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Review
. 2025 Mar;104(3):1443-1458.
doi: 10.1007/s00277-025-06212-5. Epub 2025 Feb 13.

Overview of 1q abnormalities in multiple myeloma: scientific opinions from Italian experts

Mattia D'Agostino #  1 , Marina Martello #  2   3 , Lorenzo De Paoli  4 , Silvia Mangiacavalli  5 , Daniele Derudas  6 , Francesca Fazio  7 , Anna Furlan  8 , Carmine Liberatore  9 , Giuseppe Mele  10 , Roberto Mina  1 , Roberto Ria  11   12 , Elena Zamagni  13   14
Affiliations
Review

Overview of 1q abnormalities in multiple myeloma: scientific opinions from Italian experts

Mattia D'Agostino et al. Ann Hematol. 2025 Mar.

Abstract

Multiple myeloma (MM) is a haematological malignancy characterised by high genomic heterogeneity. One of the most common cytogenic abnormalities in MM is the gain of genetic material at the long arm (q) of chromosome 1 (+ 1q). While many mechanisms of resistance have been associated with + 1q alterations (e.g. CD38 downregulation, impairment of complement-dependent cytotoxicity, or induction of immunosuppression), the precise genetic or pathogenetic factors responsible for these alterations are still being investigated. Although interphase fluorescence in situ hybridisation (iFISH) is the gold standard for the detection of + 1q abnormalities used by the majority of diagnostic laboratories worldwide, there are no universally recognised cut-offs for + 1q positivity or a threshold for clinical meaningfulness. Because iFISH alone is insufficient to elucidate the extent of + 1q and other cytogenetic abnormalities in MM, sequencing-based methods could be adopted. The second revision of the international staging system for MM recently recognised + 1q as a high-risk feature. There is increasing evidence that + 1q has a prognostic value and influences the duration of remission, suggesting that patients with MM and + 1q may benefit from tailored therapy. This review comprehensively summarises the most recent biological evidence and clinical data on + 1q abnormalities in MM. However, given the heterogeneous data available, it remains difficult to draw firm conclusions. In clinical practice, +1q alterations should be evaluated along with other cytogenetic abnormalities and other biological and clinical characteristics of the disease. Ongoing and future studies will help the full understanding of the role of + 1q in MM.

Keywords: +1q; 1q abnormalities; Chromosome 1; Italy; Multiple myeloma.

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Conflict of interest statement

Declarations. Competing interests: Mattia D’Agostino has received honoraria for lectures from GSK, Sanofi and Janssen; and has served on the advisory boards of GSK, Sanofi and Bristol Myers Squibb/Celgene. Marina Martello has received honoraria from Takeda, Bristol Myers Squibb/Celgene, Sanofi, Janssen and GSK. Lorenzo De Paoli has received honoraria from Janssen, Sanofi, GSK, Menarini, Amgen, AstraZeneca, BeiGene and AbbVie; and has served on the advisory boards of GSK, Menarini, Amgen and Janssen. Silvia Mangiacavalli has received honoraria from Janssen, Sanofi, GSK, Menarini and Pfizer; has served on the advisory boards of Janssen, Sanofi, Bristol Myers Squibb/Celgene, GSK, Menarini and Takeda; and has received consultancy fees from Janssen. Daniele Derudas has received speaker fees from GSK, Johnson & Johnson, Bristol Myers Squibb/Celgene, Takeda and Amgen. Francesca Fazio has received honoraria from Janssen and GSK; has served on the advisory boards of GSK; and has received consultancy fees from Janssen, Menarini and Amgen. Anna Furlan has served on the advisory boards of Janssen, Takeda, Menarini, Amgen, Sanofi and GSK; and has received honoraria from Janssen, Takeda, Sanofi, GSK and Bristol Myers Squibb/Celgene. Carmine Liberatore has received honoraria from Janssen, Sanofi, GSK and Menarini; has served on advisory boards for Janssen, Sanofi, Bristol Myers Squibb/Celgene, GSK, Amgen, Menarini and Takeda; and received consultancy fees from GSK. Giuseppe Mele has received honoraria from Janssen, Sanofi, Amgen, Menarini, Celgene and Takeda; and has served on advisory boards for Janssen, Amgen, Menarini and Bristol Myers Squibb/Celgene. Roberto Mina has received honoraria from Janssen, Celgene, Takeda and Amgen; served on the advisory boards of Janssen, Takeda, Bristol Myers Squibb/Celgene, Amgen and Pfizer; and has received consultancy fees from Janssen, Takeda and Sanofi. Roberto Ria has served on the speaker’s bureau of Amgen, Bristol Myers Squibb/Celgene, CSL Behring, Janssen Cilag, Octapharma and Takeda; and was a consultant for Amgen, Bristol Myers Squibb/Celgene, CSL Behring, GSK, Janssen Cilag, Pfizer, Sanofi and Takeda. Elena Zamagni has received honoraria from and has served in an advisory role for Janssen, Bristol-Myers Squibb/Celgene, Sanofi, Amgen, GSK, Pfizer, Oncopeptides and Menarini-Stemline.

Figures

Fig. 1
Fig. 1
Pathogenic mechanisms activated through + 1q and involved in anti-CD38 resistance. +1q, gain of genetic material at the long arm of chromosome 1; ADAR, adenosine deaminase RNA specific; CD, cluster of differentiation; CDC, complement-dependent cytotoxicity; IL6R, interleukin-6 receptor; JAK, Janus kinase; mAb, monoclonal antibody; MoA, mechanism of action; MM, multiple myeloma; NK, natural killer; STAT, signal transducer and activator of transcription
See this image and copyright information in PMC

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