为了调查MAPK/ERK通路基因组变异在妇科恶性肿瘤患者中的发生率，我们使用了美国癌症研究协会肿瘤基因组证据公开数据库（v13.0）进行数据查询。我们确认了卵巢恶性肿瘤、子宫恶性肿瘤和宫颈恶性肿瘤的患者。在按肿瘤部位和组织学分析后，我们研究了MAPK/ERK通路基因的变异率（包括体细胞突变和结构染色体变异）。我们包括了RAS-MAPK通路中已知与该通路失调相关的以下基因：KRAS、NRAS、BRAF、HRAS、MAP2K1、RAF1、PTPN11、NF1和ARAF。我们使用OncoKB数据库中cBioPortal提供的数据来确定致病基因变异。 我们鉴定了总共10,233例妇科恶性肿瘤患者；其中48.2%（n = 4937）为卵巢癌，45.2%（n = 4621）为子宫癌，6.6%（n = 675）为宫颈癌。MAPK通路基因变异的总体发生率为21%；其中最常发生变异的基因是KRAS（13%），其次是NF1（7%），NRAS（1.3%）和BRAF（1.2%）。在粘液性卵巢癌（71%）、低级别浆液性卵巢癌（48%）、子宫内膜样卵巢癌（37%）和子宫内膜样子宫内膜癌（34%）患者中观察到最高发生率。 大约每5个妇科肿瘤患者中就有1个患有MAPK/ERK通路基因组变异。应该对这些变异进行新的治疗策略开发。版权所有 © 2023。由Elsevier公司出版。

To investigate the incidence of MAPK/ERK pathway genomic alterations among patients with gynecologic malignancies.We accessed the American Association of Cancer Research Genomics Evidence of Neoplasia Information Exchange publicly available dataset (v13.0). Patients with malignant tumors of the ovary, uterus, and cervix were identified. Following stratification by tumor site and histology, we examined the prevalence of MAPK/ERK pathway gene alterations (somatic mutation, and/or structural chromosome alterations). We included the following RAS-MAPK pathway genes known to be implicated in the dysregulation of the pathway; KRAS, NRAS, BRAF, HRAS, MAP2K1, RAF1, PTPN11, NF1, and ARAF. Data from the OncoKB database, as provided by cBioPortal, were utilized to determine pathogenic gene alterations.We identified a total of 10,233 patients with gynecologic malignancies; 48.2% (n = 4937) with ovarian, 45.2% (n = 4621) with uterine and 6.6% (n = 675) with cervical cancer respectively. The overall incidence of MAPK pathway gene alterations was 21%; the most commonly altered gene was KRAS (13%), followed by NF1 (7%), NRAS (1.3%), and BRAF (1.2%). The highest incidence was observed among patients with mucinous ovarian (71%), low-grade serous ovarian (48%), endometrioid ovarian (37%), and endometrioid endometrial carcinoma (34%).Approximately 1 in 5 patients with a gynecologic tumor harbor a MAPK/ERK pathway genomic alteration. Novel treatment strategies capitalizing on these alterations are warranted.Copyright © 2023. Published by Elsevier Inc.