{"title":"Diagnosis of pediatric acute myeloid leukemia and mixed-phenotype acute leukemia","authors":"Xenia Parisi, Jacob R Bledsoe","doi":"10.1016/j.mpdhp.2025.07.001","DOIUrl":null,"url":null,"abstract":"<div><div>Pediatric acute myeloid leukemia (AML) represents a group of genetically and clinicopathologically heterogeneous entities, and includes many types that do not occur in adults, presenting unique challenges in clinical practice. Accurate diagnosis and classification impacts therapeutic decisions and relies on an integrated approach that incorporates clinical features, morphologic examination, immunophenotyping, and comprehensive genetic testing. This review covers the clinicopathologic spectrum of pediatric AML, with a focus on age-specific genetic abnormalities and morphologic variants. We present a diagnostic approach to pediatric AML that incorporates the age of presentation together with morphologic and immunophenotypic clues that may suggest an underlying genetic driver, or that should prompt additional testing. In addition to a description of the most common pediatric AML entities (<em>KMT2A</em>-r, <em>RUNX1::RUNX1T1</em>; <em>CBFB::MYH11</em>, and <em>NUP98</em>-r), we detail particular types of AML that are enriched in children. These include acute megakaryoblastic and erythroid leukemias, as well as newly described entities including AML with <em>KAT6A</em>-r, ETS-family fusions (including <em>MNX1::ETV6</em> and <em>FUS::ERG</em>), <em>UBTF</em>-tandem duplications, <em>CBFB</em><em>=</em>GDXY, <em>KMT2A</em>-PTD, and TTMV::<em>RARA</em>, among others. Finally, we include a description of myeloid proliferations of Down syndrome and mixed-phenotype acute leukemias. Key differences from adult AML are emphasized, with a focus on the critical interpretive role of the pathologist in integrating bone marrow findings with clinical and molecular data for accurate classification and risk stratification.</div></div>","PeriodicalId":39961,"journal":{"name":"Diagnostic Histopathology","volume":"31 10","pages":"Pages 531-563"},"PeriodicalIF":0.0000,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Diagnostic Histopathology","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1756231725001240","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Pediatric acute myeloid leukemia (AML) represents a group of genetically and clinicopathologically heterogeneous entities, and includes many types that do not occur in adults, presenting unique challenges in clinical practice. Accurate diagnosis and classification impacts therapeutic decisions and relies on an integrated approach that incorporates clinical features, morphologic examination, immunophenotyping, and comprehensive genetic testing. This review covers the clinicopathologic spectrum of pediatric AML, with a focus on age-specific genetic abnormalities and morphologic variants. We present a diagnostic approach to pediatric AML that incorporates the age of presentation together with morphologic and immunophenotypic clues that may suggest an underlying genetic driver, or that should prompt additional testing. In addition to a description of the most common pediatric AML entities (KMT2A-r, RUNX1::RUNX1T1; CBFB::MYH11, and NUP98-r), we detail particular types of AML that are enriched in children. These include acute megakaryoblastic and erythroid leukemias, as well as newly described entities including AML with KAT6A-r, ETS-family fusions (including MNX1::ETV6 and FUS::ERG), UBTF-tandem duplications, CBFB=GDXY, KMT2A-PTD, and TTMV::RARA, among others. Finally, we include a description of myeloid proliferations of Down syndrome and mixed-phenotype acute leukemias. Key differences from adult AML are emphasized, with a focus on the critical interpretive role of the pathologist in integrating bone marrow findings with clinical and molecular data for accurate classification and risk stratification.
期刊介绍:
This monthly review journal aims to provide the practising diagnostic pathologist and trainee pathologist with up-to-date reviews on histopathology and cytology and related technical advances. Each issue contains invited articles on a variety of topics from experts in the field and includes a mini-symposium exploring one subject in greater depth. Articles consist of system-based, disease-based reviews and advances in technology. They update the readers on day-to-day diagnostic work and keep them informed of important new developments. An additional feature is the short section devoted to hypotheses; these have been refereed. There is also a correspondence section.