Abstract
Acute megakaryoblastic leukemia (AMKL) in children without Down syndrome (DS) has an extremely poor outcome with 3-year survival of less than 40%, whereas AMKL in children with DS has an excellent survival rate. Recently, a novel recurrent translocation involving CBFA2T3 and GLIS2 was identified in about 30% of children with non-DS AMKL, and the fusion gene was reported as a strong poor prognostic factor in pediatric AMKL. We report the difficult clinical courses of pediatric patients with AMKL harboring the CBFA2T3-GLIS2 fusion gene.
Highlights
Acute megakaryoblastic leukemia (AMKL) is classified as M7 in the FAB (French-American-British) classification
A novel recurrent translocation involving CBFA2T3 and GLIS2 was identified in about 30% of children with non-Down syndrome (DS) AMKL, and the fusion gene was reported as a strong poor prognostic factor in pediatric AMKL
We report the difficult clinical courses of pediatric patients with AMKL harboring the CBFA2T3-GLIS2 fusion gene
Summary
Acute megakaryoblastic leukemia (AMKL) is classified as M7 in the FAB (French-American-British) classification. We report the difficult clinical courses of two pediatric patients with AMKL harboring the CBFA2T3-GLIS2 fusion gene. Patient 1 with the CBFA2T3-GLIS2 fusion gene was treated under the AML05 protocol of the Japanese Pediatric Leukemia/ Lymphoma Study Group [7] and could not achieve CR after induction 1 therapy (Figure 1C). Patient 3 with the CBFA2T3-GLIS2 fusion gene was treated under the AML99 protocol [8] and could not achieve CR after induction A therapy (Figure 1E). She did not achieve CR even after several types of chemotherapy. Despite treatment with drugs including imatinib and L-asparaginase, she died 23 months after bone marrow transplantation
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