分析专业协会《结直肠息肉病综合征筛查指南》在一家机构的应用情况。

IF 7.1 1区 医学 Q1 PATHOLOGY Modern Pathology Pub Date : 2024-07-16 DOI:10.1016/j.modpat.2024.100567
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引用次数: 0

摘要

一些专业协会的指南建议对终生腺瘤性息肉≥10个的患者进行结直肠息肉病综合征种系基因检测。本研究评估了根据指南建议进行种系检测时,与基因检测决定和结果相关的因素。手术档案显示,有145名患者被建议根据指南进行种系遗传息肉病检测。我们收集了人口统计学数据和病史,以研究与检测决定和结果的相关性。90/145名患者被要求进行种系遗传检测,其中有较多终生腺瘤的年轻患者被要求进行检测。在完成检测的 12/53 名患者中检测到了致病基因的改变。年龄较小、终生腺瘤数量较多与检测到的种系基因改变无关。事实上,与无基因改变的患者相比,有致病性种系基因改变的患者的中位年龄更高,终生腺瘤数量更少。在 12 名有致病性种系基因突变的患者中,有一半不是非西班牙裔白人,尽管非西班牙裔白人患者占被检测者的 75.5%。这项研究支持将 10 个腺瘤性息肉作为建议进行种系遗传性息肉病检测的阈值,因为在相当大比例(>20%)的受检患者中检测到了基因突变。虽然年龄越小、终生腺瘤数量越多,接受检测的可能性就越大,但没有发现证据支持这些额外因素在检测决策中的作用。
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Analysis of the Application of Professional Society Screening Guidelines for Colorectal Polyposis Syndromes at a Single Institution

Several professional society guidelines suggest germline genetic testing for colorectal polyposis syndromes in patients with ≥10 lifetime adenomatous polyps. This study evaluated the factors associated with genetic testing decisions and outcomes when germline testing was recommended per guidelines. Surgical archives revealed 145 patients with a recommendation for germline genetic polyposis testing based on guidelines. Demographic data and medical history were collected to examine their association with testing decisions and results. Germline genetic testing was ordered in 90 out of 145 patients and was ordered in younger patients with more lifetime adenomas. Pathogenic alterations were detected in 12 out of 53 patients who completed testing. Younger ages and higher numbers of lifetime adenomas were not associated with the detection of germline genetic alterations. In fact, patients with a pathogenic germline alteration had higher median ages and fewer lifetime adenomas than those without an alteration. Half of the 12 patients with a pathogenic germline mutation were not White non-Hispanic, although White non-Hispanic patients comprised 75.5% of those tested. This study supports the 10 adenomatous polyp threshold for recommending germline genetic polyposis testing, as an alteration was detected in a sizable proportion (>20%) of patients tested. Although a younger age and a higher number of lifetime adenomas were associated with an increased likelihood of ordered tests, no evidence was found to support these additional factors in testing decisions.

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来源期刊
Modern Pathology
Modern Pathology 医学-病理学
CiteScore
14.30
自引率
2.70%
发文量
174
审稿时长
18 days
期刊介绍: Modern Pathology, an international journal under the ownership of The United States & Canadian Academy of Pathology (USCAP), serves as an authoritative platform for publishing top-tier clinical and translational research studies in pathology. Original manuscripts are the primary focus of Modern Pathology, complemented by impactful editorials, reviews, and practice guidelines covering all facets of precision diagnostics in human pathology. The journal's scope includes advancements in molecular diagnostics and genomic classifications of diseases, breakthroughs in immune-oncology, computational science, applied bioinformatics, and digital pathology.
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