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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.
The cumulative burden of high-risk cytogenetic abnormalities (HRCA) in newly diagnosed multiple myeloma (NDMM) significantly predicts shorter progression-free and overall survival. More HRCA correlate with poorer outcomes, necessitating refined risk stratification and personalized treatment strategies.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Recent International Myeloma Society/International Myeloma Working Group (IMS-IMWG) guidelines redefined high-risk multiple myeloma (MM) criteria.
- Specific cytogenetic abnormalities like gain(1q) and immunoglobulin heavy chain (IgH) translocations are considered high-risk only when co-occurring with other specific genetic events.
Purpose of the Study:
- To evaluate the impact of the cumulative burden of high-risk cytogenetic abnormalities (HRCA) on clinical characteristics and outcomes in newly diagnosed multiple myeloma (NDMM).
- To assess the prognostic value of the number of HRCA in NDMM patients.
Main Methods:
- Analysis of data from 5927 newly diagnosed MM (NDMM) patients from the Australian and New Zealand Myeloma and Related Diseases Registry (MRDR).
- Fluorescence in situ hybridization (FISH) data were available for 3397 patients.
- High-risk cytogenetic abnormalities (HRCA) included t(4;14), t(14;16), del(17p), and gain(1q); outcomes were compared based on the number of HRCA present.
Main Results:
- Patients with multiple HRCA exhibited more severe clinical features, including anemia, thrombocytopenia, hypercalcemia, and higher bone marrow plasma cell burden.
- An increasing number of HRCA was significantly associated with shorter progression-free survival (PFS) and overall survival (OS).
- While initial response rates were similar, the duration of response decreased with a higher HRCA burden; del(17p) was associated with the poorest outcomes.
Conclusions:
- The cumulative burden of HRCA is a strong predictor of inferior survival in NDMM.
- These findings highlight the importance of comprehensive cytogenetic profiling for accurate risk stratification.
- Tailored therapeutic strategies based on the HRCA burden are essential for improving patient outcomes in NDMM.
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