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

Chiecchio, Laura, Dagrada, Gian Paolo, Protheroe, Rebecca K.M., Stockley, David M., Smith, Alastair G., Orchard, Kim H., Cross, Nicholas C.P., Harrison, Christine J. and Ross, Fiona M. (2009) Loss of 1p and rearrangement of MYC are associated with progression of smouldering myeloma to myeloma: sequential analysis of a single case. Haematologica, 94 (7), 1024-1028. (doi:10.3324/haematol.2008.004440).

Abstract

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

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Contributors

Author: Kim H. Orchard

Author: Nicholas C.P. Cross

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