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Lookup NU author(s): Professor Christine Harrison FRCPath FMedSci
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We report serial genetic studies on a young female patient initially diagnosed with asymptomatic smouldering myeloma who progressed to symptomatic myeloma 4.5 years after presentation. An unbalanced translocation, der(14)t(4;14)(p16;q32), was initially found in all plasma cells plus deletions of other chromosomal regions as detected by array-based comparative genomic hybridization. Deletion of chromosome 13 was observed in a minor population of plasma cells (<20%) for the first two years, increasing to 100% of plasma cells by the time of multiple myeloma diagnosis. Loss of 1p and a rearrangement of MYC were first observed in a small population of plasma cells one year prior to the clinical diagnosis of multiple myeloma, but these subclones increased rapidly in size to become the major population suggesting that they were directly involved in the transformation process. This case report provides a unique insight into the mechanisms of disease progression from smouldering multiple myeloma to multiple myeloma.
Author(s): Chiecchio L, Dagrada GP, Protheroe RK, Stockley DM, Smith AG, Orchard KH, Cross NCP, Harrison CJ, Ross FM
Publication type: Article
Publication status: Published
ISSN (print): 0390-6078
ISSN (electronic): 1592-8721
Publisher: Fondazione Ferrata Storti
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