{"title":"A case of T-cell acute lymphoblastic leukemia with co-occurrence of NUP214-ABL1 fusion and tetraploidy","authors":"Lijuan Zhu, Wei Zha, Jiajia Zhuo, Xia Yu","doi":"10.1016/j.cancergen.2025.02.009","DOIUrl":null,"url":null,"abstract":"<div><div>Although testing and treatment of blood malignancies have been standardized, additional unidentified genetic abnormalities often complicate the diagnosis and therapeutic outcome. Thus, improvement of contemporary therapy requires further stratification of patients based on detailed genetic information. Here, we describe an extremely rare case of Philadelphia chromosome-like T-cell acute lymphoblastic leukemia (Ph-like T-ALL) with NUP214-ABL1 fusion and presentation of unusually enlarged nuclei in the leukemic cells, which was attributed to tetraploidy. Despite receiving the protocol-guided induction chemotherapy, the patient did not respond favorably. The challenges in treating Ph-like T-ALL with rare genetic abnormalities, highlight the need of further research and personalized medication.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 116-119"},"PeriodicalIF":1.4000,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cancer Genetics","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2210776225000262","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Although testing and treatment of blood malignancies have been standardized, additional unidentified genetic abnormalities often complicate the diagnosis and therapeutic outcome. Thus, improvement of contemporary therapy requires further stratification of patients based on detailed genetic information. Here, we describe an extremely rare case of Philadelphia chromosome-like T-cell acute lymphoblastic leukemia (Ph-like T-ALL) with NUP214-ABL1 fusion and presentation of unusually enlarged nuclei in the leukemic cells, which was attributed to tetraploidy. Despite receiving the protocol-guided induction chemotherapy, the patient did not respond favorably. The challenges in treating Ph-like T-ALL with rare genetic abnormalities, highlight the need of further research and personalized medication.
期刊介绍：
The aim of Cancer Genetics is to publish high quality scientific papers on the cellular, genetic and molecular aspects of cancer, including cancer predisposition and clinical diagnostic applications. Specific areas of interest include descriptions of new chromosomal, molecular or epigenetic alterations in benign and malignant diseases; novel laboratory approaches for identification and characterization of chromosomal rearrangements or genomic alterations in cancer cells; correlation of genetic changes with pathology and clinical presentation; and the molecular genetics of cancer predisposition. To reach a basic science and clinical multidisciplinary audience, we welcome original full-length articles, reviews, meeting summaries, brief reports, and letters to the editor.
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