妇科恶性肿瘤患者ERBB2/HER2基因扩增的分子格局;临床意义和未来方向。
Molecular landscape of ERBB2/HER2 gene amplification among patients with gynecologic malignancies; clinical implications and future directions.
发表日期:2023 Nov 28
作者:
Dimitrios Nasioudis, Stefan Gysler, Nawar Latif, Lory Cory, Robert L Giuntoli, Sarah H Kim, Fiona Simpkins, Lainie Martin, Emily M Ko
来源:
GYNECOLOGIC ONCOLOGY
摘要:
调查妇科恶性肿瘤患者中 ERBB2/HER2 基因扩增的患病率。访问了美国癌症研究协会 (AACR) 肿瘤基因组学证据信息交换 (GENIE)(13.1 版)数据库,对子宫内膜癌、卵巢癌和宫颈癌患者进行了调查被识别出来。选择具有拷贝数基因改变存在的可用数据的患者进行进一步分析。根据肿瘤部位和组织学分层后评估 ERBB2 扩增的发生率。 cBioPortal 提供的 OncoKB 数据库数据用于确定是否存在致病性基因组改变。总共确定了 6961 名符合纳入标准的患者:49.1% 患有卵巢癌,45.2% 患有子宫内膜癌,5.7% 患有宫颈癌分别为癌症。 ERBB2 扩增的总体发生率为 3.8%。 ERBB2扩增发生率最高的是卵巢粘液性患者(14.4%)、子宫浆液性患者(13.2%)、子宫透明细胞瘤患者(9.4%)和子宫癌肉瘤患者(7.9%)。 ERBB2 扩增在 TP53 野生型子宫内膜样子宫内膜癌患者中很少见 (0.4%)。 ERBB2扩增肿瘤患者中PI3K通路基因突变发生率较高。ERBB2扩增常见于子宫浆液性癌和粘液性卵巢癌患者。此外,子宫透明细胞癌、子宫癌肉瘤的发病率也较高。对于子宫内膜样子宫内膜癌患者,ERBB2 扩增的发生率较低,尤其是在没有 TP53 突变的情况下。版权所有 © 2023 Elsevier Inc. 保留所有权利。
Investigate the prevalence of ERBB2/HER2 gene amplification among patients with gynecologic malignancies.The American Association of Cancer Research (AACR) Genomics Evidence of Neoplasia Information Exchange (GENIE) (version 13.1) database was accessed and patients with endometrial, ovarian, and cervical cancer were identified. Patients with available data on the presence of copy-number gene alterations were selected for further analysis. Incidence of ERBB2 amplification following stratification by tumor site and histology was evaluated. Data from the OncoKB database, as provided by cBioPortal, was utilized to determine presence of pathogenic genomic alterations.A total of 6961 patients who met the inclusion criteria were identified: 49.1% with ovarian cancer, 45.2% with endometrial cancer and 5.7% with cervical cancer respectively. Overall incidence of ERBB2 amplification was 3.8%. Highest incidence of ERBB2 amplification was observed among patients with mucinous ovarian (14.4%), uterine serous (13.2%), uterine clear cell (9.4%), and uterine carcinosarcoma (7.9%). ERBB2 amplification was rare among patients with TP53 wild-type endometrioid endometrial cancer (0.4%). High incidence of mutations in genes of the PI3K pathway was observed among patients with ERBB2 amplified tumors.ERBB2 amplification is frequently encountered among patients with uterine serous carcinoma, and mucinous ovarian carcinoma. In addition, a high incidence was also observed among those with uterine clear cell carcinoma, and uterine carcinosarcoma. For patients with endometrioid endometrial carcinoma, incidence of ERBB2 amplification is low, especially in the absence of TP53 mutations.Copyright © 2023 Elsevier Inc. All rights reserved.