Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting
Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting
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DOI：
10.1007/s10689-019-00123-x
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发表时间：
2019-07-01
期刊：
影响因子：
2.2
通讯作者：
Goddard, Katrina A. B.
中科院分区：
文献类型：
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作者：
Clarke, Elizabeth V.;Muessig, Kristin R.;Goddard, Katrina A. B.
结肠直肠癌（CRC）病例的一个子集可归因于林奇综合征（LS），这是一种遗传性CRC。可以对CRC肿瘤进行LS的有效评估，以指导诊断测试。LS诊断的增加允许监测和降低风险，这可以减轻CRC相关负担并预防癌症相关死亡。我们评估了新诊断的成人CRC患者参与LS筛查的情况。一些病例在研究招募（选择性筛选）前进行遗传学评价。未直接转诊的患者随机分配至干预组或对照组（常规治疗）。对照病例观察一年，然后提供LS筛查信息。通过病历对拒绝参与的患者进行随访。在601例CRC病例中，194例（32%）入组本研究并接受LS筛查，43例（7%）作为对照组随访，148例（25%）拒绝参与，216例（36%）不合格[其中63例（10%）接受过既往选择性筛查]。通过干预组和选择性筛查组分别确定了6例和9例LS。总体而言，干预组（3/6，50%）与选择性筛查组（2/9，22%）相比，鉴定出更高比例的PMS 2变体（无统计学显著性）。分别有88%和23%的干预组和对照组患者接受了LS筛查。没有发现对照组患者有LS。需要基于系统的方法来确保我们充分识别LS案例。该项目的LS病例比例为新诊断的CRC病例的4%，与其他项目相似。
A subset of colorectal cancer (CRC) cases are attributable to Lynch syndrome (LS), a hereditary form of CRC. Effective evaluation for LS can be done on CRC tumors to guide diagnostic testing. Increased diagnosis of LS allows for surveillance and risk reduction, which can mitigate CRC-related burden and prevent cancer-related deaths. We evaluated participation in LS screening among newly diagnosed adult CRC patients. Some cases were referred for genetics evaluation prior to study recruitment (selective screening). Those not referred directly were randomized to the intervention or control (usual care) arms. Control cases were observed for one year, then given information about LS screening. Patients who declined participation were followed through the medical record. Of 601 cases of CRC, 194 (32%) enrolled in our study and were offered LS screening, 43 (7%) were followed as a control group, 148 (25%) declined participation and 216 (36%) were ineligible [63 (10%) of which received prior selective screening]. Six and nine cases of LS were identified through the intervention and selective screening groups, respectively. Overall, a higher proportion of PMS2 variants were identified in the intervention (3/6, 50%) versus selective screening groups (2/9, 22%) (not statistically significant). Eighty-eight percent and 23% of intervention and control patients, respectively, received LS screening. No control patients were found to have LS. Systems-based approaches are needed to ensure we fully identify LS cases. The proportion of LS cases from this program was 4% of newly diagnosed cases of CRC, similar to other programs.