Abstract
We present a case of acute myeloid leukemia (AML) with a balanced translocation between chromosomes 2q12 and 6q12, t(2;6)(q12;q12). This abnormality was defined by conventional cytogenetics and multicolor banding techniques using specific probes for chromosome 2. Blasts accounted for 2% of white blood cells in peripheral blood and approximately 30% of all nucleated cells in marrow aspirates. They were medium-to-large cells with fine nuclear chromatin, indistinct nucleoli and basophilic cytoplasm. Immunophenotyping indicated the blasts were of myeloid lineage with aberrant CD7 expression. Therefore, the patient was diagnosed as ‘Acute myeloid leukemia, NOS, AML with maturation’ according to the WHO classifications. In literature review, this case should be considered as the first report of AML with t(2;6)(q12;q12). Interestingly, a bone marrow smear showed dysmegakaryopoietic findings, such as multinucleated or mononucleated megakaryocytes and micromegakaryocytes. After diagnosis, the induction chemotherapy was given with idarubicin and cytosine arabinoside according to the protocol of intermediate-prognostic AML. After chemotherapy, the patient had been in remission for 13 months but relapsed with 54% blasts in marrow aspirates. The cytogenetic analysis revealed t(2;6)(q12;q12), which is same with karyotype shown at diagnosis. In this case report, the pathologic and clinical findings of AML with t(2;6)(q12;q12) were described, which are severe dysmegakaryopoiesis and poor prognosis. This report may be helpful for clinician to have a similar case treated
Highlights
We present a case of acute myeloid leukemia (AML) with a balanced translocation between chromosomes 2q12 and 6q12, t(2;6)(q12;q12)
Blasts were medium- to large sized cells with fine nuclear chromatin, indistinct nucleoli and basophilic cytoplasm and accounted for approximately 30% of all nucleated cells in the marrow aspirates (Figure 1a)
Blasts were medium-to-large cells with fine nuclear chromatin, indistinct nucleoli and basophilic cytoplasm and accounted for approximately 30% of all nucleated cells in the marrow aspirates
Summary
We present a case of acute myeloid leukemia (AML) with a balanced translocation between chromosomes 2q12 and 6q12, t(2;6)(q12;q12). Blasts were medium- to large sized cells with fine nuclear chromatin, indistinct nucleoli and basophilic cytoplasm and accounted for approximately 30% of all nucleated cells in the marrow aspirates (Figure 1a). Arabinoside 200 mg/m2/day in day 1-7 according to the protocol of intermediate-prognostic AML and become the remission state including cytogenetically normal karyotype. Remission stated was continued during 13 months but AML was relapsed with 54% blasts in marrow aspirates.
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