ADAMTS2 gene dysregulation in T/myeloid mixed phenotype acute leukemia.

摘要

Background: Mixed phenotype acute leukemias (MPAL) include acute leukemias with blasts that express antigens\udof more than one lineage, with no clear evidence of myeloid or lymphoid lineage differentiation. T/myeloid (T/My)\udMPAL not otherwise specified (NOS) is a rare leukemia that expresses both T and myeloid antigens, accounting\udfor less than 1% of all leukemias but 89% of T/My MPAL. From a molecular point of view, very limited data are\udavailable on T/My MPAL NOS.\udCase presentation: In this report we describe a T/My MPAL NOS case with a complex rearrangement involving\udchromosomes 5 and 14, resulting in overexpression of the ADAM metallopeptidase with thrombospondin type 1\udmotif, 2 (ADAMTS2) gene due to its juxtaposition to the T cell receptor delta (TRD) gene segment.\udConclusion: Detailed molecular cytogenetic characterization of the complex rearrangement in the reported T/My\udMPAL case allowed us to observe ADAMTS2 gene overexpression, identifying a molecular marker that may be useful\udfor monitoring minimal residual disease. To our knowledge, this is the first evidence of gene dysregulation due to a\udchromosomal rearrangement in T/My MPAL NOS.\udKeywords: Mixed phenotype acute leukemia, ADAMTS2, TRD, Complex chromosomal rearrangement, Promoter\udswapping, Gene dysregulation