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ATM、CHEK2、PALB2基因可遗传突变可能增加乳腺癌发病风险。不过，这些突变对于指导治疗策略和预后的临床作用尚不明确。
2020年9月29日，美国乳腺外科医师学会和美国肿瘤外科学会《肿瘤外科学报》在线发表德克萨斯大学西南医学中心、德克萨斯大学西南医学院、帕克兰纪念医院、西蒙斯综合癌症中心的研究报告，对ATM、CHEK2或PALB2突变乳腺癌患者的临床病理特征和结局进行了分析。
该双中心病例对照回顾研究对2007～2017年德克萨斯大学西南医学中心和帕克兰纪念医院145例（144例女性、1例男性）早期乳腺癌患者进行回顾分析，其中74例突变阳性（24例ATM、26例CHEK2、24例PALB2），其余71例突变阴性为随机选择的匹配队列。数据采集包括人口统计学、组织病理学、治疗方法、临床结局。
结果，突变阳性患者与突变阴性患者相比：
乳腺癌家族病史比例较高：79.7%比52.9%（P肿瘤大于两厘米比例较高：63.1%比42.3%（P=0.015）
此前知道与不知道突变状态的患者相比：
乳房根治切除术比例较高：74.5%比25.5%（P乳房预防切除术比例较高：65.5%比34.5%（P
突变阳性患者与突变阴性患者相比，未校正复发率较高（24.3%比8.5%，P=0.01），经多因素比例风险回归分析校正复发率相似。
因此，该研究结果表明，ATM、CHEK2或PALB2突变阳性乳腺癌患者肿瘤较大、乳房根治切除手术和预防切除比例较高。突变状态对于复发并无预测作用，但是乳房根治切除手术可能减少复发，故有必要开展进一步大样本研究证实这些结果。
Ann Surg Oncol. 2020 Sep 29. Online ahead of print.Clinicopathological Features and Outcomes in Individuals with Breast Cancer and ATM, CHEK2, or PALB2 Mutations.
Colin Bergstrom, Colton Pence, Jordan Berg, Natalia Partain, Navid Sadeghi, Caitlin Mauer, Sara Pirzadeh-Miller, Ang Gao, Hsiao Li, Nisha Unni, Samira Syed.
University of Texas Southwestern Medical Center, Dallas, TX, USA; University of Texas Southwestern Medical School, Dallas, TX, USA; Parkland Health and Hospital System, Dallas, TX, USA; Simmons Comprehensive Cancer Center, Dallas, TX, USA.
INTRODUCTION: The moderate-penetrance germline mutations ATM, CHEK2, and PALB2 are implicated in an increased risk of the development of breast cancer. Whether these mutations provide clinical utility to guide treatment strategies and prognosis remains unknown.
METHODS: A retrospective case-control study from a tertiary institution compared patients with stage 0-III breast cancer, and positive for ATM, CHEK2, or PALB2 mutations, with a matched cohort selected by randomization and negative for mutations. Data acquisition included demographics, histopathologic, treatment, and clinical outcome variables.
RESULTS: A total of 145 patients with breast cancer (144 female and 1 male) were analyzed—74 mutation-positive patients (24 ATM, 26 CHEK2, 24 PALB2) and 71 mutation-negative patients. Mutation-positive patients compared with mutation-negative patients had increased family history of breast cancer (79.7 vs. 52.9%, p2.0 cm (63.1% vs. 42.3%, p=0.015). Patients with prior knowledge of mutational status were more likely to proceed with total mastectomy and prophylactic mastectomy (74.5% vs. 25.5%, p
CONCLUSIONS: Patients positive for ATM, CHEK2, or PALB2 mutations had increased tumor size and were more likely to undergo extensive surgeries. Mutation status was not predictive of recurrence, although this lack of effect may have been mitigated by lower rates of recurrence in those who pursued total mastectomy. Further studies are needed to confirm these findings.
DOI: 10.1245/s10434-020-09158-2
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发表于 2020-10-1 12:19:47
