Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jun 6, 2022; 10(16): 5446-5455
Published online Jun 6, 2022. doi: 10.12998/wjcc.v10.i16.5446
Pediatric acute myeloid leukemia patients with i(17)(q10) mimicking acute promyelocytic leukemia: Two case reports
Hong-Xia Yan, Wei-Hua Zhang, Jin-Quan Wen, Yan-He Liu, Bao-Juan Zhang, A-Duo Ji
Hong-Xia Yan, Department of Healthcare, Rainbow Hospital of Xianyang, Xianyang 721000, Shaanxi Province, China
Wei-Hua Zhang, Department of Pediatric Intensive Care Unit, Rainbow Hospital of Xianyang, Xianyang 721000, Shaanxi Province, China
Jin-Quan Wen, Department of Pediatric Hematology/Oncology, Rainbow Hospital of Xianyang, Xianyang 721000, Shaanxi Province, China
Yan-He Liu, Bao-Juan Zhang, A-Duo Ji, Department of Pediatric Hematology/Oncology, Rainbow Hospital of Xianyang, Xianyang 721000, Shaanxi Province, China
Author contributions: Yan HX and Wen JQ contributed to conception and design of the study; Yan HX and Zhang WH are the co-first author; Zhang WH organized the database; Yan HX wrote the first draft of the manuscript; all authors contributed to manuscript revision, read, and approved the submitted version.
Supported by Shaanxi Natural Science Foundation, No. 2020SF-004.
Informed consent statement: Consent was obtained from relatives of the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts 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: Jin-Quan Wen, BSc, Department of Pediatric Hematology/Oncology, Rainbow Hospital of Xianyang, Rainbow Hospital of Xianyang, Xianyang 721000, Shaanxi Province, China. wenjinquandr@126.com
Received: October 10, 2021
Peer-review started: October 10, 2021
First decision: January 13, 2022
Revised: January 21, 2022
Accepted: April 21, 2022
Article in press: April 21, 2022
Published online: June 6, 2022
Processing time: 235 Days and 7.8 Hours
Abstract
BACKGROUND

Chromosome i(17)(q10) abnormality is mainly associated with chronic myeloid leukemia (CML), myelodysplastic syndrome/myeloproliferative tumors (MDS/MPD), and acute myeloid leukemia (AML). The role of i(17)(q10) in AML is still unknown, the differences between AML and acute promyelocytic leukemia (APL)-like AML with i(17)(q10) need more research. This study aimed to investigate the clinical characteristics and laboratory evidence of 2 AML cases with i(17)(q10), similar to APL phenotype.

CASE SUMMARY

Both pediatric patients were males; case 1 had newly diagnosed AML, and case 2 showed relapsed tumor after 1 year of drug withdrawal. Bone marrow cell morphology, chromosome karyotype analysis, Fully-instrumented submersible housing test, immunological assays, molecular biological methods, and blood tumor panoramic gene test were performed. All-trans retinoic acid (ATRA) combined with arsenic acid (As2O3) were used in the first course of treatment. Bone marrow was dominated by abnormal promyelocytic granulocytes. Karyotype test revealed i(17)(q10) isochromosome. Immunological phenotype mainly included positive expressions of CD9, CD13, CD33, and CD38. Case 1 suffered intracranial hemorrhage after re-chemotherapy and died on D162. For case 2, on D145 and D265, bone marrow promyelocytic granulocytes accounted for 2%. Flow cytometric residual lesion detection showed no abnormal immunophenotype cells. The copy number of WT1 gene in two cases were 1087 and 1010, respectively, and the expression rates were 55.29% and 59.5%, respectively.

CONCLUSION

ATRA, As2O3, and chemotherapy may be ineffective in treating APL-like AML with i(17)(q10) but without t(15;17) and PML-RARA fusion gene.

Keywords: Chromosome; i(17)(q10); Gene mutations; Acute promyelocytic leukemia; Acute myeloid leukemia; Case report

Core Tip: Herein we reported two cases of acute myeloid leukemia (AML) mimicking APL after the same treatment protocols. A rare chromosomal abnormality, i(17)(q10), was observed in two pediatric patients, which mimicked acute promyelocytic leukemia (APL) phenotype. Both patients showed no responses to all-trans retinoic acid and arsenic trioxide induction therapy. One patient with i(17)(q10) died after 5 mo, and the other patient with i(17)(q10) add (14)14 had been medication free more than 10 mo and achieved complete tumor remission for 3 years since drugs were withdrawn. Pediatric AML mimicking APL is difficult to treat and additional cases should be studied to provide better treatment strategies for these patients.