Cecilia Monge, Brigette Waldrup, Sophia Manjarrez, Francisco G. Carranza, Enrique Velazquez-Villarreal
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Mutation frequencies were assessed using descriptive statistics, with chi-squared tests comparing proportions between early-onset Hispanic/Latino and non-Hispanic White groups. Kaplan–Meier survival curves were generated to assess overall survival for early-onset Hispanic/Latino patients, stratified by the presence or absence of PI3K and TP53 pathway alterations.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>Significant differences were noted when comparing early-onset CRC in Hispanic/Latino patients to early-onset CRC in non-Hispanic White patients. PI3K (47.1% vs. 35.2%, <i>p</i> = 9.39e-3) and TP53 (89.1% vs. 81.7%, <i>p</i> = 0.04) pathway alterations were more prevalent in early-onset CRC among Hispanic/Latino patients, with AKT1 (5.1% vs. 1.8%, <i>p</i> = 0.03), INPP4B (4.3% vs. 1.4%, <i>p</i> = 0.04), and TSC1 (7.2% vs. 3.1% <i>p</i> = 0.03) gene alterations also significantly higher in this group. Significant differences were observed in TP53 mutations between colon adenocarcinomas (90% vs. 79.1%, <i>p</i> = 0.03), with higher prevalence in Hispanic/Latino patients when stratified by tumor site. No significant differences were observed between early-onset and late-onset CRC patients within the Hispanic/Latino cohort.</p>\n </section>\n \n <section>\n \n <h3> Conclusions</h3>\n \n <p>These findings highlight the distinct role of PI3K and TP53 pathway disruptions in early-onset CRC among Hispanic/Latino patients, suggesting that pathway-specific mechanisms may drive cancer health disparities. Insights from this study could inform the potential development of precision medicine approaches and targeted therapies aimed at addressing these disparities.</p>\n </section>\n </div>","PeriodicalId":139,"journal":{"name":"Cancer Medicine","volume":"14 7","pages":""},"PeriodicalIF":3.1000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cam4.70791","citationCount":"0","resultStr":"{\"title\":\"Detecting PI3K and TP53 Pathway Disruptions in Early-Onset Colorectal Cancer Among Hispanic/Latino Patients\",\"authors\":\"Cecilia Monge, Brigette Waldrup, Sophia Manjarrez, Francisco G. 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引用次数: 0
摘要
背景/目的本研究旨在表征西班牙/拉丁裔早发性结直肠癌（CRC）患者PI3K和TP53通路的改变，重点关注与非西班牙裔白人患者的潜在差异。了解这些差异可能有助于了解结直肠癌健康差异的分子基础。方法利用cbiopportal进行生物信息学分析，评估PI3K和TP53通路中的CRC突变。CRC患者按年龄和种族分层：(1)早发（50岁）vs晚发（≥50岁）；(2)西班牙/拉丁裔早发患者vs非西班牙裔白人早发患者。使用描述性统计评估突变频率，用卡方检验比较早发西班牙裔/拉丁裔和非西班牙裔白人组的比例。生成Kaplan-Meier生存曲线以评估早发西班牙/拉丁裔患者的总生存率，并根据是否存在PI3K和TP53通路改变进行分层。结果西班牙裔/拉丁裔患者的早发性CRC与非西班牙裔白人患者的早发性CRC存在显著差异。PI3K （47.1% vs. 35.2%, p = 9.39e-3）和TP53 （89.1% vs. 81.7%, p = 0.04）通路改变在西班牙/拉丁裔早发性CRC患者中更为普遍，AKT1 （5.1% vs. 1.8%, p = 0.03）、INPP4B （4.3% vs. 1.4%, p = 0.04）和TSC1 （7.2% vs. 3.1% p = 0.03）基因改变在该组中也显著较高。TP53突变在结肠腺癌中存在显著差异（90% vs. 79.1%, p = 0.03），按肿瘤部位分层时，西班牙裔/拉丁裔患者的患病率更高。在西班牙/拉丁裔队列中，早发性和晚发性CRC患者之间未观察到显著差异。这些发现强调了PI3K和TP53通路中断在西班牙/拉丁裔患者早发性CRC中的独特作用，表明通路特异性机制可能导致癌症健康差异。这项研究的见解可以为解决这些差异的精准医学方法和靶向治疗的潜在发展提供信息。
Detecting PI3K and TP53 Pathway Disruptions in Early-Onset Colorectal Cancer Among Hispanic/Latino Patients
Background/Objectives
This study aims to characterize PI3K and TP53 pathway alterations in Hispanic/Latino patients with early-onset colorectal cancer (CRC), focusing on potential differences compared to non-Hispanic White patients. Understanding these differences may shed light on the molecular basis of CRC health disparities.
Methods
Using cBioPortal, we conducted a bioinformatics analysis to evaluate CRC mutations within the PI3K and TP53 pathways. CRC patients were stratified by age and ethnicity: (1) early-onset (< 50 years) versus late-onset (≥ 50 years) and (2) early-onset in Hispanic/Latino patients compared to early-onset in non-Hispanic White patients. Mutation frequencies were assessed using descriptive statistics, with chi-squared tests comparing proportions between early-onset Hispanic/Latino and non-Hispanic White groups. Kaplan–Meier survival curves were generated to assess overall survival for early-onset Hispanic/Latino patients, stratified by the presence or absence of PI3K and TP53 pathway alterations.
Results
Significant differences were noted when comparing early-onset CRC in Hispanic/Latino patients to early-onset CRC in non-Hispanic White patients. PI3K (47.1% vs. 35.2%, p = 9.39e-3) and TP53 (89.1% vs. 81.7%, p = 0.04) pathway alterations were more prevalent in early-onset CRC among Hispanic/Latino patients, with AKT1 (5.1% vs. 1.8%, p = 0.03), INPP4B (4.3% vs. 1.4%, p = 0.04), and TSC1 (7.2% vs. 3.1% p = 0.03) gene alterations also significantly higher in this group. Significant differences were observed in TP53 mutations between colon adenocarcinomas (90% vs. 79.1%, p = 0.03), with higher prevalence in Hispanic/Latino patients when stratified by tumor site. No significant differences were observed between early-onset and late-onset CRC patients within the Hispanic/Latino cohort.
Conclusions
These findings highlight the distinct role of PI3K and TP53 pathway disruptions in early-onset CRC among Hispanic/Latino patients, suggesting that pathway-specific mechanisms may drive cancer health disparities. Insights from this study could inform the potential development of precision medicine approaches and targeted therapies aimed at addressing these disparities.
期刊介绍：
Cancer Medicine is a peer-reviewed, open access, interdisciplinary journal providing rapid publication of research from global biomedical researchers across the cancer sciences. The journal will consider submissions from all oncologic specialties, including, but not limited to, the following areas:
Clinical Cancer Research
Translational research ∙ clinical trials ∙ chemotherapy ∙ radiation therapy ∙ surgical therapy ∙ clinical observations ∙ clinical guidelines ∙ genetic consultation ∙ ethical considerations
Cancer Biology:
Molecular biology ∙ cellular biology ∙ molecular genetics ∙ genomics ∙ immunology ∙ epigenetics ∙ metabolic studies ∙ proteomics ∙ cytopathology ∙ carcinogenesis ∙ drug discovery and delivery.
Cancer Prevention:
Behavioral science ∙ psychosocial studies ∙ screening ∙ nutrition ∙ epidemiology and prevention ∙ community outreach.
Bioinformatics:
Gene expressions profiles ∙ gene regulation networks ∙ genome bioinformatics ∙ pathwayanalysis ∙ prognostic biomarkers.
Cancer Medicine publishes original research articles, systematic reviews, meta-analyses, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented in the paper.
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