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Prashant Kapoor, MD, FACP


Extended Genetic Profiling May Improve Risk Prediction in Transplant-Eligible Patients With Myeloma

By: Amy MacDonald, MS
Posted: Wednesday, March 15, 2023

The clinical outcome for newly diagnosed patients with multiple myeloma who receive melphalan and autologous stem cell transplantation (ASCT) varies widely. An understanding of the factors that contribute to early relapse in these patients would be beneficial. Of note, recent clinical trial data suggest that patients with multiple myeloma who harbor two or more specific adverse genetic lesions—including but not limited to t(4;14), t(14;16), t(14;20), gain(1q), and del(17p)—tend to experience more adverse outcomes.

Martin F. Kaiser MD, of The Institute of Cancer Research, London, and colleagues hoped to unravel the relevance of these specific genetic markers and their potential use as prognostic markers during standard-of-care therapy for multiple myeloma. Published in the journal HemaSphere (powered by the European Hematology Association), the study suggested a strong association between the presence of two or more multiple myeloma–specific genetic risk factors and a high risk for early relapse following standard ASCT.

The researchers retrospectively reviewed the electronic medical records of 139 newly diagnosed patients with multiple myeloma who were treated with ASCT at the Royal Marsden Hospital NHS Foundation Trust between January 2014 and October 2019. Cytogenetic risk markers t(4;14), t(14;16), t(14;20), gain(1q), and del(17p) were assessed for most of these patients from the year 2014 onward using fluorescent in situ hybridization. Co-occurrence of at least two lesions was classified as a “double hit,” and a single lesion was defined as a “single hit.”

A total of 139 patients (51.0%) were found to have no hits, 39.6% had a single hit, and 9.4% harbored double hits. Using multivariate analysis, the number of genetic hits (hazard ratio [HR] = 4.27, 95% confidence interval [CI] = 2.00–9.10, P < .001 for a double hit; HR = 3.21, 95% CI = 1.80–5.73, P < .001 for a single hit) was associated with shortened progression-free survival.

The authors concluded that detailed genetic profiling at diagnosis for all patients with multiple myeloma who plan to receive standard-of-care ASCT is warranted.

Disclosure: For full disclosures of the study authors, visit

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