Published online 19 May 2009
Haematologica, Vol 94, Issue 7, 1024-1028 doi:10.3324/haematol.2008.004440
Copyright © 2009 by Ferrata Storti Foundation
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Multiple Myeloma

Loss of 1p and rearrangement of MYC are associated with progression of smouldering myeloma to myeloma: sequential analysis of a single case

Laura Chiecchio1, Gian Paolo Dagrada1, Rebecca K.M. Protheroe1, David M. Stockley1, Alastair G. Smith2, Kim H. Orchard2,3, Nicholas C.P. Cross1, Christine J. Harrison4, Fiona M. Ross1 on behalf of the UK Myeloma Forum

1 Leukaemia Research Fund UK Myeloma Forum Cytogenetics Group, Human Genetics Division, University of Southampton, Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wilts;
2 Department of Haematology, Southampton University Hospital NHS Trust, Southampton General Hospital, Southampton;
3 Cancer Sciences Division, University of Southampton, Southampton and
4 Leukaemia Research Cytogenetics Group, Northern Institute for Cancer Research, Newcastle University, Newcastle-upon-Tyne, UK

Correspondence: Laura Chiecchio, Myeloma Cytogenetics Group, Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wilts SP2 8BJ, UK. E-mail:laura.chiecchio{at}salisbury.nhs.uk

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.

Key words: smouldering multiple myeloma, plasma cell, chromosomal abnormality, progression, arrayCGH.