Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Apr 6, 2020; 8(7): 1251-1256
Published online Apr 6, 2020. doi: 10.12998/wjcc.v8.i7.1251
Acute myeloid leukemia with t(11;19)(q23;p13.1) in a patient with a gastrointestinal stromal tumor undergoing imatinib therapy: A case report
Hong Jun Kim, Sun Kyung Baek, Chi Hoon Maeng, Si-Young Kim, Tae Sung Park, Jae Joon Han
Hong Jun Kim, Sun Kyung Baek, Chi Hoon Maeng, Si-Young Kim, Jae Joon Han, Department of Hematology and Medical Oncology, Kyung Hee University, Seoul 02447, South Korea
Tae Sung Park, Department of Laboratory Medicine, Kyung Hee University, Seoul 02447, South Korea
Author contributions: Kim HJ reviewed the literature and contributed to manuscript drafting; Baek SK was the patient’s physician until acute leukemia developed, and reviewed the literature; Maeng CH and Kim SY contributed to manuscript drafting; Park TS performed the molecular biological analyses and interpreted the imaging findings; Han JJ was the patient’s physician treating acute leukemia, and reviewed the literature; all authors issued final approval for the version to be submitted.
Informed consent statement: Verbal informed consent was obtained from the patient for publication of this case report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have 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: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Jae Joon Han, MD, PhD, Professor, Department of Hematology and Medical Oncology, Kyung Hee University, Kyungheedae-Ro 23, Dongdaemoon-Gu, Seoul 02447, South Korea. anemia@khu.ac.kr
Received: November 11, 2019
Peer-review started: November 15, 2019
First decision: February 20, 2020
Revised: March 20, 2020
Accepted: March 27, 2020
Article in press: March 27, 2020
Published online: April 6, 2020
Abstract
BACKGROUND

Acute myeloid leukemia (AML) harboring 11q23 translocations is classified as therapy-related AML in patients who have undergone prior treatment with cytotoxic agents. There have been only a few reports of AML that subsequently developed during imatinib mesylate (IM) treatment for gastrointestinal stromal tumors (GISTs).

CASE SUMMARY

A 63-year-old woman was diagnosed with a hepatic GIST recurrence in April 2012; she was administered IM 400 mg/d. In November 2015, she developed dyspnea with pancytopenia while IM treatment was continued for 42 mo. A chromosome study using a bone marrow sample showed a 46, XX karyotype with t(11;19)(q23;p13.1) in 22 of 26 analyzed metaphase cells. Fluorescence in situ hybridization using the locus-specific indicator (11q23) gene break-apart probe showed positive rearrangement in 82% of interphase cells. Reverse-transcription polymerase chain reactions subsequently confirmed the KMT2A/ELL transcript. She achieved complete response with incomplete neutrophil recovery with two decitabine treatment cycles. After the third cycle of decitabine, the disease relapsed, and she refused further treatment. She died of hemorrhagic stroke 5 mo after diagnosis. To the best of our knowledge, this is the first report of AML with KMT2A gene rearrangements in a patient with a GIST receiving IM treatment.

CONCLUSION

Physicians should consider the potential risks of developing hematologic malignancies, including therapy-related AML, in patients with GISTs receiving IM treatment.

Keywords: Acute myeloid leukemia, Gastrointestinal stromal tumor, Imatinib, KMT2A, Myelodysplastic syndrome, Case report

Core tip: To the best of our knowledge, this is the first report of acute myeloid leukemia with KMT2A gene rearrangements in a patient with a gastrointestinal stromal tumor receiving imatinib mesylate (IM) treatment. Although there is no known mechanism by which IM causes acute leukemia, there have been reports supporting the speculation that IM may have a direct mutagenic effect on normal hematopoietic precursors. Physicians should consider the potential risks of developing hematologic malignancies, including therapy-related acute myeloid leukemia, in patients with gastrointestinal stromal tumors receiving IM treatment.