title: A molecular diagnostic approach able to detect the recurrent genetic prognostic factors typical of presenting myeloma.
abstract: Risk stratification in myeloma requires an accurate assessment of the presence of a range of molecular abnormalities including the differing IGH translocations and the recurrent copy number abnormalities that can impact clinical behavior. Currently, interphase fluorescence in situ hybridization is used to detect these abnormalities. High failure rates, slow turnaround, cost, and labor intensiveness make it difficult and expensive to use in routine clinical practice. Multiplex ligation-dependent probe amplification (MLPA), a molecular approach based on a multiplex polymerase chain reaction method, offers an alternative for the assessment of copy number changes present in the myeloma genome. Here, we provide evidence showing that MLPA is a powerful tool for the efficient detection of copy number abnormalities and when combined with expression assays, MLPA can detect all of the prognostically relevant molecular events which characterize presenting myeloma. This approach opens the way for a molecular diagnostic strategy that is efficient, high throughput, and cost effective.
authors.affiliation: Division of Molecular Pathology, The Institute of Cancer Research, London, UK; Service des maladies du Sang, Hopital Huriez, Centre Hospitalier Regional Universitaire de Lille, Lille, France.
authors.forename: Eileen M
authors.initials: EM
authors.lastname: Boyle
authors.forename: Paula Z
authors.initials: PZ
authors.lastname: Proszek
authors.forename: Martin F
authors.initials: MF
authors.lastname: Kaiser
authors.forename: Dil
authors.initials: D
authors.lastname: Begum
authors.forename: Nasrin
authors.initials: N
authors.lastname: Dahir
authors.forename: Suvi
authors.initials: S
authors.lastname: Savola
authors.forename: Christopher P
authors.initials: CP
authors.lastname: Wardell
authors.forename: Xavier
authors.initials: X
authors.lastname: Leleu
authors.forename: Fiona M
authors.initials: FM
authors.lastname: Ross
authors.forename: Laura
authors.initials: L
authors.lastname: Chiecchio
authors.forename: Gordon
authors.initials: G
authors.lastname: Cook
authors.forename: Mark T
authors.initials: MT
authors.lastname: Drayson
authors.forename: Richard G
authors.initials: RG
authors.lastname: Owen
authors.forename: John M
authors.initials: JM
authors.lastname: Ashcroft
authors.forename: Graham H
authors.initials: GH
authors.lastname: Jackson
authors.forename: James
authors.initials: J
authors.lastname: Anthony Child
authors.forename: Faith E
authors.initials: FE
authors.lastname: Davies
authors.forename: Brian A
authors.initials: BA
authors.lastname: Walker
authors.forename: Gareth J
authors.initials: GJ
authors.lastname: Morgan
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor / Q000235:genetics*; D055088:Early Detection of Cancer / Q000379:methods; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D009101:Multiple Myeloma / Q000175:diagnosis / Q000235:genetics*; D060885:Multiplex Polymerase Chain Reaction; D011237:Predictive Value of Tests
chemical_list: D014408:Biomarkers, Tumor