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2024)","award":["3R01CA262263-01A1S1 sub-award number SCON-00004408"],"award-info":[{"award-number":["3R01CA262263-01A1S1 sub-award number SCON-00004408"]}]},{"name":"Direcci\u00f3n General de Pol\u00edticas de Investigaci\u00f3n en Salud (DGPIS), Financiamiento de Proyectos de Investigaci\u00f3n para la Salud (FPIS 2024)","award":["2U24ES028524 sub-award number 00011320"],"award-info":[{"award-number":["2U24ES028524 sub-award number 00011320"]}]},{"name":"Direcci\u00f3n General de Pol\u00edticas de Investigaci\u00f3n en Salud (DGPIS), Financiamiento de Proyectos de Investigaci\u00f3n para la Salud (FPIS 2024)","award":["FPIS2024-INMEGEN-7593"],"award-info":[{"award-number":["FPIS2024-INMEGEN-7593"]}]},{"name":"Direcci\u00f3n General de Pol\u00edticas de Investigaci\u00f3n en Salud (DGPIS), Financiamiento de Proyectos de Investigaci\u00f3n para la Salud (FPIS 2024)","award":["CONAHCY-706961"],"award-info":[{"award-number":["CONAHCY-706961"]}]},{"name":"Universidad Nacional Aut\u00f3noma de M\u00e9xico (UNAM)","award":["IFC 2016-2119"],"award-info":[{"award-number":["IFC 2016-2119"]}]},{"name":"Universidad Nacional Aut\u00f3noma de M\u00e9xico (UNAM)","award":["CF-2023-G 1399"],"award-info":[{"award-number":["CF-2023-G 1399"]}]},{"name":"Universidad Nacional Aut\u00f3noma de M\u00e9xico (UNAM)","award":["3R01CA262263-01A1S1 sub-award number SCON-00004408"],"award-info":[{"award-number":["3R01CA262263-01A1S1 sub-award number SCON-00004408"]}]},{"name":"Universidad Nacional Aut\u00f3noma de M\u00e9xico (UNAM)","award":["2U24ES028524 sub-award number 00011320"],"award-info":[{"award-number":["2U24ES028524 sub-award number 00011320"]}]},{"name":"Universidad Nacional Aut\u00f3noma de M\u00e9xico (UNAM)","award":["FPIS2024-INMEGEN-7593"],"award-info":[{"award-number":["FPIS2024-INMEGEN-7593"]}]},{"name":"Universidad Nacional Aut\u00f3noma de M\u00e9xico (UNAM)","award":["CONAHCY-706961"],"award-info":[{"award-number":["CONAHCY-706961"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pharmaceuticals"],"abstract":"<jats:p>Background\/Objectives: During cancer development, tumor cells accumulate somatic mutations, which could generate tumor-specific neoantigens. The aberrant protein can be recognized by the immune system as no-self, triggering an immune response against cells expressing this aberrant protein which could mediate tumor control or rejection. Since the expression of this mutated protein is exclusive to tumor cells, great efforts are being made to identify neoantigens of relevance in the development of new cancer treatment strategies. In comparison to adulthood tumors, pediatric malignancies present fewer mutations and thus fewer potential neoantigens. Acute lymphoblastic leukemia (ALL) is the most common pediatric malignancy worldwide that can be benefited by the identification of neoantigens for immunotherapy approaches, the landscape of neoantigens in ALL is not well known, therefore the aim of our study was to identify potential neoantigens in ALL pediatric patients. Methods: To identify neoantigens in ALL, whole-exome sequencing of matched tumor-normal cells from pediatric cases was performed, with these data HLA-I alleles predicted and somatic mutations identified to propose potential neoantigens based on binding affinity of mutated peptide-HLA-I. Results: We found a strong correlation between tumor mutational burden (TMB) and neoantigen load (p &lt; 0.001) but no correlation with prognosis. Furthermore, TMB and neoantigens were greater in ALL patients with at least one mutated DNA mismatch repair gene (p &lt; 0.001). Also, differences between B- and T-cell ALL were found but statistical significance did not remain after permutation. Conclusions: The presence of neoantigens in pediatric cases with ALL makes the neoantigen-based immunotherapy a promising new strategy for the treatment of this malignancy, especially for patients with relapse.<\/jats:p>","DOI":"10.3390\/ph18091405","type":"journal-article","created":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T12:24:25Z","timestamp":1758198265000},"page":"1405","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Somatic Mutations in DNA Mismatch Repair Genes, Mutation Rate and Neoantigen Load in Acute Lymphoblastic Leukemia"],"prefix":"10.3390","volume":"18","author":[{"given":"Diana Karen","family":"Mendiola-Soto","sequence":"first","affiliation":[{"name":"Laboratorio de Innovaci\u00f3n y Medicina de Precisi\u00f3n, N\u00facleo A, Instituto Nacional de Medicina Gen\u00f3mica, Ciudad de Mexico 14610, Mexico"},{"name":"Programa de Doctorado en Ciencias Biom\u00e9dicas, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Ciudad de Mexico 04510, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9685-6492","authenticated-orcid":false,"given":"Laura","family":"G\u00f3mez-Romero","sequence":"additional","affiliation":[{"name":"Departamento de Bioinform\u00e1tica, Instituto Nacional de Medicina Gen\u00f3mica, Ciudad de Mexico 14610, Mexico"},{"name":"Tecnol\u00f3gico de Monterrey, School of Medicine and Health Sciences, Ciudad de Mexico 14380, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8070-9727","authenticated-orcid":false,"given":"Juan Carlos","family":"N\u00fa\u00f1ez-Enr\u00edquez","sequence":"additional","affiliation":[{"name":"Unidad de Investigaci\u00f3n M\u00e9dica en Epidemiolog\u00eda Cl\u00ednica, Unidad M\u00e9dica de Alta Especialidad (UMAE), Hospital de Pediatr\u00eda \u201cDr. Silvestre Frenk Freund\u201d, Centro M\u00e9dico Nacional (CMN) \u201cSiglo 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Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6590-9712","authenticated-orcid":false,"given":"Silvia","family":"Jim\u00e9nez-Morales","sequence":"additional","affiliation":[{"name":"Laboratorio de Innovaci\u00f3n y Medicina de Precisi\u00f3n, N\u00facleo A, Instituto Nacional de Medicina Gen\u00f3mica, Ciudad de Mexico 14610, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"150","DOI":"10.2174\/1573396318666220901165247","article-title":"Targeted Treatment and Immunotherapy in High-risk and Relapsed\/Refractory Pediatric Acute Lymphoblastic Leukemia","volume":"19","author":"Behluli","year":"2023","journal-title":"Curr. Pediatr. Rev."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Barcenas-Lopez, D.A., Nunez-Enriquez, J.C., Hidalgo-Miranda, A., Beltran-Anaya, F.O., May-Hau, D.I., Jimenez-Hernandez, E., Bekker-Mendez, V.C., Flores-Lujano, J., Medina-Sanson, A., and Tamez-Gomez, E.L. (2020). Transcriptome Analysis Identifies LINC00152 as a Biomarker of Early Relapse and Mortality in Acute Lymphoblastic Leukemia. Genes, 11.","DOI":"10.3390\/genes11030302"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/j.outlook.2019.05.003","article-title":"Precision medicine and health disparities: The case of pediatric acute lymphoblastic leukemia","volume":"67","author":"Burke","year":"2019","journal-title":"Nurs. Outlook"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"918921","DOI":"10.3389\/fpubh.2022.918921","article-title":"Persistently high incidence rates of childhood acute leukemias from 2010 to 2017 in Mexico City: A population study from the MIGICCL","volume":"10","year":"2022","journal-title":"Front. Public Health"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1518","DOI":"10.1016\/j.leukres.2008.03.021","article-title":"BCR-ABL, ETV6-RUNX1 and E2A-PBX1: Prevalence of the most common acute lymphoblastic leukemia fusion genes in Mexican patients","volume":"32","author":"Carnevale","year":"2008","journal-title":"Leuk. Res."},{"key":"ref_6","first-page":"681","article-title":"Prevalence of ETV6\/RUNX1 Fusion Gene in Pediatric Patients with Acute Lymphoblastic Leukemia in Iran","volume":"23","author":"Rahnemoon","year":"2013","journal-title":"Iran. J. 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