title: Multicolor interphase cytogenetics for the study of plasma cell dyscrasias.
abstract: Specific chromosomal abnormalities such as chromosome 13 deletions and some translocations affecting the immunoglobulin heavy chain (IGH) gene, namely t(4;14)(p16;q32) and t(14;16)(q32;q23) have been associated with an adverse prognosis in multiple myeloma. Conventional cytogenetic techniques fail to detect these aberrations in the majority of cases. Thus, we have developed a novel set of interphase fluorescence in situ hybridization (I-FISH) assays targeting those regions frequently lost on chromosome 13 as well as those oncogenes most recurrently involved in translocations with the IGH locus in multiple myeloma, i.e. IRTA1/2 (1q21), FGFR3/MMSET (4p16), CCND3 (6p21), IRF4 (6p25), CCND1 (11q13), MAF (16q23), and MAFB (20q12). The probes were combined in a multicolor fashion to develop novel multicolor I-FISH (MI-FISH) assays, whose validity and applicability was evaluated in negative controls and in a series of 13 plasma cell neoplasias. Additionally, a combination of the novel MI-FISH assays with staining for the plasma cell-specific antigen VS38c by means of multicolor FICTION (M-FICTION, fluorescence immunophenotyping and interphase cytogenetics as a tool for the investigation of neoplasms) allowed us to selectively analyze the plasma cell compartment, and thereby to increase the assay sensitivity.
authors.affiliation: Department of Genetics, University of Navarra, 31008 Pamplona, Navarra, Spain. bsaezoch@alumni.unav.es
authors.forename: Borja
authors.initials: B
authors.lastname: Sáez
authors.forename: José I
authors.initials: JI
authors.lastname: Martín-Subero
authors.forename: María D
authors.initials: MD
authors.lastname: Odero
authors.forename: Felipe
authors.initials: F
authors.lastname: Prosper
authors.forename: Juan C
authors.initials: JC
authors.lastname: Cigudosa
authors.forename: Robert
authors.initials: R
authors.lastname: Schoch
authors.forename: María J
authors.initials: MJ
authors.lastname: Calasanz
authors.forename: Reiner
authors.initials: R
authors.lastname: Siebert
mesh_terms: D000368:Aged; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009101:Multiple Myeloma / Q000235:genetics* / Q000473:pathology; D010265:Paraproteinemias / Q000235:genetics* / Q000473:pathology; D010950:Plasma Cells / Q000473:pathology*; D014178:Translocation, Genetic
chemical_list: D007143:Immunoglobulin Heavy Chains