Paric Ana, Karan-Krizanac Dragana, Saric Ivan, Vranic Semir
Department of Oncology, University Hospital Center Mostar, Mostar, Bosnia and Herzegovina.
Department of Pathology and Cytopathology, University Hospital Center Mostar, Mostar, Bosnia and Herzegovina.
Case Rep Oncol. 2023 Sep 4;16(1):803-810. doi: 10.1159/000533377. eCollection 2023 Jan-Dec.
Colorectal cancer (CRC) is the third leading cause of mortality worldwide. The Food and Drug Administration recently designated pembrolizumab, an immune checkpoint inhibitor (ICI) against a programmed death-1 receptor, as a breakthrough drug for the treatment of patients with mCRC whose tumors have deficient mismatch-repair gene expression (as evidenced by microsatellite instability-high) and patients with solid tumors with a high tumor mutational burden with ≥10 mutations/megabase. We present a patient with metastatic CRC having renal and adrenal gland metastases. Comprehensive molecular profiling performed on a site of metastatic CRC in the kidney revealed multiple genomic alterations characteristic of CRC and rare chromosome 9p24.1 amplification, resulting in a co-amplification of the , and genes. Although this genomic alteration may predict the response to ICI, the lack of pembrolizumab prevented the patient from receiving targeted treatment and succumbing to the disease.
结直肠癌(CRC)是全球第三大致死原因。美国食品药品监督管理局最近指定派姆单抗(一种针对程序性死亡-1受体的免疫检查点抑制剂)作为突破性药物,用于治疗微卫星高度不稳定所证实的错配修复基因表达缺陷的转移性结直肠癌患者,以及肿瘤突变负荷高(≥10个突变/兆碱基)的实体瘤患者。我们报告一名患有肾和肾上腺转移的转移性结直肠癌患者。对肾内转移性结直肠癌部位进行的综合分子分析显示,存在CRC特征性的多种基因组改变以及罕见的9号染色体p24.1扩增,导致 、 和 基因共扩增。尽管这种基因组改变可能预测对免疫检查点抑制剂的反应,但派姆单抗的缺乏使患者无法接受靶向治疗,最终死于该疾病。