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基于人群的微卫星不稳定性在≤50 岁患者中的林奇综合征筛查:在结肠手术前的患病率、检测决定因素和结果可用性。

Population-Based Lynch Syndrome Screening by Microsatellite Instability in Patients ≤50: Prevalence, Testing Determinants, and Result Availability Prior to Colon Surgery.

机构信息

Division of Gastroenterology, Tulane University School of Medicine, New Orleans, Louisiana, USA.

Louisiana Tumor Registry, Epidemiology Program, LSU Health Sciences Center School of Public Health, New Orleans, Louisiana, USA.

出版信息

Am J Gastroenterol. 2015 Jul;110(7):948-55. doi: 10.1038/ajg.2014.417. Epub 2015 Jan 20.

DOI:10.1038/ajg.2014.417
PMID:25601013
Abstract

OBJECTIVES

As there are no US population-based studies examining Lynch syndrome (LS) screening frequency by microsatellite instability (MSI) and immunohistochemistry (IHC), we seek to quantitate statewide rates in patients aged ≤50 years using data from a Centers for Disease Control and Prevention-funded Comparative Effectiveness Research (CER) project and identify factors associated with testing. Screening rates in this young, high-risk population may provide a best-case scenario as older patients, potentially deemed lower risk, may undergo testing less frequently. We also seek to determine how frequently MSI/IHC results are available preoperatively, as this may assist with decisions regarding colonic resection extent.

METHODS

Data from all Louisiana colorectal cancer (CRC) patients aged ≤50 years diagnosed in 2011 were obtained from the Louisiana Tumor Registry CER project. Registry researchers and physicians analyzed data, including pathology and MSI/IHC.

RESULTS

Of the 2,427 statewide all-age CRC patients, there were 274 patients aged ≤50 years, representing health care at 61 distinct facilities. MSI and/or IHC were performed in 23.0% of patients. Testing-associated factors included CRC family history (P<0.0045), urban location (P<0.0370), and care at comprehensive cancer centers (P<0.0020) but not synchronous/metachronous CRC or MSI-like histology. Public hospital screening was disproportionately low (P<0.0217). Of those tested, MSI and/or IHC was abnormal in 21.7%. Of those with abnormal IHC, staining patterns were consistent with LS in 87.5%. MSI/IHC results were available preoperatively in 16.9% of cases.

CONCLUSIONS

Despite frequently abnormal MSI/IHC results, LS screening in young, high-risk patients is low. Provider education and disparities in access to specialized services, particularly in underserved populations, are possible contributors. MSI/IHC results are infrequently available preoperatively.

摘要

目的

由于美国没有基于人群的研究,通过微卫星不稳定性(MSI)和免疫组织化学(IHC)来检查林奇综合征(LS)的筛查频率,因此我们试图使用疾病控制与预防中心(CDC)资助的一项比较有效性研究(CER)项目的数据,量化全州范围内≤50 岁患者的筛查率,并确定与检测相关的因素。在这个年轻的高危人群中,筛查率可能提供了最佳情况,因为年龄较大的患者,可能被认为风险较低,可能接受的检测频率较低。我们还试图确定 MSI/IHC 结果在术前获得的频率,因为这可能有助于确定结肠切除范围的决策。

方法

从路易斯安那州肿瘤登记处 CER 项目中获取了所有 2011 年诊断为≤50 岁的路易斯安那州结直肠癌(CRC)患者的数据。登记研究人员和医生分析了数据,包括病理学和 MSI/IHC。

结果

在全州所有年龄的 2427 例 CRC 患者中,有 274 例≤50 岁,代表了 61 个不同医疗机构的医疗保健。23.0%的患者进行了 MSI 和/或 IHC 检测。检测相关因素包括 CRC 家族史(P<0.0045)、城市位置(P<0.0370)和综合癌症中心的治疗(P<0.0020),但不包括同步/异时性 CRC 或 MSI 样组织学。公立医院的筛查比例过低(P<0.0217)。在接受检测的患者中,MSI 和/或 IHC 异常率为 21.7%。在 IHC 异常的患者中,染色模式与 LS 一致的比例为 87.5%。16.9%的病例术前获得了 MSI/IHC 结果。

结论

尽管 MSI/IHC 结果经常异常,但年轻高危患者的 LS 筛查率较低。提供者教育和获得专门服务的机会存在差异,特别是在服务不足的人群中,这可能是导致这种情况的原因。MSI/IHC 结果术前很少获得。

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Is it time to embrace telephone genetic counseling in the oncology setting?是时候在肿瘤学环境中采用电话遗传咨询了吗?
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The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer.使用一组与结直肠癌相关的18个基因,对全国范围内的年轻结直肠癌患者队列进行致病性或可能致病性种系变异的患病率研究。
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Uptake of Genetic Testing Among Patients with Cancer At Risk for Lynch Syndrome in the National Health Interview Survey.癌症患者林奇综合征风险人群中基因检测的采用情况。在全国健康访谈调查中。
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Risks of primary extracolonic cancers following colorectal cancer in lynch syndrome.林奇综合征患者结直肠癌后发生原发性结外癌症的风险。
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