title: Detection of t(4;14)(p16.3;q32) chromosomal translocation in multiple myeloma by reverse transcription-polymerase chain reaction analysis of IGH-MMSET fusion transcripts.
abstract: We and others have recently identified a novel recurring t(4;14)(p16.3; q32) translocation in multiple myeloma (MM) that leads to an apparent deregulation of the FGFR3 and WHSC1/MMSET genes. Because the presence of IGH-MMSET hybrid transcripts has been found in MM cell lines with t(4;14), they may represent a specific tumor-associated marker in MM. In this study, we developed a reverse transcription-PCR (RTPCR) assay for detecting chimeric transcripts from all of the 4p16.3 breakpoints identified thus far, and we used it to investigate a representative panel of 53 MM patients and 16 patients with monoclonal gammopathy of uncertain significance; in addition, t(4;14) was investigated in all of the MM patients by means of two-color fluorescence in situ hybridization. IGH-MMSET transcripts were found in 11 of the 53 (20%) MM cases and 1 of 16 (6%) cases of monoclonal gammopathy of uncertain significance. There was complete concordance between the RT-PCR and fluorescence in situ hybridization analyses of the MM cases. The results of this study indicate that RT-PCR is a sensitive and reliable method of detecting t(4;14) and suggest that it may be useful for monitoring the disease in a significant proportion of patients.
authors.affiliation: Hematology Service, Università degli Studi di Milano, Ospedale Maggiore IRCCS, Milan, Italy.
authors.forename: U
authors.initials: U
authors.lastname: Malgeri
authors.forename: L
authors.initials: L
authors.lastname: Baldini
authors.forename: V
authors.initials: V
authors.lastname: Perfetti
authors.forename: S
authors.initials: S
authors.lastname: Fabris
authors.forename: M C
authors.initials: MC
authors.lastname: Vignarelli
authors.forename: G
authors.initials: G
authors.lastname: Colombo
authors.forename: V
authors.initials: V
authors.lastname: Lotti
authors.forename: S
authors.initials: S
authors.lastname: Compasso
authors.forename: S
authors.initials: S
authors.lastname: Bogni
authors.forename: L
authors.initials: L
authors.lastname: Lombardi
authors.forename: A T
authors.initials: AT
authors.lastname: Maiolo
authors.forename: A
authors.initials: A
authors.lastname: Neri
mesh_terms: D000328:Adult; D000368:Aged; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D009101:Multiple Myeloma / Q000235:genetics* / Q000473:pathology; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D010265:Paraproteinemias / Q000235:genetics; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: C115494:IgH-MMSET fusion protein, human; D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger