Does routine colonoscopy help diagnose familial adenomatous polyposis in patients presenting with desmoid tumors but no gastrointestinal symptoms?
Does routine colonoscopy help diagnose familial adenomatous polyposis in patients presenting with desmoid tumors but no gastrointestinal symptoms?
复制标题
常规结肠镜检查是否有助于诊断患有硬纤维瘤但无胃肠道症状的患者的家族性腺瘤性息肉病？
DOI：
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发表时间：
2016
影响因子：
2.8
通讯作者：
Sung
中科院分区：
文献类型：
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作者：
R. Shin;H. Cho;Duck;Soyeon Ahn;Myong Hoon Ihn;H. Park;Heung;Sung
目的：硬纤维瘤（desmoid tumor， DT）是一种罕见的肌纤维母细胞增生性肿瘤，但家族性腺瘤性息肉病（familial adenomatous polyposis， FAP）患者可发生高达26%的肿瘤。因此，DT可能是晚期恶性肿瘤发展前FAP的肠外表现。本研究的目的是确定DT患者中息肉的发生率，并探讨结肠镜检查对无胃肠道症状的DT患者FAP的诊断价值。材料和方法采用临床数据仓库（CDW）系统对诊断为DT的患者进行回顾性分析。收集临床资料，包括肿瘤位置、治疗类型和结肠镜检查结果。结果65例患者在研究期间被诊断为DT；10例患者在DT诊断前接受结肠镜检查，20例患者在DT诊断后接受结肠镜检查。诊断DT的平均年龄为41.9±16.7岁（范围17-74岁）。大多数肿瘤发生在腹外（n = 24, 80.0%），较少发生在腹内（n = 4, 13.3%）或腹壁（n = 2, 6.7%）。结肠镜检查结果显示11例（36.6%）患者有1个或2个管状腺瘤，但均无结直肠息肉病或结直肠癌。结论本组患者均无结直肠息肉病。对于无胃肠道症状的DT患者，常规结肠镜检查FAP的诊断率较低。
PurposeDesmoid tumor (DT) is a rare myofibroblastic proliferative neoplasm, but can occur in up to 26% of patients with familial adenomatous polyposis (FAP). Therefore, DT may be an extraintestinal manifestation of FAP that precedes the development of advanced malignancies. The aim of this study was to identify the incidence of polyps in DT patients and investigate value of colonoscopy for diagnosis of FAP in DT patients without gastrointestinal symptoms.Materials and methodsThe records of patients diagnosed with DT were retrospectively reviewed using the clinical data warehouse (CDW) system. Clinical data, including location of tumor, type(s) of treatment, and colonoscopic findings, were collected.ResultsSixty-five patients were diagnosed with DT during the study period; 10 patients received colonoscopies before diagnosis of DT, and 20 patients received colonoscopies after diagnosis of DT. The mean age at diagnosis of DT was 41.9 ± 16.7 years old (range 17–74). Most tumors were extra-abdominal (n = 24, 80.0%), and fewer were intra-abdominal (n = 4, 13.3%) or in an abdominal wall (n = 2, 6.7%). The colonoscopy results revealed one or two tubular adenomas in 11 patients (36.6%), although none of the patients had colorectal polyposis or colorectal cancer.ConclusionNone of the patients in our study population had colorectal polyposis. Routine colonoscopy of DT patients without gastrointestinal symptoms seems to have low diagnostic yield for detection of FAP.