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Primary plasma cell leukemias displaying t(11;14) have specific genomic, transcriptional, and clinical features

Titouan Cazaubiel Xavier Leleu 1 Aurore Perrot 2 Salomon Manier 3 Laure Buisson 4, 5 Sabrina Maheo 4, 5 Laura Do Souto Ferreira Romain Lannes 6 Luka Pavageau Cyrille Hulin 7 Jean-Pierre Marolleau 8, 9 Laurent Voillat 10 Karim Belhadj 11 Marion Divoux 12 Borhane Slama 13 Sabine Brechignac 14 Margaret Macro 15 Anne-Marie Stoppa 16 Laurence Sanhes 17 Frederique Orsini-Piocelle 18 Jean Fontan 19 Marie-Lorraine Chretien 20 Helene Demarquette 21 Mohamad Mohty 22, 23 Anais Schavgoulidze 24 Herve Avet-Loiseau 4, 25 Jill Corre 5 
Abstract : Primary plasma cell leukemia (pPCL) is an aggressive form of multiple myeloma (MM) that has not benefited from recent therapeutic advances in the field. Because it is very rare and heterogeneous, it remains poorly understood at the molecular level. To address this issue, we performed DNA and RNA sequencing of sorted plasma cells from a large cohort of 90 newly diagnosed pPCL and compared with MM. We observed that pPCL presents a specific genomic landscape with a high prevalence of t(11;14) (about half) and high-risk genomic features such as del(17p), gain 1q, and del(1p32). In addition, pPCL displays a specific transcriptome when compared with MM. We then wanted to characterize specifically pPCL with t(11;14). We observed that this subentity displayed significantly fewer adverse cytogenetic abnormalities. This translated into better overall survival when compared with pPCL without t(11;14) (39.2 months vs 17.9 months, P 5 .002). Finally, pPCL with t(11;14) displayed a specific transcriptome, including differential expression of BCL2 family members. This study is the largest series of patients with pPCL reported so far.
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https://hal-u-picardie.archives-ouvertes.fr/hal-03684088
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Soumis le : mercredi 1 juin 2022 - 10:40:28
Dernière modification le : lundi 4 juillet 2022 - 08:52:31

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Titouan Cazaubiel, Xavier Leleu, Aurore Perrot, Salomon Manier, Laure Buisson, et al.. Primary plasma cell leukemias displaying t(11;14) have specific genomic, transcriptional, and clinical features. BLOOD, 2022, 139 (17), pp.2666-2672. ⟨10.1182/blood.2021014968⟩. ⟨hal-03684088⟩

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