Hovsep Ohan, Juan Gomez-Gelvez, Yulei Shen, Sharmila Ghosh, John Carey, Kedar Inamdar, Wei Liu
{"title":"An unusual case of pure erythroid leukemia with normal karyotype and NPM1 mutation.","authors":"Hovsep Ohan, Juan Gomez-Gelvez, Yulei Shen, Sharmila Ghosh, John Carey, Kedar Inamdar, Wei Liu","doi":"10.1007/s12308-024-00588-5","DOIUrl":null,"url":null,"abstract":"<p><p>Pure erythroid leukemia (PEL) is an extremely rare subtype of acute myeloid leukemia (AML). Although not specific, PEL is almost uniformly associated with complex karyotype and TP53 mutations. Given the rarity of the disease, our understanding of its cytogenetic and molecular features deems incomplete. We aim to complement existing literature by presenting an unusual case of PEL. The case is comprehensively worked up with multiple modalities. We present for the first time a case of PEL with unusual cytogenetic and molecular features: normal karyotype with absence of TP53 mutations and presence of NPM1 and NRAS mutations. This is a valuable addition to literature, expanding our understanding of molecular and cytogenetic spectra of PEL.</p>","PeriodicalId":51320,"journal":{"name":"Journal of Hematopathology","volume":null,"pages":null},"PeriodicalIF":0.6000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Hematopathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12308-024-00588-5","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/7/19 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Pure erythroid leukemia (PEL) is an extremely rare subtype of acute myeloid leukemia (AML). Although not specific, PEL is almost uniformly associated with complex karyotype and TP53 mutations. Given the rarity of the disease, our understanding of its cytogenetic and molecular features deems incomplete. We aim to complement existing literature by presenting an unusual case of PEL. The case is comprehensively worked up with multiple modalities. We present for the first time a case of PEL with unusual cytogenetic and molecular features: normal karyotype with absence of TP53 mutations and presence of NPM1 and NRAS mutations. This is a valuable addition to literature, expanding our understanding of molecular and cytogenetic spectra of PEL.
期刊介绍：
The Journal of Hematopathology aims at providing pathologists with a special interest in hematopathology with all the information needed to perform modern pathology in evaluating lymphoid tissues and bone marrow. To this end the journal publishes reviews, editorials, comments, original papers, guidelines and protocols, papers on ancillary techniques, and occasional case reports in the fields of the pathology, molecular biology, and clinical features of diseases of the hematopoietic system.
The journal is the unique reference point for all pathologists with an interest in hematopathology. Molecular biologists involved in the expanding field of molecular diagnostics and research on lymphomas and leukemia benefit from the journal, too. Furthermore, the journal is of major interest for hematologists dealing with patients suffering from lymphomas, leukemias, and other diseases.
The journal is unique in its true international character. Especially in the field of hematopathology it is clear that there are huge geographical variations in incidence of diseases. This is not only locally relevant, but due to globalization, relevant for all those involved in the management of patients.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
