Acute myeloid leukemia with t(11;19)(q23;p13.1) in a patient with a gastrointestinal stromal tumor undergoing imatinib therapy: A case report

• Published in: World journal of clinical cases 2020-04, Vol.8 (7), p.1251-1256
• Main Authors: Kim, Hong Jun, Baek, Sun Kyung, Maeng, Chi Hoon, Kim, Si-Young, Park, Tae Sung, Han, Jae Joon
• Format: Article
• Language: English
• Subjects: Case Report
• ISSN: 2307-8960; 2307-8960
• DOI: 10.12998/wjcc.v8.i7.1251

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 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 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.