed with cancer at the age of 11 and 13 respectively. The early onset of multiple malignancies in the family raised clinical suspicion for a potential genetic mutation. The presence of café-au-lait spots at clinical examination led to further investigations for neurofibromatosis.
RESULTS
Neurofibromatosis type 1 testing was negative in both children. Genetic analysis turned out positive for biallelic MSH6 mutations in the two girls, leading to CMMRD syndrome diagnosis. Both parents and two out of three alive siblings were diagnosed with Lynch syndrome.
CONCLUSIONS
Colorectal cancer is a very rare finding in childhood and should raise suspicion for CMMRD syndrome and should be followed by regular screening.
目的
介绍一对异卵双胞胎女孩的病例系列，她们因遗传性错配修复缺陷综合征（CMMRD）死于脑癌和结直肠癌。同时还对与CMMRD相关的儿童恶性肿瘤的文献进行了综述。
方法
这两名女孩分别在11岁和13岁时被诊断出患有癌症。家族中多种恶性肿瘤的早发引起了临床对潜在基因突变的怀疑。临床检查中发现的咖啡牛奶斑导致了对神经纤维瘤病的进一步检查。
结果
两名儿童的1型神经纤维瘤病检测均为阴性。基因分析显示这两名女孩双等位基因MSH6突变呈阳性，从而诊断为CMMRD综合征。父母以及三个在世兄弟姐妹中的两个被诊断出患有林奇综合征。
结论
结直肠癌在儿童时期非常罕见，应引起对CMMRD综合征的怀疑，并应定期进行筛查。
Zotero 插件