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 ...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.展开更多
文摘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.
