title: Identification of a novel t(7;14) translocation in multiple myeloma resulting in overexpression of EGFR.
abstract: IGH translocations in myeloma are a primary event and determine the prognostic outcome of a patient. These events are characterized by FISH and classical cytogenetics, but in a small proportion of samples a translocation involving the IGH locus can be detected but the partner chromosome cannot be identified. These cases are usually genetically complex and are the result of cryptic events that cannot be discerned at the resolution of FISH. Here we analyzed a sample with an unidentified translocation partner using a targeted capture and massively parallel sequencing. We identified the partner chromosome as a t(7;14) with the breakpoint upstream of EGFR. This sample over-expresses the target oncogene, EGFR. This case represents a rare and novel translocation in myeloma, from which a targeted personalized treatment, in the form of EGFR inhibitors, which are commonly used in other cancer types, could be used.
authors.affiliation: Molecular Haematology, Haemato-Oncology Research Unit, Division of Molecular Pathology, The Institute of Cancer Research, London, UK.
authors.forename: Brian A
authors.initials: BA
authors.lastname: Walker
authors.forename: Christopher P
authors.initials: CP
authors.lastname: Wardell
authors.forename: Fiona M
authors.initials: FM
authors.lastname: Ross
authors.forename: Gareth J
authors.initials: GJ
authors.lastname: Morgan
mesh_terms: D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D066246:ErbB Receptors / Q000235:genetics* / Q000378:metabolism; D020869:Gene Expression Profiling; D050438:Genes, Immunoglobulin Heavy Chain; D018773:Genes, erbB-1; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009101:Multiple Myeloma / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: C512478:EGFR protein, human; D066246:ErbB Receptors