Mitchell Cancer Institute, University of South Alabama, Division of Gynecologic Oncology Mobile, AL, United States of America.
Caris Life Sciences, Pheonix, AZ, United States of America.
Gynecol Oncol. 2022 Jul;166(1):108-116. doi: 10.1016/j.ygyno.2022.04.014. Epub 2022 Apr 28.
Disparate outcomes exist between Black and White patients with endometrial cancer (EC). One contributing factor is the disproportionately low representation of Black patients in clinical trials and in tumor molecular profiling studies. Our objective was to investigate molecular profiles of ECs in a cohort with a high proportion of tumors from Black patients.
A total of 248 EC samples and self-reported race data were collected from 6 institutions. Comprehensive tumor profiling and analyses were performed by Caris Life Sciences.
Tumors from 105 (42%) Black and 143 (58%) White patients were included. Serous histology (58% vs 36%) and carcinosarcoma (25% vs 16%), was more common among Black patients, and endometrioid was less common (17% vs 48%) (p < 0.01). Differences in gene mutations between cohorts corresponded to observed histologic differences between races. Specifically, TP53 mutations were predominant in serous tumors. In endometrioid tumors, mutations in ARID1A were the most common, and high rates of MSI-H, MMRd, and TMB-H were observed. In carcinosarcoma tumors, hormone receptor expression was high in tumors of Black patients (PR 23.4%, ER 30.8%). When stratified by histology, there were no significant differences between tumors from Black and White women.
This cohort had a high proportion of tumors from Black women. Distinct molecular profiles were driven primarily by more aggressive histologic subtypes among Black women. Continued effort is needed to include Black women and other populations under-represented in EC molecular profiling studies as targeted therapies and personalized medicine become mainstream.
黑人患者和白人患者的子宫内膜癌（EC）预后存在差异。一个促成因素是黑人患者在临床试验和肿瘤分子谱研究中的代表性严重不足。我们的目的是研究一个高比例黑人患者肿瘤的 EC 分子谱。
从 6 家机构共收集了 248 例 EC 样本和自我报告的种族数据。由 Caris Life Sciences 进行全面的肿瘤分析。
纳入了 105 名（42%）黑人患者和 143 名（58%）白人患者的肿瘤。黑人患者中浆液性组织学（58%比 36%）和癌肉瘤（25%比 16%）更为常见，而子宫内膜样组织学较少见（17%比 48%）（p < 0.01）。队列之间基因突变的差异与种族之间观察到的组织学差异相对应。具体来说，TP53 突变在浆液性肿瘤中占主导地位。在子宫内膜样肿瘤中，ARID1A 突变最为常见，且观察到 MSI-H、MMRd 和 TMB-H 的发生率较高。在癌肉瘤肿瘤中，黑人患者肿瘤中激素受体表达较高（PR 23.4%，ER 30.8%）。按组织学分层，黑人与白人妇女的肿瘤之间无显著差异。
该队列中黑人患者的肿瘤比例较高。黑人患者中更具侵袭性的组织学亚型主要驱动了不同的分子谱。随着靶向治疗和个体化医学成为主流，需要继续努力纳入黑人妇女和其他在 EC 分子谱研究中代表性不足的人群。
