Schrock-Kelley Suzanne, Souter Vivienne, Hall Michael J, Sha Youbao, Sengupta Urmi, ElNaggar Adam C, Liu Minetta C, Weitzel Jeffrey N
Natera Inc, Austin, TX, USA.
Department of Clinical Genetics, Cancer Prevention and Control Program, Fox Chase Cancer Center, Philadelphia, PA, USA.
Commun Med (Lond). 2024 Sep 30;4(1):185. doi: 10.1038/s43856-024-00608-6.
Approximately 15% of colorectal cancers (CRCs) are associated with germline mutations. There is increasing adoption of DNA-based assays for molecular residual disease (MRD) and growing evidence supporting its clinical utility, particularly for CRC by oncologists in the U.S. We assessed the uptake of germline multi-gene panel testing (MGPT) for hereditary cancer in CRC patients receiving MRD analyses in community oncology settings.
This retrospective study included 80 patients receiving care for CRC through community oncology practices who were referred for MRD testing at a commercial laboratory (January-March 2022). Clinical data, including test requisition forms, pathology reports, and clinical notes were reviewed. Documentation of tumor microsatellite instability and/or immunohistochemical (IHC) testing for mismatch repair (MMR) deficiency, age of CRC diagnosis, family history of cancer, and any order or recommendation for MGPT were assessed.
Overall, 5/80 (6.3%) patients in the study have documented germline MGPT; 65/80 (81.3%) patients have documented MMR testing of their colorectal tumor. Among the 5 cases with abnormal MMR IHC, 2 have MGPT. Of the 33 patients meeting the 2021 National Comprehensive Cancer Network (NCCN) criteria for genetic/familial high-risk assessment, only 2 have MGPT.
Our real-world data suggest that many CRC patients receiving MRD testing and meeting NCCN (v. 2021) criteria for germline MGPT may not be receiving evaluation beyond routine MMR status. Process and educational improvements are needed in community health settings to increase access and uptake of germline testing among CRC patients regardless of age at diagnosis or MMR status.
约15%的结直肠癌（CRC）与种系突变相关。基于DNA的分子残留疾病（MRD）检测方法的应用越来越广泛，且越来越多的证据支持其临床实用性，尤其是在美国肿瘤学家对CRC的应用中。我们评估了在社区肿瘤学环境中接受MRD分析的CRC患者中遗传性癌症种系多基因检测（MGPT）的应用情况。
这项回顾性研究纳入了80例通过社区肿瘤学实践接受CRC治疗并在商业实验室接受MRD检测的患者（2022年1月至3月）。回顾了临床数据，包括检测申请单、病理报告和临床记录。评估了肿瘤微卫星不稳定性和/或错配修复（MMR）缺陷的免疫组织化学（IHC）检测记录、CRC诊断年龄、癌症家族史以及MGPT的任何医嘱或建议。
总体而言，研究中的80例患者中有5例（6.3%）有记录的种系MGPT；80例患者中有65例（81.3%）有记录的结直肠肿瘤MMR检测。在5例MMR IHC异常的病例中，2例进行了MGPT。在符合2021年国家综合癌症网络（NCCN）遗传/家族性高风险评估标准的33例患者中，只有2例进行了MGPT。
我们的真实世界数据表明，许多接受MRD检测且符合NCCN（2021版）种系MGPT标准的CRC患者可能未接受除常规MMR状态之外的评估。社区卫生环境需要在流程和教育方面加以改进，以增加CRC患者中种系检测的可及性和应用率，无论其诊断年龄或MMR状态如何。
