研究动态
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在胰腺癌中遵循NCCN基因检测指南及其对治疗的影响。

Adherence to NCCN Genetic Testing Guidelines in Pancreatic Cancer and Impact on Treatment.

发表日期:2023 Mar 18
作者: Fionnuala Crowley, Sonal Gandhi, Michelle Rudshteyn, Mantej Sehmbhi, Deirdre J Cohen
来源: MOLECULAR & CELLULAR PROTEOMICS

摘要:

国家综合癌症网络(NCCN)2019年指南建议对胰腺癌(PC)患者进行全面的生殖细胞系列(GL)检测,因为不考虑癌症家族史的个体可能会以相似的发生率存在生殖系列突变(gMut)发生。对转移性疾病患者的肿瘤分子分析也是推荐的。我们的目的是确定我们机构进行遗传测试的比率、与测试相关的因素以及接受测试的患者的结果。我们检查了在2019年6月至2021年6月间,接受过2次以上访问的非内分泌性PC诊断患者中GL和体细胞检测的频率,并记录了临床病理学变量和治疗结果。总共有149名患者符合包含标准。其中66名患者(44%)接受了GL测试:42人(28%)在诊断时进行了测试,其余在治疗过程中进行了测试。GL测试的比率每年都在增加: 2019年为33%,2020年为44%,2021年为61%。癌症家族史是决定是否进行GL检测的唯一变量。8名患者(测试患者的12%)有病理gMut:BRCA1(1)、BRCA2(1)、ATM(2)、PALB2(2)、NTHL1(1)、CHEK2和APC(1)。除1名gBRCA患者外,均未接受PARP抑制剂,其余所有患者均接受了一线铂类治疗。98名患者(65.7%)进行了分子肿瘤检测(转移患者的66.7%)。2名持有BRCA2体细胞突变的患者没有进行GL测试。3名患者接受了靶向治疗。基于提供者的谨慎考虑进行的遗传测试会导致GL测试的低比率。遗传测试的早期结果可以对治疗决策和疾病轨迹产生影响。需要采取措施增加测试,但必须在现实世界的诊所环境中可行。©作者(2023) 。由牛津大学出版社出版。
National Comprehensive Cancer Network (NCCN) 2019 Guidelines recommend universal germline (GL) testing for patients (pts) with pancreatic cancer (PC), given germline mutations (gMut) can occur at a similar rate irrespective of an individual's family history of cancer. Molecular analysis of tumors in those with metastatic disease is also recommended. We aimed to determine rates of genetic testing at our institution, factors associated with testing, and outcomes of those tested.Frequency of GL and somatic testing was examined in pts diagnosed with non-endocrine PC, with >2 visits between June 2019 and June 2021 at the Mount Sinai Health System. The clinicopathological variables and treatment outcomes were also recorded.A total of 149 pts met the inclusion criteria. Sixty-six pts (44%) underwent GL testing: 42 (28%) at time of diagnosis with the remainder later in treatment. The rate of GL testing increased every year: 33% (2019), 44% (2020), and 61% (2021). A family history of cancer was the only variable associated with the decision to perform GL testing. Eight pts (12% of pts tested) had pathological gMut: BRCA1 (1), BRCA2 (1), ATM (2), PALB2 (2), NTHL1 (1), both CHEK2 and APC (1). Neither gBRCA pt received a PARP inhibitor, all except one received first-line platinum. Ninety-eight pts (65.7%) had molecular tumor testing (66.7% of patients with metastases). Two pts with BRCA2 somatic mut did not have GL testing. Three pts received targeted therapies.Genetic testing based on provider discretion results in low rates of GL testing. Early results of genetic testing can have an impact on treatment decisions and trajectory of disease. Initiatives to increase testing are needed but must be feasible in real-world clinic settings.© The Author(s) 2023. Published by Oxford University Press.