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波多黎各拉丁裔人群的结直肠癌分子与社会人口学差异。

Molecular and Sociodemographic Colorectal Cancer Disparities in Latinos Living in Puerto Rico.

机构信息

NCI Center for Cancer Genomics, Bethesda, MD 20892, USA.

University of Puerto Rico Comprehensive Cancer Center, San Juan, PR 00936, USA.

出版信息

Genes (Basel). 2023 Apr 11;14(4):894. doi: 10.3390/genes14040894.

Abstract

BACKGROUND

The incidence of sporadic colorectal cancer (CRC) among individuals <50 years (early-onset CRC) has been increasing in the United States (U.S.) and Puerto Rico. CRC is currently the leading cause of cancer death among Hispanic men and women living in Puerto Rico (PRH). The objective of this study was to characterize the molecular markers and clinicopathologic features of colorectal tumors from PRH to better understand the molecular pathways leading to CRC in this Hispanic subpopulation.

METHODS

Microsatellite instability (MSI), CpG island methylator phenotype (CIMP), and and mutation status were analyzed. Sociodemographic and clinicopathological characteristics were evaluated using Chi-squared and Fisher's exact tests.

RESULTS

Of the 718 tumors analyzed, 34.2% ( = 245) were early-onset CRC, and 51.7% were males. Among the tumors with molecular data available ( = 192), 3.2% had MSI, 9.7% had , and 31.9% had mutations. The most common mutations observed were G12D (26.6%) and G13D (20.0%); G12C was present in 4.4% of tumors. A higher percentage of Amerindian admixture was significantly associated with early-onset CRC.

CONCLUSIONS

The differences observed in the prevalence of the molecular markers among PRH tumors compared to other racial/ethnic groups suggest a distinct molecular carcinogenic pathway among Hispanics. Additional studies are warranted.

摘要

背景

美国(U.S.)和波多黎各的散发性结直肠癌(CRC)在 50 岁以下人群(早发性 CRC)中的发病率一直在上升。CRC 目前是波多黎各(PRH)居住的西班牙裔男性和女性癌症死亡的主要原因。本研究的目的是描述 PRH 结直肠肿瘤的分子标志物和临床病理特征,以更好地了解导致这一西班牙裔亚群 CRC 的分子途径。

方法

分析微卫星不稳定性(MSI)、CpG 岛甲基化表型(CIMP)和 和 突变状态。使用卡方和 Fisher 精确检验评估社会人口统计学和临床病理特征。

结果

在分析的 718 个肿瘤中,34.2%(=245)为早发性 CRC,51.7%为男性。在具有分子数据的肿瘤中(=192),3.2%有 MSI,9.7%有 ,31.9%有 突变。观察到的最常见的 突变是 G12D(26.6%)和 G13D(20.0%);G12C 存在于 4.4%的肿瘤中。美洲印第安人混血程度较高与早发性 CRC 显著相关。

结论

与其他种族/民族群体相比,PRH 肿瘤中分子标志物的流行率存在差异,这表明西班牙裔人群中存在独特的致癌分子途径。需要进一步研究。

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本文引用的文献

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Clin Gastroenterol Hepatol. 2020 Nov;18(12):2752-2759.e2. doi: 10.1016/j.cgh.2019.10.009. Epub 2019 Oct 14.

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