Zhang MY, Zhao Y, Zhang JH. t(4;11) translocation in hyperdiploid de novo adult acute myeloid leukemia: A case report. World J Clin Cases 2022; 10(32): 11980-11986 [PMID: 36405254 DOI: 10.12998/wjcc.v10.i32.11980]
Corresponding Author of This Article
Ji-hong Zhang, PhD, Chief Doctor, Professor, Hematology Laboratory, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Heping District, Shenyang 110022, Liaoning Province, China. zhangjh96615@126.com
Research Domain of This Article
Hematology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Nov 16, 2022; 10(32): 11980-11986 Published online Nov 16, 2022. doi: 10.12998/wjcc.v10.i32.11980
t(4;11) translocation in hyperdiploid de novo adult acute myeloid leukemia: A case report
Min-Yu Zhang, Yue Zhao, Ji-Hong Zhang
Min-Yu Zhang, Yue Zhao, Ji-Hong Zhang, Hematology Laboratory, Shengjing Hospital of China Medical University, Shenyang 110022, Liaoning Province, China
Author contributions: Zhang MY contributed to the writing of the manuscript; Zhao Y was involved in drafting and revising the manuscript; Zhang JH reviewed the manuscript and gave inputs; All authors have read the manuscript and approved the submitted version.
Informed consent statement: Informed consent was given by his relatives for publishing this report.
Conflict-of-interest statement: All authors disclosed no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Ji-hong Zhang, PhD, Chief Doctor, Professor, Hematology Laboratory, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Heping District, Shenyang 110022, Liaoning Province, China. zhangjh96615@126.com
Received: August 30, 2022 Peer-review started: August 30, 2022 First decision: September 9, 2022 Revised: September 23, 2022 Accepted: October 20, 2022 Article in press: October 20, 2022 Published online: November 16, 2022 Processing time: 70 Days and 4.6 Hours
Abstract
BACKGROUND
MLL gene rearrangement is a common genetic abnormality of acute myeloid leukemia (AML), which predicts poor prognosis and is important in clinical diagnosis. MLL rearrangement involves many chromosomes, among which, t(4;11) translocation is rare in AML. The present case was t(4;11) AML, accompanied by a hyperdiploid karyotype. Such cases have not been reported previously.
CASE SUMMARY
An adult male with self-reported symptoms of fatigue, febrility and hyperleukocytosis was diagnosed with AML by morphology and confirmed by immunophenotype analysis. Uncommonly, chromosomal and fluorescence in situ hybridization (FISH) analysis showed a hyperdiploid karyotype with t(4;11) translocation and MLL rearrangement, and a negative MLL–AF4 fusion gene result. The patient died of respiratory and circulatory failure 5 days after diagnosis.
CONCLUSION
t(4;11) AML with hyperdiploid karyotype has not been reported. In this case, t(4;11) was only detected by karyotype analysis and FISH, suggesting their importance in MLL rearrangement detection.
Core Tip: t(4;11) translocation is a rare karyotypic abnormality in acute myeloid leukemia (AML). We report for the first time an AML patient with t(4;11) and hyperdiploid karyotype abnormality only detected by karyotype analysis and fluorescence in situ hybridization. This highlights their importance in the diagnosis and prognosis of leukemia. We also describe the phenotype and gene mutation profile of his leukemia cells.