Plasma cell leukemia: genomic features and their potential relevance for exploring clinical actionability

Plasma cell leukemia (PCL) is rare and aggressive. Plasma cells from patients with PCL were examined using next-generation sequencing (NGS). We compared NGS data from 18 patients with PCL (peripheral blood, n = 10; bone marrow, n = 8) and 1742 multiple myeloma (MM) samples. Mutations of TP53, CCND1, and KRAS were commonly observed in both diseases. Alterations in DIS3 (17% vs 1%), CCND2 (22% vs 15%), PIK3R1 (6% vs 0%), and MAP3K1 (6% vs 2%) were more common in PCL than in MM (P< .05). Translocations occurred in 11 (61.1%) patients with PCL; IGH::CCND1 and IGH::MYC were more frequent in PCL than in MM (22% vs 14%, P = not significant and 11% vs 1%, P< .05, respectively). Druggable aberrations in BRAF, CCND1, PIK3R1, and RAS may be targeted in biomarker-driven therapeutic clinical trials.

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Publication Details

Journal
Blood Advances
Published
2025-12-18
DOI
https://doi.org/10.1182/bloodadvances.2025018342
Primary Topic
Multiple Myeloma Research and Treatments
Type
article
Field-Weighted Citation Impact
0.00

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article

Plasma cell leukemia: genomic features and their potential relevance for exploring clinical actionability

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Plasma cell leukemia: genomic features and their potential relevance for exploring clinical actionability

Natalie Danziger, Sabarinath Venniyil Radhakrishnan, Ravi Kishore Narra, Othman Salim Akhtar, Anita D’Souza, Douglas I. Lin, Meera Mohan, Binod Dhakal, Caleb Ho, Marcelo C. Pasquini, Razelle Kurzrock
article en

Abstract

Plasma cell leukemia (PCL) is rare and aggressive. Plasma cells from patients with PCL were examined using next-generation sequencing (NGS). We compared NGS data from 18 patients with PCL (peripheral blood, n = 10; bone marrow, n = 8) and 1742 multiple myeloma (MM) samples. Mutations of TP53, CCND1, and KRAS were commonly observed in both diseases. Alterations in DIS3 (17% vs 1%), CCND2 (22% vs 15%), PIK3R1 (6% vs 0%), and MAP3K1 (6% vs 2%) were more common in PCL than in MM (P< .05). Translocations occurred in 11 (61.1%) patients with PCL; IGH::CCND1 and IGH::MYC were more frequent in PCL than in MM (22% vs 14%, P = not significant and 11% vs 1%, P< .05, respectively). Druggable aberrations in BRAF, CCND1, PIK3R1, and RAS may be targeted in biomarker-driven therapeutic clinical trials.

Blood AdvancesVol. 10(4)
Medical College of Wisconsin (US), Boston Foundation (US), GlobalFoundries (United States) (US)
Bristol-Myers Squibb, Pfizer, Sanofi, Celgene, Janssen Scientific Affairs, Incyte, Grifols, Genentech, Foundation Medicine, Legend Biotech, National Cancer Institute
Openalex Percentile: Top 39%
Multiple Myeloma Research and Treatments
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