Citarella Fabrizio, Takada Kazuki, Cascetta Priscilla, Crucitti Pierfilippo, Petti Roberta, Vincenzi Bruno, Tonini Giuseppe, Venanzi Francesco M, Bulotta Alessandra, Oresti Sara, Greco Carlo, Ramella Sara, Crinò Lucio, Delmonte Angelo, Ferrara Roberto, Di Maio Massimo, Gurrieri Fiorella, Cortellini Alessio
Operative Research Unit of Medical Oncology, Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo, 200, 00128, Rome, Italy.
Department of Medicine and Surgery, Universitá Campus Bio-Medico Di Roma, Via Alvaro del Portillo, 21, 00128, Rome, Italy.
J Transl Med. 2024 Jul 31;22(1):714. doi: 10.1186/s12967-024-05538-4.
Compared to other malignancies, few studies have investigated the role of family history of cancer (FHC) in patients with lung cancer, yielding largely heterogeneous results. We performed a systematic literature review in accordance with PRISMA guidelines, searching the PubMed and Scopus databases from their inception to November 25, 2023, to identify studies reporting on the role of FHC in patients with lung cancer. A total of 53 articles were included, most with a retrospective design and encompassing a variety of geographical areas and ethnicities.Thirty studies (56.6%) assessed patients with non-small cell lung cancer (NSCLC), while 17 studies (32.1%) assessed patients with mixed histologies. Overall, the rates of FHC ranged from 8.3 to 68.9%, and the rates of family history of lung cancer ranged from 2 to 46.8%. Twenty-seven studies investigated FHC as a potential risk factor for lung cancer, with more than half reporting an increased risk for subjects with FHC. Five studies reported on the potential role of FHC in determining clinical outcomes, and twelve studies examined the relationship between FHC and germline mutations. Notably, only one study reported a significantly increased rate of germline mutations, including ATM, BRCA2, and TP53, for patients with a family history of lung cancer compared to those without, but both groups had a low prevalence of mutations (< 1%).The FAHIC-Lung (NCT06196424) is the first cross-sectional/prospective study specifically developed to identify FHC patterns and within-family clusters of other risk factors, including smoking, to guide patients with NSCLC to systematic genetic counseling. Acknowledging the largely heterogeneous results of our systematic review and considering the clinical implications of detecting pathogenic germline variants (PGVs), the FAHIC-lung study aims to identify patients potentially enriched with PGVs/likely PGVs to direct them to germline screening outside of the research setting.
与其他恶性肿瘤相比,很少有研究调查癌症家族史(FHC)在肺癌患者中的作用,结果差异很大。我们按照PRISMA指南进行了系统的文献综述,检索了PubMed和Scopus数据库自创建至2023年11月25日的文献,以确定报告FHC在肺癌患者中作用的研究。共纳入53篇文章,大多数为回顾性设计,涵盖了不同的地理区域和种族。30项研究(56.6%)评估了非小细胞肺癌(NSCLC)患者,17项研究(32.1%)评估了组织学类型混合的患者。总体而言,FHC的发生率在8.3%至68.9%之间,肺癌家族史的发生率在2%至46.8%之间。27项研究将FHC作为肺癌的潜在危险因素进行调查,超过一半的研究报告FHC患者的风险增加。5项研究报告了FHC在确定临床结局方面的潜在作用,12项研究探讨了FHC与种系突变之间的关系。值得注意的是,只有一项研究报告称,有肺癌家族史的患者与无家族史的患者相比,种系突变(包括ATM、BRCA2和TP53)的发生率显著增加,但两组的突变患病率都很低(<1%)。FAHIC-Lung(NCT06196424)是第一项专门设计的横断面/前瞻性研究,旨在识别FHC模式以及包括吸烟在内的其他危险因素的家族聚集情况,以指导NSCLC患者接受系统的遗传咨询。鉴于我们系统综述的结果差异很大,并考虑到检测致病性种系变异(PGV)的临床意义,FAHIC-lung研究旨在识别可能富集PGV/可能的PGV的患者,以便在研究环境之外指导他们进行种系筛查。