Published online Apr 6, 2020. doi: 10.12998/wjcc.v8.i7.1251
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
Processing time: 142 Days and 23.2 Hours
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).
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.
Physicians should consider the potential risks of developing hematologic malignancies, including therapy-related AML, in patients with GISTs receiving IM treatment.
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.