SETBP1 and miR_4319 dysregulation in primary myelofibrosis progression to acute myeloid leukemia

• Published in: Journal of hematology and oncology Vol. 5; no. 1; p. 48
• Main Authors: Albano, Francesco, Anelli, Luisa, Zagaria, Antonella, Coccaro, Nicoletta, Casieri, Paola, Minervini, Angela, Specchia, Giorgina
• Format: Journal Article
• Language: English
• Published: London BioMed Central 08.08.2012; BioMed Central Ltd; BMC
• Subjects: Aged; Artificial chromosomes; Bone marrow; Cancer Research; Carrier Proteins - genetics; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 18; Cloning; Colleges & universities; Development and progression; Disease Progression; Experiments; Gene Expression Regulation, Leukemic; Genes; Genetics; Hematology; Humans; Intronic miRNA; Kinases; Letter to the Editor; Leukemia, Myeloid, Acute - genetics; Male; Medicine; Medicine & Public Health; MicroRNA; MicroRNAs - genetics; Mutation; Myelocytic leukemia; Myelofibrosis; Nonlymphoid leukemia; Nuclear Proteins - genetics; Oncology; Primary Myelofibrosis - genetics; Primary myelofibrosis progression; Protein binding; Proteins; SETBP1 and miR_4319 dysregulation; T(12;18)(p13;q12) translocation; Translocation, Genetic; Tumors; and miR_4319 dysregulation; Intronic miRNA; T(12;18)(p13;q12) translocation; Primary myelofibrosis progression
• ISSN: 1756-8722; 1756-8722
• DOI: 10.1186/1756-8722-5-48

The molecular pathogenesis underlying the primary myelofibrosis (PMF) progression to acute myeloid leukemia (AML) is still not well defined. The involvement of microRNA (miRNA) is actually helping to shed light on an important issue in the occurrence of myeloproliferative neoplasms (MPNs). However, the role of intronic miRNA, derived from the intron regions of gene transcripts, has never been reported in MPNs. In this study, we describe a PMF case evolved to AML with a t(12;18)(p13;q12) rearrangement showing the downregulation of the intronic miR_4319 and the overexpression of its host gene, SET binding protein ( SETBP1 ). A possible molecular mechanism regulating the PMF progression to AML is discussed.