PDF(Pubmed)
Abstract：
Here we reported a particular case of MUTYH-associated polyposis (MAP) that had only one rare heterozygous variant, but some particular clinical manifestations contributed to occur in this male patient by only one defective MUTYH allele were worth of further investigation. We reported a case of MAP. It is about a 33-year-old man with chief complaints of hematochezia who had multiple polyps that were found in his colon via colonoscopy. He followed his doctor\'s advice and performed a genetic analysis examination. Germline test was positive for a major heterozygous variant: chr1:45800165 on the MUTYH gene. MUTYH gene sequence analysis confirmed the following heterozygous variant: c.55CT (p.R19X) in exon 2 (ClinVar NM_001128425). Unfortunately, his mother and daughter have the ILK variant according to genetic analysis. However, this variant at the site was not detected in his father. Various types of polyps were found on repeated colonoscopy, which tended to become latent cancerous in the future. This case indicated that awareness of the risk of carcinogenesis of polyps in carriers of monoallelic variants might accordingly increase, and our understanding of the type of genetically related disease will be enhanced by us.
摘要：
在这里，我们报道了一个特殊的MUTYH相关息肉病（MAP），只有一个罕见的杂合变异，但在该男性患者中,一些特殊的临床表现仅由一个缺陷型MUTYH等位基因促成,值得进一步研究.我们报告了一例MAP。这是关于一名33岁的男子，患有便血症，他有多个息肉，通过结肠镜检查在他的结肠中发现。他听从了医生的建议，进行了基因分析检查。种系试验对MUTYH基因上的主要杂合变体chr1：45800165呈阳性。MUTYH基因序列分析证实了以下杂合变体：c.55CT（p。R19X)在外显子2中(ClinVarNM_001128425)。不幸的是,根据基因分析，他的母亲和女儿有ILK变异。然而,在他的父亲中未检测到该站点的这种变体。在反复的结肠镜检查中发现了各种类型的息肉，将来会变成潜在的癌变.该病例表明，单等位基因变异体携带者对息肉致癌风险的认识可能会相应增加，我们对基因相关疾病类型的理解将得到加强。
