title: A new recurrent chromosomal translocation t(3;11)(q13;q14) in myelodysplastic syndromes associated with overexpression of the ILDR1 gene.
abstract: Myelodysplastic syndromes (MDS) are a heterogeneous group of diseases characterized by ineffective hematopoiesis and an increased risk of evolution to acute myeloid leukemia (AML). In this study, the combination of conventional cytogenetic, FISH studies and molecular techniques allowed us to unveil a novel recurrent t(3;11)(q13;q14) causing the overexpression of the immunoglobulin-like domain-containing receptor (ILDR1) gene. The analysis of gene expression was extended to Refractory Anemia (RA) and Refractory Anemia with excess blasts (RAEB) cases revealing ILDR1 overexpression in 36% of RAEB subgroup. The biological implications of the ILDR1 overexpression in MDS pathogenesis and its potential prognostic significance should be further investigated.
authors.affiliation: Department of Emergency and Organ Transplantation, Hematology Section, University of Bari, 70124 Bari, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Zagaria
authors.forename: Luisa
authors.initials: L
authors.lastname: Anelli
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Coccaro
authors.forename: Paola
authors.initials: P
authors.lastname: Casieri
authors.forename: Angela
authors.initials: A
authors.lastname: Minervini
authors.forename: Valentina
authors.initials: V
authors.lastname: Buttiglione
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ricco
authors.forename: Giorgina
authors.initials: G
authors.lastname: Specchia
authors.forename: Francesco
authors.initials: F
authors.lastname: Albano
mesh_terms: D000368:Aged; D000753:Anemia, Refractory / Q000235:genetics; D000754:Anemia, Refractory, with Excess of Blasts / Q000235:genetics; D016022:Case-Control Studies; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics; D015854:Up-Regulation / Q000235:genetics
chemical_list: C493788:ILDR1 protein, human; D011956:Receptors, Cell Surface