Vlessis Katherine, Purington Natasha, Chun Nicolette, Haraldsdottir Sigurdis, Ford James M
See the Notes section for the full list of authors' affiliations.
JNCI Cancer Spectr. 2019 Nov 11;4(1):pkz095. doi: 10.1093/jncics/pkz095. eCollection 2020 Feb.
The National Comprehensive Cancer Network (NCCN) recommends germline testing for pathogenic mutations identified by somatic tumor sequencing. The aim of this study was to explore whether patients at Stanford with somatic mutations were recommended germline testing in accordance with NCCN guidelines.
We retrospectively collected all Stanford patients with mutations found by tumor sequencing. Medical records were reviewed for each patient to identify those recommended germline testing. A multivariable logistic regression model was fit associating baseline characteristics with whether or not a recommendation was made.
Of 164 participants, 51 (31.1%) had no recommendation for germline testing. Of the 97 available germline-testing results, 54 (55.7%) were positive for pathogenic mutations. After adjusting for possible confounders, patients with genitourinary cancer (odds ratio [OR] = 0.03, 95% confidence interval [CI] = 0.00 to 0.03; =.003), lung cancer (OR = 0.04, 95% CI = 0.01 to 0.21; <.001), sarcoma (OR = 0.02, 95% CI = 0.00 to 0.14; <.001), skin cancer (OR = 0.01, 95% CI = 0.98 to 1.03; =.002), or "other" diagnoses (OR = 0.01, 95% CI = 0.00 to 0.16; <.001) were statistically significantly less likely to be recommended germline testing compared with patients with breast or gynecological cancers.
Our study highlights the importance of provider education outside of the oncologic specialties typically associated with -related cancers and continued exploration of referrals to genetics for germline testing on the basis of somatic findings.
美国国立综合癌症网络（NCCN）建议对通过体细胞肿瘤测序鉴定出的致病突变进行胚系检测。本研究的目的是探讨斯坦福大学患有体细胞突变的患者是否按照NCCN指南接受了胚系检测。
我们回顾性收集了所有通过肿瘤测序发现有突变的斯坦福大学患者。对每位患者的病历进行审查，以确定那些被推荐进行胚系检测的患者。建立了一个多变量逻辑回归模型，将基线特征与是否有检测推荐联系起来。
在164名参与者中，51名（31.1%）未被推荐进行胚系检测。在97份可用的胚系检测结果中，54份（55.7%）致病突变呈阳性。在对可能的混杂因素进行调整后，与患有乳腺癌或妇科癌症的患者相比，患有泌尿生殖系统癌症（比值比[OR]=0.03，95%置信区间[CI]=0.00至0.03；P=0.003）、肺癌（OR=0.04，95%CI=0.01至0.21；P<0.001）、肉瘤（OR=0.02，95%CI=0.00至0.14；P<0.001）、皮肤癌（OR=0.01，95%CI=0.98至1.03；P=0.002）或“其他”诊断（OR=0.01，95%CI=从0.00至0.16；P<0.001）的患者接受胚系检测的可能性在统计学上显著降低。
我们的研究强调了在通常与癌症相关的肿瘤学专业之外对医疗服务提供者进行教育的重要性，以及继续探索根据体细胞检测结果将患者转诊至遗传学专业进行胚系检测的必要性。
