Pediatric manifestations of Lynch Syndrome: A single center experience.
Pediatric manifestations of Lynch Syndrome: A single center experience.
复制标题
林奇综合症的儿科表现：单中心经验。
DOI：
10.1016/j.epsc.2022.102431
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发表时间：
2022
影响因子：
0.4
通讯作者：
Ishitani,MichaelB
中科院分区：
文献类型：
--
作者：
MacArthur,TaleenA;Ongie,LauraJ;Lanpher,BrendanC;Ishitani,MichaelB
Lynch综合征是一种常染色体显性疾病，由DNA错配修复（MMR）基因之一的杂合变异引起，使个体易患早发性结直肠癌和其他恶性肿瘤。林奇综合征通常被认为是一种成人发病的疾病，恶性肿瘤很少出现在儿童时期。结直肠癌在儿童中极为罕见，但包括Lynch综合征在内的遗传综合征是一个重要原因。我们的目的是评估过去20年来我们机构中林奇综合征相关儿童结直肠癌的发生率和临床病程。在这项回顾性研究中，我们描述了4例确诊时年龄为14-17岁的林奇综合征相关儿童结直肠癌病例。所有患者在确诊后均被诊断为Lynch综合征，尽管其中3例有Lynch综合征的家族史，但这一系列突出了一种罕见但重要的儿科恶性肿瘤的原因，并指出需要对大肠癌的警告症状进行早期教育，并在受影响的家庭中公开讨论这种情况。它还说明了需要彻底的家族史和高度怀疑林奇综合征的儿童基于家庭背景，因为早期发现可能是改善癌症结果的关键。
Lynch syndrome is an autosomal dominant condition caused by a heterozygous variation in one of the DNA mismatch repair (MMR) genes that pre-disposes individuals to early onset colorectal cancers and other malignancies. Lynch syndrome is generally considered an adult-onset disorder, with malignancy rarely manifesting in childhood. Colorectal cancer is extremely rare in children, but hereditary syndromes including Lynch syndrome are an important cause. We aimed to assess the frequency and clinical course of children with Lynch syndrome associated pediatric colorectal cancers at our institution over the last 20 years.In this retrospective study, we describe four cases of children with Lynch syndrome-associated colorectal cancers age 14–17 years at diagnosis. All patients were diagnosed with Lynch syndrome after diagnosis, despite three of them having family histories consistent with Lynch syndrome.This series highlights a rare but important cause of pediatric malignancy and points to the need for early education on colorectal cancer warning symptoms and open discussion about this condition in affected families. It also illustrates the need for a thorough family history and a high level of suspicion for Lynch syndrome in children based on family background, as early detection may be key to improving cancer outcomes.