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Updated: Jan 15, 2026

An Organotypic High Throughput System for Characterization of Drug Sensitivity of Primary Multiple Myeloma Cells
Published on: July 15, 2015
Cytogenetic Testing in Newly Diagnosed Multiple Myeloma: Real World Evidence on Clinical Features and Adverse
Ghassan Zammar1, Bradley Augustson1, Elizabeth Moore2
1Haematology, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
Background:
The International Myeloma Society/International Myeloma Working Group (IMS-IMWG) recently redefined high-risk multiple myeloma (MM), specifying that gain(1q) confers high risk only when co-occurring with monoallelic del(1p), whilst immunoglobulin heavy chain (IgH) translocations (t[4;14], t[14;16], t[14;20]) are considered high risk only when accompanied by gain(1q) or del(1p).
Methods:
Data from 5927 newly diagnosed MM (NDMM) patients in the Australian and New Zealand Myeloma and Related Diseases Registry (MRDR) were analyzed. Fluorescence in situ hybridization (FISH) data were available for 3397 (57%) patients. High-risk cytogenetic abnormalities (HRCA) included t(4;14), t(14;16), del(17p), and gain(1q). Clinical characteristics and outcomes were compared by the number of HRCA present.
Results:
Patients with multiple HRCA more frequently presented with anemia, thrombocytopenia, hypercalcemia, greater bone marrow plasma cell burden, elevated lactate dehydrogenase, higher β2-microglobulin levels, and IgA paraprotein secretion. Increasing HRCA burden was associated with significantly shorter progression-free survival (PFS) and overall survival (OS). Although overall response rates to first-line therapies were similar across groups, the duration of response declined with increasing HRCA number. Each HRCA independently conferred poorer outcomes compared with no HRCA, with del(17p) associated with the shortest PFS and OS. The addition of another HRCA did not significantly alter outcomes in del(17p) patients.
Conclusion:
The cumulative burden of high-risk cytogenetic abnormalities predicts inferior survival in NDMM, underscoring the need for refined risk stratification and tailored therapeutic strategies.
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