Berger Barry M, Schroy Paul C, Rosenberg Jennifer L, Lai-Goldman Myla, Eisenberg Marcia, Brown Trisha, Rochelle Robert B, Billings Paul R
Laboratory Medicine, EXACT Sciences Corporation, Marlborough, MA 01752, USA.
Clin Colorectal Cancer. 2006 Jan;5(5):338-43. doi: 10.3816/CCC.2006.n.003.
Stool-based DNA screening for colorectal cancer (CRC) was recently made available for use in daily clinical practice (PreGen-Plus). The main objectives of this study were to examine patients' screening experiences with stool DNA testing in routine clinical practice and the results of diagnostic colonoscopy in patients with an antecedent abnormal stool DNA test.
Patients undergoing stool-based DNA testing were asked to complete and return via mail an anonymous 10-item questionnaire inquiring about their test-related experiences. Colonoscopy findings for all abnormal stool-based DNA tests were ascertained via a telephone survey of the ordering primary care clinicians' offices.
Patient survey responses were collected between August 2003 and July 2005 and reflect an 18% (1211 of 6730) response rate. The majority reported that the specimen collection process was very easy/easy to perform (87%), that they were very likely/likely to use the test again (91%), and that they had never been screened for CRC previously by any method (52%). Tests were ordered predominantly by the patient's primary care clinician (90%), including obstetrician/gynecologist providers. Colonoscopy findings from 69 of 159 patients with an antecedent abnormal stool DNA test screened with PreGen-Plus between August 2003 and July 2004 were available for review. An abnormal stool DNA test correlated with a colonoscopically demonstrable abnormality in 49% of cases (34 of 69). Abnormal findings, including CRC in 3 patients (4%; 1 with Dukes A and 2 with Dukes B disease), single or multiple adenomatous polyps in 23 patients (33%), hyperplastic polyps in 3 patients (4%), and colitis in 5 patients (7%). Colonoscopy was reported as negative in 51% of patients (35 of 69), including 2 cases (3%) with an altered BAT-26 microsatellite caused by a normal polymorphism.
Stool DNA testing provides an acceptable noninvasive alternative for CRC screening that can identify early-stage CRCs and adenomatous polyps in routine clinical practice. Ongoing and broader surveys are indicated to support these early findings.
基于粪便的结直肠癌（CRC）DNA筛查最近已可用于日常临床实践（PreGen-Plus）。本研究的主要目的是调查患者在常规临床实践中进行粪便DNA检测的筛查体验，以及粪便DNA检测结果异常的患者的诊断性结肠镜检查结果。
接受基于粪便的DNA检测的患者被要求通过邮件填写并返回一份包含10个项目的匿名问卷，询问他们与检测相关的体验。通过对开具检测单的初级保健临床医生办公室进行电话调查，确定所有基于粪便的DNA检测异常的结肠镜检查结果。
在2003年8月至2005年7月期间收集了患者的调查问卷回复，回复率为18%（6730例中的1211例）。大多数患者报告说样本采集过程非常容易/易于操作（87%），他们非常可能/可能会再次使用该检测（91%），并且他们以前从未通过任何方法进行过CRC筛查（52%）。检测主要由患者的初级保健临床医生开具（90%），包括产科医生/妇科医生。2003年8月至2004年7月期间，对159例粪便DNA检测结果异常且使用PreGen-Plus进行筛查的患者中的69例进行了结肠镜检查结果审查。在49%的病例（69例中的34例）中，粪便DNA检测异常与结肠镜可显示的异常相关。异常发现包括3例患者患有CRC（4%；1例为Dukes A期，2例为Dukes B期），23例患者有单个或多个腺瘤性息肉（33%），3例患者有增生性息肉（4%），5例患者有结肠炎（7%）。51%的患者（69例中的35例）报告结肠镜检查为阴性，包括2例（3%）因正常多态性导致BAT-26微卫星改变的病例。
粪便DNA检测为CRC筛查提供了一种可接受的非侵入性替代方法，在常规临床实践中可以识别早期CRC和腺瘤性息肉。需要进行持续且更广泛的调查以支持这些早期发现。
