Population-Based Lynch Syndrome Screening by Microsatellite Instability in Patients ≤50: Prevalence, Testing Determinants, and Result Availability Prior to Colon Surgery
Population-Based Lynch Syndrome Screening by Microsatellite Instability in Patients ≤50: Prevalence, Testing Determinants, and Result Availability Prior to Colon Surgery
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通过 ≤50 岁患者的微卫星不稳定性进行基于人群的林奇综合征筛查：结肠手术前的患病率、测试决定因素和结果可用性
DOI：
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发表时间：
2015
影响因子：
9.8
通讯作者：
V. Chen
中科院分区：
文献类型：
--
作者：
J. Karlitz;M. Hsieh;Yong Liu;C. Blanton;B. Schmidt;Milburn J. Jessup;Xiao;V. Chen
目的：由于没有美国基于人群的研究通过微卫星不稳定性（MSI）和免疫组化（IHC）检查Lynch综合征（LS）筛查频率，我们试图使用来自疾病控制和预防中心资助的比较有效性研究（CER）项目的数据定量全州年龄≤50岁患者的发病率，并确定与检测相关的因素。在这个年轻的高风险人群中的筛查率可能提供一个最好的情况，因为老年患者可能被认为风险较低，可能不太频繁地接受检测。我们还试图确定MSI/IHC结果在术前的可用频率，因为这可能有助于结肠切除程度的决策。方法：2011年诊断的所有年龄≤50岁的路易斯安那州结直肠癌（CRC）患者的数据来自路易斯安那州肿瘤登记CER项目。登记研究人员和医生分析了数据，包括病理学和MSI/IHC.Results：在2,427名全州所有年龄段的CRC患者中，有274名患者年龄≤50岁，代表61个不同设施的医疗保健。23.0%的患者进行了MSI和/或IHC。检测相关因素包括CRC家族史（P<0.0045）、城市位置（P<0.0370）和综合癌症中心的护理（P<0.0020），但不包括同步/异时性CRC或MSI样组织学。公立医院筛查不成比例地低（P<0.0217）。在这些测试中，MSI和/或IHC异常的21.7%。在IHC异常的患者中，87.5%的染色模式与LS一致。MSI/IHC结果可在术前16.9%的cases.Conclusions：尽管经常异常MSI/IHC结果，LS筛查年轻，高危患者是低的。提供者的教育和获得专门服务方面的差距，特别是在得不到充分服务的人口中，可能是促成因素。MSI/IHC结果很少在术前获得。
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.
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影响因子：
29.4
作者：
Hampel, H;Stephens, JA;de la Chapelle, A
通讯作者：
de la Chapelle, A
影响因子：
10.3
作者：
Win, Aung Ko;Lindor, Noralane M.;Jenkins, Mark A.
通讯作者：
Jenkins, Mark A.
影响因子：
158.5
作者：
Aaltonen, LA;Salovaara, R;ValKamo, E
通讯作者：
ValKamo, E
遗传性和家族性结肠癌。
影响因子：
29.4
作者：
Jasperson KW;Tuohy TM;Neklason DW;Burt RW
通讯作者：
Burt RW
影响因子：
10.3
作者：
Lochhead, Paul;Kuchiba, Aya;Ogino, Shuji
通讯作者：
Ogino, Shuji