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Increased prevalence of Barrett's esophagus in patients with MUTYH-associated polyposis (MAP).
Familial Cancer ( IF 2.2 ) Pub Date : 2020-02-22 , DOI: 10.1007/s10689-020-00162-9
Ceranza G Daans 1, 2, 3 , Zeinab Ghorbanoghli 4, 5 , Mary E Velthuizen 6 , Hans F A Vasen 4, 5 , George J A Offerhaus 7 , Miangela M Lacle 7 , Peter D Siersema 8 , Margreet G E M Ausems 5 , Jurjen J Boonstra 5
Affiliation  

Barrett’s oesophagus (BE) has been associated with an increased risk of both colorectal adenomas and colorectal cancer. A recent investigation reported a high frequency of BE in patients with adenomatous polyposis coli (APC)-associated polyposis (FAP). The aim of the present study is to evaluate the prevalence of BE in a large cohort of patients with MUTYH-associated polyposis (MAP) and APC-associated adenomatous polyposis. Patients with a genetically confirmed diagnosis of familial adenomatous polyposis (FAP) or MAP were selected and upper gastrointestinal (GI) endoscopy reports, pathology reports of upper GI biopsies were reviewed to determine the prevalence of BE in these patients. Histologically confirmed BE was found in 7 (9.7%) of 72 patients with MAP. The mean age of diagnosis was 60.2 years (range 54.1–72.4 years). Two patients initially diagnosed with low grade dysplasia showed fast progression into high grade dysplasia and esophageal cancer, respectively. Only 4 (1.4%) of 365 patients with FAP were found to have pathologically confirmed BE. The prevalence of BE in patients with MAP is much higher than reported in the general population. We recommend that upper GI surveillance of patients with MAP should not only focus on the detection of gastric and duodenal adenomas but also on the presence of BE.

中文翻译:

MUTYH相关性息肉病(MAP)患者的Barrett食管患病率增加。

巴雷特食管(BE)与大肠腺瘤和大肠癌的风险增加有关。最近的一项研究报道,患有腺瘤性息肉病(APC)相关性息肉病(FAP)的患者发生BE的频率很高。本研究的目的是评估MUTYH相关性息肉病(MAP)和APC患者的大量队列中的BE患病率相关的腺瘤性息肉病。选择经遗传学确诊为家族性腺瘤性息肉病(FAP)或MAP的患者,并进行上消化道(GI)内镜检查报告,上消化道活检的病理报告,以确定这些患者的BE患病率。经组织学证实,在72例MAP患者中有7例(9.7%)发现BE。诊断的平均年龄为60.2岁(范围54.1–72.4岁)。最初被诊断为低度不典型增生的两名患者分别快速进展为高度不典型增生和食道癌。365名FAP患者中只有4名(1.4%)被病理证实为BE。MAP患者的BE患病率远高于一般人群。
更新日期:2020-02-22
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