Department of Internal Medicine, Icahn School of Medicine, Mount Sinai Morningside West, New York, NY, USA.
Department of Internal Medicine, Icahn School of Medicine, Mount Sinai Hospital, New York, NY, USA.
Oncologist. 2023 Jun 2;28(6):486-493. doi: 10.1093/oncolo/oyad044.
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.
鉴于种系突变 (gMut) 的发生与个体的癌症家族史无关,美国国家综合癌症网络 (NCCN) 2019 指南建议对胰腺癌 (PC) 患者进行普遍的种系 (GL) 检测。还建议对转移性疾病患者的肿瘤进行分子分析。我们旨在确定本机构的基因检测率、与检测相关的因素以及接受检测的患者的结果。
在 2019 年 6 月至 2021 年 6 月期间,在西奈山卫生系统,对诊断为非内分泌 PC 且就诊次数超过 2 次的患者进行 GL 和体细胞检测的频率检查。还记录了临床病理变量和治疗结果。
共有 149 名患者符合纳入标准。66 名患者 (44%) 接受了 GL 检测:42 名患者 (28%) 在诊断时接受了检测,其余患者在治疗后期接受了检测。GL 检测的比例逐年增加:2019 年为 33%,2020 年为 44%,2021 年为 61%。癌症家族史是决定进行 GL 检测的唯一变量。8 名患者 (接受检测患者的 12%) 存在病理性 gMut:BRCA1 (1)、BRCA2 (1)、ATM (2)、PALB2 (2)、NTHL1 (1)、CHEK2 和 APC 各 1 种。无 gBRCA 患者接受 PARP 抑制剂治疗,除 1 例外,其余患者均接受一线铂类药物治疗。98 名患者 (65.7%) 进行了分子肿瘤检测 (66.7%的转移性患者)。2 名 BRCA2 体细胞突变患者未进行 GL 检测。3 名患者接受了靶向治疗。
基于提供者酌定的基因检测导致 GL 检测率较低。遗传检测的早期结果可能会影响治疗决策和疾病的发展轨迹。需要采取措施增加检测,但必须在现实临床环境中可行。