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14,956 例实体瘤中改变的分子特征。

Molecular Landscape of Alterations in 14,956 Solid Tumors.

机构信息

Department of General Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China.

Department of Anesthesiology, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China.

出版信息

Pathol Oncol Res. 2022 Jul 13;28:1610360. doi: 10.3389/pore.2022.1610360. eCollection 2022.

Abstract

abnormalities frequently occur and serve as rationale therapeutic targets in cancer. In this study, clinical and next-generation sequencing data from 14,956 patients across more than 20 tumor types were collected. A total of 406 (2.7%) patients were identified with amplifications, and 303 (2.0%) patients with pathogenic somatic mutations. amplifications fell most frequently in breast (15.9%) and stomach (8.3%) cancers. Somatic SNVs/indels occurred most common in bladder/urinary tract (7.3%) and intestine (6.1%) cancers. The top mutated SNVs/indels were p.Y772_A775dup (25.5%) and p.S310F/Y (19.9%). Significantly higher rates of SNV/indels were found in women compared to men (2.8% vs. 1.5%, < 0.0001). was the most common co-amplification gene with in cancers with a high frequency of amplifications. Patients with amplifications or mutations had higher TMB compared with patients with non- alterations. The study provided the landscape of alterations across a variety of solid tumors that may benefit from anti-HER2 agents.

摘要

经常会出现异常,并成为癌症的合理治疗靶点。在这项研究中,收集了来自 20 多种肿瘤类型的 14956 名患者的临床和下一代测序数据。共有 406 名(2.7%)患者存在扩增,303 名(2.0%)患者存在致病性体细胞 突变。扩增最常发生在乳腺癌(15.9%)和胃癌(8.3%)中。体细胞 SNVs/indels 最常见于膀胱癌/泌尿道(7.3%)和肠道(6.1%)癌症中。突变最多的 SNVs/indels 是 p.Y772_A775dup(25.5%)和 p.S310F/Y(19.9%)。与男性相比,女性的 SNV/indels 发生率明显更高(2.8%比 1.5%,<0.0001)。在高频扩增的癌症中, 是与 共扩增最常见的基因。与非改变的患者相比,携带 扩增或突变的患者具有更高的 TMB。该研究提供了多种实体肿瘤中 改变的全景图,这些肿瘤可能受益于抗 HER2 药物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5435/9325965/7b68a4638a13/pore-28-1610360-g001.jpg

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