Hematology/Oncology/BMT, Nationwide Children's Hospital, Columbus, Ohio, USA.
Pediatrics, Ohio State University College of Medicine, Columbus, Ohio, USA.
BMJ Case Rep. 2020 Jul 1;13(7):e233935. doi: 10.1136/bcr-2019-233935.
The diagnosis of paediatric colorectal cancer is an unusual finding often diagnosed at an advanced stage with associated poor survival. Paediatric colorectal cancer warrants investigation for hereditary cancer predisposition syndromes, including Lynch syndrome. Here we describe a 16-year-old girl who presented with a stage IIA mucinous adenocarcinoma of the descending colon (T3 N0 M0) treated by resection alone that was associated with a pathogenic germline mutation of (c.1786_1788delAAT (p.Asn596del)). This previously described mutation was not found in either parent or her three siblings. To our knowledge, this is the earliest reported case of paediatric Lynch syndrome-associated colorectal cancer by mutation of This case illustrates that although Lynch syndrome is typically described as an adult-onset cancer syndrome, Lynch syndrome-associated colorectal cancer can be found in children and adolescents. Genetic testing should be considered as a part of the initial evaluation in these patients.
小儿结直肠癌的诊断并不常见，通常在晚期诊断，且生存率较差。小儿结直肠癌需要进行遗传性癌症易感性综合征的检查，包括 Lynch 综合征。本文描述了一位 16 岁的女孩，她因 IIA 期降结肠癌（T3 N0 M0）黏液性腺癌就诊，仅接受了手术治疗，该患者携带致病性种系突变（c.1786_1788delAAT (p.Asn596del)）。这一先前描述的突变在父母或她的三个兄弟姐妹中均未发现。据我们所知，这是首例由 基因突变引起的小儿 Lynch 综合征相关结直肠癌病例。该病例表明，尽管 Lynch 综合征通常被描述为成人发病的癌症综合征，但 Lynch 综合征相关结直肠癌也可发生在儿童和青少年中。在这些患者中，应考虑进行基因检测。
