Department of General Surgery, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, OH.
Department of General Surgery, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, OH; Department of Benign Gynecology, Women's Health Institute, Cleveland Clinic, Cleveland, OH.
Surgery. 2024 Mar;175(3):712-717. doi: 10.1016/j.surg.2023.08.043. Epub 2023 Oct 15.
Time to treatment has been identified as a quality metric, with longer time to treatment associated with poorer outcomes. Genetic evaluation is an integral part of treatment counseling for patients with breast cancer. With expanding indications for genetic testing and consideration of expansion of genetic testing to all patients with a personal history of breast cancer, this study aims to evaluate the effect of genetic evaluation on the time interval from initial surgical visit to surgery.
A retrospective review of patients undergoing upfront surgery for stage 0-3 breast cancer from June 2022 to December 2022. Patient demographics, treatment characteristics, National Comprehensive Cancer Network criteria for genetic testing, and results were obtained.
The study included 492 patients (489 females). Eighty-one (16.2%) were ≤50 years of age at diagnosis. In total, 281 patients (57.1%) met National Comprehensive Cancer Network criteria for genetic testing and 199 consulted with a genetic counselor (72.4%). Seventy-six patients (27.6%) not meeting National Comprehensive Cancer Network criteria pursued genetic counseling. In total, 218 patients (79.3%) referred for genetic counseling completed testing. Mean turnaround time to genetic testing result was 11 days (range, 6-66 days). Twenty-six patients (11.9%) had a pathogenic or likely pathogenic variant. Twenty-four of these patients met National Comprehensive Cancer Network testing criteria (92.3%) and 2 did not (7.7%). The time to treatment for patients undergoing genetic testing was 33 vs 34 days in those without testing (P = .45). Three patients (11.5%) with pathogenic or likely pathogenic variants altered their initial surgical plan due to their genetic testing results. Seven patients with pathogenic or likely pathogenic variant results returning postoperatively did not undergo additional surgery.
Hereditary breast cancer evaluation and genetic testing did not appear to delay time to treatment for patients with breast cancer in our study cohort.
治疗时间已被确定为一个质量指标，治疗时间越长，结果越差。基因评估是乳腺癌患者治疗咨询的一个组成部分。随着基因检测适应证的扩大，以及考虑将基因检测扩展到所有有乳腺癌个人病史的患者，本研究旨在评估基因评估对从初始手术就诊到手术的时间间隔的影响。
回顾性分析 2022 年 6 月至 2022 年 12 月期间因 0-3 期乳腺癌行 upfront 手术的患者。获取患者的人口统计学特征、治疗特征、国家综合癌症网络（National Comprehensive Cancer Network，NCCN）基因检测标准和结果。
该研究纳入 492 例患者（489 例女性）。诊断时≤50 岁的患者有 81 例（16.2%）。共有 281 例（57.1%）患者符合 NCCN 基因检测标准，199 例（72.4%）患者咨询了遗传咨询师。76 例（27.6%）不符合 NCCN 标准的患者选择咨询遗传咨询师。共有 218 例（79.3%）咨询遗传咨询师的患者完成了检测。基因检测结果的平均周转时间为 11 天（范围 6-66 天）。26 例（11.9%）患者携带致病性或可能致病性变异。其中 24 例患者符合 NCCN 检测标准（92.3%），2 例患者不符合（7.7%）。接受基因检测的患者的治疗时间为 33 天，未接受检测的患者的治疗时间为 34 天（P=0.45）。3 例（11.5%）携带致病性或可能致病性变异的患者因基因检测结果改变了初始手术计划。7 例术后携带致病性或可能致病性变异结果的患者未接受进一步手术。
在本研究队列中，遗传性乳腺癌评估和基因检测似乎并未延迟乳腺癌患者的治疗时间。
