High-risk genomic consensus validation for patients with newly diagnosed multiple myeloma using next-generation sequencing

A Anaïs Schavgoulidze (Institut Universitaire du Cancer de Toulouse-Oncopole, Toulouse, France) A Aurore Perrot X Xavier Leleu (Service Hématologie, Hôpital Universitaire de Poitiers, Poitiers, France) T Titouan Cazaubiel (4Department of Hematology, Centre Hospitalo-Universitaire de Bordeaux, Bordeaux, France) M Marie-Lorraine Chretien (5Department of Hematology, Centre Hospitalo-Universitaire de Dijon, Dijon, France) P Pierre Feugier (2Service Hématologie, Centre Hospitalier Régional Universitaire de Nancy–Hôpital Brabois, Université de Lorraine, Nancy, France) K Karim Belhadj (7Department of Hematology, Créteil Hospital, Assistance Publique–Hôpitaux de Paris, Paris, France) S Salomon Manier M Murielle Roussel (9Department of Hematology, Centre Hospitalo-Universitaire de Limoges, Limoges, France) S Sabine Brechignac (10Department of Hematology, Bobigny Hospital, Assistance Publique–Hôpitaux de Paris, Paris, France) F Frédérique Orsini-Piocelle (11Department of Hematology, Centre Hospitalier Annecy Genevois, Epagny Metz-Tessy, France) M Mohamad Mohty J Jean-Marc Schiano de Collela (13Department of Hematology, Institut Paoli-Calmettes, Marseille, France) M Margaret Macro (Service Hématologie, Institut Hématologie de Basse Normandie, Hôpital Universitaire de Caen, Caen, France) D Didier Adiko (15Department of Hematology, Centre Hospitalier Libourne, Libourne, France) M Mamoun Dib (16Department of Hematology, Centre Hospitalo-Universitaire de Angers, Angers, France) J Jean Fontan (17Department of Hematology, Centre Hospitalier Besançon, Besançon, France) C Carine Luttiau-Motard (18Department of Hematology, Centre Hospitalier Niort, Niort, France) D Didier Bouscary (19Department of Hematology, Cochin Hospital, Assistance Publique–Hôpitaux de Paris, Paris, France) L Laurent Pascal (20Department of Hematology, Centre Hospitalier Saint-Vincent, Lille, France) V Virginie Roland (21Department of Hematology, Centre Hospitalier Perpignan, Perpignan, France) F Francois Lifermann J Jana Bakala (23Department of Hematology, Centre Hospitalier Lens, Lens, France) L Lydia Montes (24Department of Hematology, Centre Hospitalo-Universitaire de Amiens, Amiens, France) C Céline Kennel (25Department of Hematology, Centre Hospitalier Chalon, Chalon-sur-Saône, France) P Philippe Rey (Centre Léon Bérard, Lyon, France) V Valentine Richez (27Département de Hématologie, Centre Hospitalo-Universitaire de Nice, Nice, France) F Faiza Keddar (28Département de Hématologie, Centre Hospitalier Valenciennes, Valenciennes, France) L Laurent Frenzel C Claire Calmettes (30Department of Hematology, Centre Hospitalier Périgueux, Périgueux, France) C Carine Chaleteix (Service Hématologie, Hôpital Universitaire de Clermont-Ferrand, Clermont-Ferrand, France) I Isabelle Plantier (32Department of Hematology, Centre Hospitalier Roubaix, Roubaix, France) E Emilie Chalayer (33Department of Hematology, Centre Hospitalo-Universitaire de Saint-Etienne, Saint-Etienne, France) A Anna Schmitt C Christophe Roul (35Department of Hematology, Centre Hospitalier La Rochelle, La Rochelle, France) H Hélène Demarquette (36Department of Hematology, Centre Hospitalier Dunkerque, Dunkerque, France) C Chloe Cerutti (Institut Universitaire du Cancer de Toulouse-Oncopole, 31100, France) L Luka Pavageau (1Unit for Genomics in Myeloma, University Hospital, University of Toulouse, Institut Universitaire du Cancer Toulouse Oncopole, Centre de Recherches en Cancérologie de Toulouse, Toulouse, France) L Laure Derrier (1Unit for Genomics in Myeloma, University Hospital, University of Toulouse, Institut Universitaire du Cancer Toulouse Oncopole, Centre de Recherches en Cancérologie de Toulouse, Toulouse, France) H Hervé Avet-Loiseau (Unité Génomique du Myélome, Hôpital Universitaire de Toulouse Oncopole, Université de Toulouse, Toulouse, France) J Jill Corre (Unité Génomique du Myélome, Hôpital Universitaire de Toulouse Oncopole, Université de Toulouse, Toulouse, France)

Abstract

Abstract The prognostic heterogeneity of multiple myeloma is mainly driven by the genomic features of myeloma cells. The International Myeloma Society (IMS)/International Myeloma Working Group (IMWG) recently proposed a high-risk (HR) genomic model to have a consensus definition of genomic risk. We performed next-generation sequencing in the form of a panel on samples from 6528 patients with newly diagnosed multiple myeloma (NDMM) and 1583 patients at first relapse between 2019 and 2024. We observed that 22.4% of patients at diagnosis and 36.7% of patients at first relapse were classified as high risk according to the Consensus Genomic Staging. Clinical data were available for 2695 patients at diagnosis. After a median follow-up of 35 months, the median progression-free survival (PFS) was 30 months for patients with HR NDMM and 51 months for standard-risk (SR) patients (P< .0001). The HR cytogenetic criteria from the Revised- International Staging System score were not able to differentiate between HR and SR patients based on the IMS/IMWG genomic subgroups. Looking at each criterion independently, we found that the presence of del(17p), TP53 mutation, biallelic del(1p32), or the combination of intermediate-risk cytogenetics (gain 1q, del(1p32), t(4;14), t(14;16), t(14;20)) significantly reduced the PFS when compared with SR patients. Moreover, patients with several cumulating criteria had an even worse prognosis. Among SR patients, classified according to the genomic definition with normal creatinine, the median PFS for those with high β2-microglobulin was not significantly different from that of patients with normal β2-microglobulin level. This study validated the IMS/IMWG genomic definition of HR myeloma in a large cohort of patients diagnosed from 2019 onwards.

Article Details

Journal Blood
Volume / Issue Vol. 147, Issue 3
Published January 15, 2026
Pages 266-275
ISSN 0006-4971
Publisher Elsevier BV

Journal Info

Blood

Elsevier BV

ISSN: 0006-4971 Health Sciences

Authors (41)

A

Anaïs Schavgoulidze

Institut Universitaire du Cancer de Toulouse-Oncopole, Toulouse, France

A

Aurore Perrot

X

Xavier Leleu

Service Hématologie, Hôpital Universitaire de Poitiers, Poitiers, France

T

Titouan Cazaubiel

4Department of Hematology, Centre Hospitalo-Universitaire de Bordeaux, Bordeaux, France

M

Marie-Lorraine Chretien

5Department of Hematology, Centre Hospitalo-Universitaire de Dijon, Dijon, France

P

Pierre Feugier

2Service Hématologie, Centre Hospitalier Régional Universitaire de Nancy–Hôpital Brabois, Université de Lorraine, Nancy, France

K

Karim Belhadj

7Department of Hematology, Créteil Hospital, Assistance Publique–Hôpitaux de Paris, Paris, France

S

Salomon Manier

M

Murielle Roussel

9Department of Hematology, Centre Hospitalo-Universitaire de Limoges, Limoges, France

S

Sabine Brechignac

10Department of Hematology, Bobigny Hospital, Assistance Publique–Hôpitaux de Paris, Paris, France

F

Frédérique Orsini-Piocelle

11Department of Hematology, Centre Hospitalier Annecy Genevois, Epagny Metz-Tessy, France

M

Mohamad Mohty

J

Jean-Marc Schiano de Collela

13Department of Hematology, Institut Paoli-Calmettes, Marseille, France

M

Margaret Macro

Service Hématologie, Institut Hématologie de Basse Normandie, Hôpital Universitaire de Caen, Caen, France

D

Didier Adiko

15Department of Hematology, Centre Hospitalier Libourne, Libourne, France

M

Mamoun Dib

16Department of Hematology, Centre Hospitalo-Universitaire de Angers, Angers, France

J

Jean Fontan

17Department of Hematology, Centre Hospitalier Besançon, Besançon, France

C

Carine Luttiau-Motard

18Department of Hematology, Centre Hospitalier Niort, Niort, France

D

Didier Bouscary

19Department of Hematology, Cochin Hospital, Assistance Publique–Hôpitaux de Paris, Paris, France

L

Laurent Pascal

20Department of Hematology, Centre Hospitalier Saint-Vincent, Lille, France

V

Virginie Roland

21Department of Hematology, Centre Hospitalier Perpignan, Perpignan, France

F

Francois Lifermann

J

Jana Bakala

23Department of Hematology, Centre Hospitalier Lens, Lens, France

L

Lydia Montes

24Department of Hematology, Centre Hospitalo-Universitaire de Amiens, Amiens, France

C

Céline Kennel

25Department of Hematology, Centre Hospitalier Chalon, Chalon-sur-Saône, France

P

Philippe Rey

Centre Léon Bérard, Lyon, France

V

Valentine Richez

27Département de Hématologie, Centre Hospitalo-Universitaire de Nice, Nice, France

F

Faiza Keddar

28Département de Hématologie, Centre Hospitalier Valenciennes, Valenciennes, France

L

Laurent Frenzel

C

Claire Calmettes

30Department of Hematology, Centre Hospitalier Périgueux, Périgueux, France

C

Carine Chaleteix

Service Hématologie, Hôpital Universitaire de Clermont-Ferrand, Clermont-Ferrand, France

I

Isabelle Plantier

32Department of Hematology, Centre Hospitalier Roubaix, Roubaix, France

E

Emilie Chalayer

33Department of Hematology, Centre Hospitalo-Universitaire de Saint-Etienne, Saint-Etienne, France

A

Anna Schmitt

C

Christophe Roul

35Department of Hematology, Centre Hospitalier La Rochelle, La Rochelle, France

H

Hélène Demarquette

36Department of Hematology, Centre Hospitalier Dunkerque, Dunkerque, France

C

Chloe Cerutti

Institut Universitaire du Cancer de Toulouse-Oncopole, 31100, France

L

Luka Pavageau

1Unit for Genomics in Myeloma, University Hospital, University of Toulouse, Institut Universitaire du Cancer Toulouse Oncopole, Centre de Recherches en Cancérologie de Toulouse, Toulouse, France

L

Laure Derrier

1Unit for Genomics in Myeloma, University Hospital, University of Toulouse, Institut Universitaire du Cancer Toulouse Oncopole, Centre de Recherches en Cancérologie de Toulouse, Toulouse, France

H

Hervé Avet-Loiseau

Unité Génomique du Myélome, Hôpital Universitaire de Toulouse Oncopole, Université de Toulouse, Toulouse, France

J

Jill Corre

Unité Génomique du Myélome, Hôpital Universitaire de Toulouse Oncopole, Université de Toulouse, Toulouse, France