{"title":"急性髓系白血病的突变景观:概述和预后影响。","authors":"Jeff Chen, Fares Hassan, Carlos A Tirado","doi":"10.3390/diagnostics15192537","DOIUrl":null,"url":null,"abstract":"<p><p>Acute myeloid leukemia (AML) comprises 15-20% of pediatric leukemia and 35% of adult leukemia cases, requiring insights into prognostic factors of this disease to be an important aspect of diagnosis and treatment. A mutational profile of patients with AML is a crucial predictor of their outcome. Discernment of present mutations, co-mutation combinations, and variations in the mutations in a single gene requires proper research and analysis to determine their impact on a patient's prognosis. Common and infrequent mutations are continuously investigated and analyzed in different patient cohorts, bringing new insights that lead to changes in classifications, treatments, and diagnoses. For instance, mutations in <i>NPM1</i>, <i>FLT3,</i> and <i>DNMT3A</i>, three frequent driver mutations, have high incident rates with differing prognoses and treatments in pediatric and adult patients. AML patients with <i>MECOM</i> face particularly dire outcomes, as well as those with <i>ASXL1</i> and <i>TP53</i>, making their mutational analysis crucial for review in developing a prognosis.</p>","PeriodicalId":11225,"journal":{"name":"Diagnostics","volume":"15 19","pages":""},"PeriodicalIF":3.3000,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12524057/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Mutational Landscape in Acute Myeloid Leukemia: Overview and Prognostic Impacts.\",\"authors\":\"Jeff Chen, Fares Hassan, Carlos A Tirado\",\"doi\":\"10.3390/diagnostics15192537\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Acute myeloid leukemia (AML) comprises 15-20% of pediatric leukemia and 35% of adult leukemia cases, requiring insights into prognostic factors of this disease to be an important aspect of diagnosis and treatment. A mutational profile of patients with AML is a crucial predictor of their outcome. Discernment of present mutations, co-mutation combinations, and variations in the mutations in a single gene requires proper research and analysis to determine their impact on a patient's prognosis. Common and infrequent mutations are continuously investigated and analyzed in different patient cohorts, bringing new insights that lead to changes in classifications, treatments, and diagnoses. For instance, mutations in <i>NPM1</i>, <i>FLT3,</i> and <i>DNMT3A</i>, three frequent driver mutations, have high incident rates with differing prognoses and treatments in pediatric and adult patients. AML patients with <i>MECOM</i> face particularly dire outcomes, as well as those with <i>ASXL1</i> and <i>TP53</i>, making their mutational analysis crucial for review in developing a prognosis.</p>\",\"PeriodicalId\":11225,\"journal\":{\"name\":\"Diagnostics\",\"volume\":\"15 19\",\"pages\":\"\"},\"PeriodicalIF\":3.3000,\"publicationDate\":\"2025-10-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12524057/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Diagnostics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.3390/diagnostics15192537\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Diagnostics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3390/diagnostics15192537","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
A Mutational Landscape in Acute Myeloid Leukemia: Overview and Prognostic Impacts.
Acute myeloid leukemia (AML) comprises 15-20% of pediatric leukemia and 35% of adult leukemia cases, requiring insights into prognostic factors of this disease to be an important aspect of diagnosis and treatment. A mutational profile of patients with AML is a crucial predictor of their outcome. Discernment of present mutations, co-mutation combinations, and variations in the mutations in a single gene requires proper research and analysis to determine their impact on a patient's prognosis. Common and infrequent mutations are continuously investigated and analyzed in different patient cohorts, bringing new insights that lead to changes in classifications, treatments, and diagnoses. For instance, mutations in NPM1, FLT3, and DNMT3A, three frequent driver mutations, have high incident rates with differing prognoses and treatments in pediatric and adult patients. AML patients with MECOM face particularly dire outcomes, as well as those with ASXL1 and TP53, making their mutational analysis crucial for review in developing a prognosis.
DiagnosticsBiochemistry, Genetics and Molecular Biology-Clinical Biochemistry
CiteScore
4.70
自引率
8.30%
发文量
2699
审稿时长
19.64 days
期刊介绍:
Diagnostics (ISSN 2075-4418) is an international scholarly open access journal on medical diagnostics. It publishes original research articles, reviews, communications and short notes on the research and development of medical diagnostics. There is no restriction on the length of the papers. Our aim is to encourage scientists to publish their experimental and theoretical research in as much detail as possible. Full experimental and/or methodological details must be provided for research articles.