We analyzed variations in terms of chromosomal abnormalities (CA) by fluorescence in situ hybridization (FISH) analysis on purified bone marrow plasma cells throughout the progression from monoclonal gammopathy of undetermined significance/smoldering multiple myeloma (MGUS/SMM) to newly diagnosed MM/plasma cell leukemia (NDMM/PCL) at diagnosis and from diagnostic samples to progressive disease. High risk was defined by the presence of at least del(17p), t(4;14), and/or t(14;16). 1p/1q detection (in the standard FISH panel from 2012 onward) was not available for all patients. We analyzed 139 MM/PCL diagnostic samples from 144 patients, with a median follow-up of 71 months: high-risk CA at diagnosis (MGUS/SMM or NDMM) was present in 28% of samples, whereas 37–39% showed high-risk CA at relapse. In 115 patients with NDMM who evolved to relapsed/refractory MM, we identified 3 different populations: (1) 31/115 patients (27%) with gain of new CA (del13, del17p, t(4;14), t(14;16) or 1q CA when available); (2) 10/115 (9%) patients with loss of a previously identified CA; and (3) 74 patients with no changes. The CA gain group showed a median overall survival of 66 months vs. 84 months in the third group (HR 0.56, 95% CI 0.34–0.92, p = 0.023). Clonal evolution occurs as disease progresses after different chemotherapy lines. Patients who acquired high-risk CA had the poorest prognosis. Our findings highlight the importance of performing FISH analysis both at diagnosis and at relapse.

A longitudinal analysis of chromosomal abnormalities in disease progression from MGUS/SMM to newly diagnosed and relapsed multiple myeloma

Oliva S.
First
;
Ruggeri M.;Caltagirone S.;Troia R.;Oddolo D.;D'Agostino M.;Mina R.;Saraci E.;Genuardi E.;Bringhen S.;Boccadoro M.;
2021

Abstract

We analyzed variations in terms of chromosomal abnormalities (CA) by fluorescence in situ hybridization (FISH) analysis on purified bone marrow plasma cells throughout the progression from monoclonal gammopathy of undetermined significance/smoldering multiple myeloma (MGUS/SMM) to newly diagnosed MM/plasma cell leukemia (NDMM/PCL) at diagnosis and from diagnostic samples to progressive disease. High risk was defined by the presence of at least del(17p), t(4;14), and/or t(14;16). 1p/1q detection (in the standard FISH panel from 2012 onward) was not available for all patients. We analyzed 139 MM/PCL diagnostic samples from 144 patients, with a median follow-up of 71 months: high-risk CA at diagnosis (MGUS/SMM or NDMM) was present in 28% of samples, whereas 37–39% showed high-risk CA at relapse. In 115 patients with NDMM who evolved to relapsed/refractory MM, we identified 3 different populations: (1) 31/115 patients (27%) with gain of new CA (del13, del17p, t(4;14), t(14;16) or 1q CA when available); (2) 10/115 (9%) patients with loss of a previously identified CA; and (3) 74 patients with no changes. The CA gain group showed a median overall survival of 66 months vs. 84 months in the third group (HR 0.56, 95% CI 0.34–0.92, p = 0.023). Clonal evolution occurs as disease progresses after different chemotherapy lines. Patients who acquired high-risk CA had the poorest prognosis. Our findings highlight the importance of performing FISH analysis both at diagnosis and at relapse.
100
2
437
443
https://link.springer.com/article/10.1007/s00277-020-04384-w
https://doi.org/10.1007/s00277-020-04384-w
Clonal evolution; Cytogenetic abnormalities; Disease progression; FISH; Fluorescence in situ hybridization; Multiple myeloma; Aged; Chromosomes, Human; Disease-Free Survival; Female; Follow-Up Studies; Humans; Longitudinal Studies; Male; Middle Aged; Retrospective Studies; Risk Factors; Survival Rate; Chromosome Aberrations; Clonal Evolution; Leukemia, Plasma Cell; Monoclonal Gammopathy of Undetermined Significance; Smoldering Multiple Myeloma
Oliva S.; De Paoli L.; Ruggeri M.; Caltagirone S.; Troia R.; Oddolo D.; D'Agostino M.; Gilestro M.; Mina R.; Saraci E.; Margiotta Casaluci G.; Genuardi E.; Bringhen S.; Boccadoro M.; Omede P.
File in questo prodotto:
File Dimensione Formato  
[PUBLISHED Vsn.] Oliva et al - 2021_Article_ALongitudinalAnalysisOfChromos.pdf

Accesso riservato

Descrizione: [Restricted access - PUBLISHED Vsn.] Oliva S et al. Ann Hematol . 2021 Feb;100(2):437-443. doi: 10.1007/s00277-020-04384-w. Epub 2021 Jan 3. © The Author(s), under exclusive license to Springer-Verlag GmbH, DE part of Springer Nature 2021. Available at: https://link.springer.com/article/10.1007/s00277-020-04384-w | https://doi.org/10.1007/s00277-020-04384-w
Tipo di file: PDF EDITORIALE
Dimensione 420.76 kB
Formato Adobe PDF
420.76 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
[Author Vsn] Oliva et al - 2021 - Annals of Hematology - A longitudinal analysis b.pdf

Accesso riservato

Descrizione: [Author vsn. - Restricted access] Oliva S et al. Ann Hematol . 2021 Feb;100(2):437-443. doi: 10.1007/s00277-020-04384-w. Epub 2021 Jan 3. © The Author(s), under exclusive license to Springer-Verlag GmbH, DE part of Springer Nature 2021. The published version is available at: https://link.springer.com/article/10.1007/s00277-020-04384-w | https://doi.org/10.1007/s00277-020-04384-w
Tipo di file: POSTPRINT (VERSIONE FINALE DELL’AUTORE)
Dimensione 737.17 kB
Formato Adobe PDF
737.17 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
[Pre-print vsn] Oliva S et al - 2021 - Annals of Hematology - A longitudinal analysis.pdf

Accesso aperto

Descrizione: [Pre-print vsn.] Oliva S et al. Ann Hematol. 2021 Feb;100(2):437-443. doi: 10.1007/s00277-020-04384-w. Epub 2021 Jan 3. © The Author(s), under exclusive license to Springer-Verlag GmbH, DE part of Springer Nature 2021. This is not the final published version. The published version is available at: https://link.springer.com/article/10.1007/s00277-020-04384-w | https://doi.org/10.1007/s00277-020-04384-w
Tipo di file: PREPRINT (PRIMA BOZZA)
Dimensione 714.42 kB
Formato Adobe PDF
714.42 kB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/1769647
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 3
  • ???jsp.display-item.citation.isi??? 3
social impact