Identification of a novel fusion gene MLL‐MAML2 in secondary acute myelogenous leukemia and myelodysplastic syndrome with inv(11)(q21q23)

摘要: We have identified a novel fusion partner of MLL, namely the mastermind like 2 (MAML2 gene), in secondary acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) with inv(11)(q21q23). RT-PCR sequencing revealed that exon 7 MLL was fused to MAML2 AML MDS cells. The inv(11)(q21q23) results creation chimeric RNA encoding putative protein containing 1,408 amino acids from NH2-terminal part 952 COOH-terminal MAML2. MAML2, basic domain including binding site intracellular NOTCH, deleted MLL-MAML2. MLL-MAML2 AML/MDS MECT1-MAML2 mucoepithelioid carcinoma, benign Wartin's tumor, clear cell hidradenoma consist same A luciferase assay suppressed HES1 promoter activation by NOTCH1 domain. involving gene might contribute carcinogenesis multiple neoplasms disruption NOTCH signaling.