Han Yuyi, Rovella Valentina, Smirnov Artem, Buonomo Oreste Claudio, Mauriello Alessandro, Perretta Tommaso, Shi Yufang, Woodmsith Jonathan, Bischof Julia, Melino Gerry, Candi Eleonora, Bernassola Francesca
Department of Experimental Medicine, TOR, University of Rome Tor Vergata, 00133, Rome, Italy.
Department of Ophthalmology, The Affiliated Hospital of Jiangnan University, 214000, Wuxi, China.
Cell Death Discov. 2023 Oct 9;9(1):370. doi: 10.1038/s41420-023-01651-3.
Triple-negative breast cancer (TNBC) is the most aggressive subtype of mammary carcinoma. Here, we describe a case of an 81-year-old female diagnosed with ductal triple negative breast cancer with a germline pathogenic variant in BReast CAncer gene2 (BRCA2). Genetic testing also revealed the presence of four somatic mutations in the ephrin type-A receptor 3 (EphA3), TP53, BRCA1-associated protein (BAP1), and MYB genes. The BRCA2, TP53, and BAP1 gene mutations are highly predictive of a defective homologous recombination repair system and subsequent chromosomal instability in this patient. Coherently, the patient displayed a strong homologous recombination deficiency signature and high tumor mutational burden status, which are generally associated with increased probability of immune neoantigens formation and presentation, and with tumor immunogenicity. Analysis of immune checkpoint revealed high expression of programmed cell death ligand 1 (PD-L1), programmed cell death ligand 2 (PD-L2), programmed death 1 (PD1), and cytotoxic T-lymphocyte-associated protein 4 (CTLA 4), suggesting that the patient might likely benefit from immunotherapies. Altogether, these findings support an unveiled link between BRCA2 inactivation, HR deficiency and increased expression of immune checkpoints in TNBC. This clinical case highlights the importance of screening TNBC patients for genetic mutations and TMB biomarkers in order to predict the potential efficacy of immunotherapy.
三阴性乳腺癌(TNBC)是最具侵袭性的乳腺癌亚型。在此,我们描述了一例81岁女性,被诊断为导管三阴性乳腺癌,其乳腺癌基因2(BRCA2)存在胚系致病性变异。基因检测还发现,在 Ephrin A 型受体 3(EphA3)、TP53、BRCA1 相关蛋白(BAP1)和 MYB 基因中存在四个体细胞突变。BRCA2、TP53 和 BAP1 基因突变高度预示该患者同源重组修复系统存在缺陷及随后的染色体不稳定。相应地,该患者表现出强烈的同源重组缺陷特征和高肿瘤突变负荷状态,这通常与免疫新抗原形成和呈递的概率增加以及肿瘤免疫原性相关。免疫检查点分析显示程序性细胞死亡配体 1(PD-L1)、程序性细胞死亡配体 2(PD-L2)、程序性死亡 1(PD1)和细胞毒性 T 淋巴细胞相关蛋白 4(CTLA 4)高表达,提示该患者可能从免疫治疗中获益。总之,这些发现支持了TNBC中BRCA2失活、HR缺陷与免疫检查点表达增加之间的潜在联系。该临床病例突出了筛查TNBC患者基因突变和TMB生物标志物以预测免疫治疗潜在疗效的重要性。