High‐risk cytogenetic abnormalities in multiple myeloma: PETHEMA‐GEM experience

This study examines the impact of cytogenetic abnormalities and their co-segregation on the prognosis of newly diagnosed multiple myeloma patients. The analysis included 1304 patients from four different GEM-PETHEMA clinical trials. Genetic alterations, such as t(4;14), t(14;16), del(17p), +1q, and del(1p), were investigated using FISH on CD38 purified plasma cells. The frequency of genetic alterations detected were as follows: del(17p) in 8%, t(4;14) in 12%, t(14;16) in 3%, +1q in 43%, and del(1p) in 8%. The median follow-up was 61 months, and the median progression-free survival (PFS) and overall survival (OS) were 44 months and not reached, respectively. Consistent with previous reports, the presence of t(4;14) was associated with shorter PFS and OS. In our series, the presence of t(14;16) did not impact survival, maybe due to limitations in sample size. Del(17p) was linked to poor prognosis using a cut-off level of ≥20% positive cells, without any impact of higher cut-off in prognosis, except for patients with clonal fraction ≥80% who had a dismal outcome. Cosegregation of cytogenetic abnormalities patients worsened the prognosis in t(4;14) patients but not in patients with del(17p), which retained its adverse prognosis even as a solitary abnormality. Gain(1q) was associated with significantly shorter PFS and OS, while del(1p) affected PFS but not OS. Nevertheless, when co-segregation was eliminated, the detrimental effect of +1q or del(1p) was no longer observed. In conclusion, this study confirms the prognostic significance of high-risk cytogenetic abnormalities in MM and highlights the importance of considering co-occurrence for accurate prognosis assessment.

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Publication Details

Journal
HemaSphere
Published
2024-12-01
DOI
https://doi.org/10.1002/hem3.70031
Citations
8
Primary Topic
Multiple Myeloma Research and Treatments
Type
article
Field-Weighted Citation Impact
3.64
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article

High‐risk cytogenetic abnormalities in multiple myeloma: PETHEMA‐GEM experience

Enrique M. Ocio, Laura Rosiñol, Felipe de Arriba, Juan José Lahuerta et al.
8 citations
HemaSphere
Multiple Myeloma Research and Treatments
3.64
article

High‐risk cytogenetic abnormalities in multiple myeloma: PETHEMA‐GEM experience

Enrique M. Ocio, Laura Rosiñol, Felipe de Arriba, Juan José Lahuerta, Jesús F. San Miguel, Mercedes Gironella, María‐Victoria Mateos, Javier de la Rubia, Joaquín Martínez‐López, Joan Bargay, Marta Sonia González, Verónica González‐Calle, Norma C. Gutiérrez, Albert Oriol, María V. Guijarro, Ana Pilar González, Miguel‐Teodoro Hernández, Anna Sureda, Luis Palomera, Paula Rodríguez‐Otero, Marı́a José Calasanz, Joan Bladé, Ana Isabel Teruel
article en
8 citations

Abstract

This study examines the impact of cytogenetic abnormalities and their co-segregation on the prognosis of newly diagnosed multiple myeloma patients. The analysis included 1304 patients from four different GEM-PETHEMA clinical trials. Genetic alterations, such as t(4;14), t(14;16), del(17p), +1q, and del(1p), were investigated using FISH on CD38 purified plasma cells. The frequency of genetic alterations detected were as follows: del(17p) in 8%, t(4;14) in 12%, t(14;16) in 3%, +1q in 43%, and del(1p) in 8%. The median follow-up was 61 months, and the median progression-free survival (PFS) and overall survival (OS) were 44 months and not reached, respectively. Consistent with previous reports, the presence of t(4;14) was associated with shorter PFS and OS. In our series, the presence of t(14;16) did not impact survival, maybe due to limitations in sample size. Del(17p) was linked to poor prognosis using a cut-off level of ≥20% positive cells, without any impact of higher cut-off in prognosis, except for patients with clonal fraction ≥80% who had a dismal outcome. Cosegregation of cytogenetic abnormalities patients worsened the prognosis in t(4;14) patients but not in patients with del(17p), which retained its adverse prognosis even as a solitary abnormality. Gain(1q) was associated with significantly shorter PFS and OS, while del(1p) affected PFS but not OS. Nevertheless, when co-segregation was eliminated, the detrimental effect of +1q or del(1p) was no longer observed. In conclusion, this study confirms the prognostic significance of high-risk cytogenetic abnormalities in MM and highlights the importance of considering co-occurrence for accurate prognosis assessment.

HemaSphereVol. 8(12)
Universidade de Santiago de Compostela (ES), Hospital Universitario de Canarias (ES), Hospital Universitari i Politècnic La Fe (ES), Hospital Son Llatzer (ES), Hospital Clínico Universitario de Valencia (ES), Marqués de Valdecilla University Hospital (ES), Hospital Universitario 12 De Octubre (ES), Institut Català d'Oncologia (ES), Navarre Institute of Health Research (ES), Hospital Clínic de Barcelona (ES), Vall d'Hebron Hospital Universitari (ES), Hospital Universitario Central de Asturias (ES), Instituto de Investigación Biomédica de Salamanca (ES), Clinica Universidad de Navarra (ES), Hospital Clínico Universitario Lozano Blesa (ES), Centro de Investigación del Cáncer (ES), Servicio Gallego de Salud (ES), Centro de Investigación Biomédica en Red de Cáncer (ES), Consorci Institut D'Investigacions Biomediques August Pi I Sunyer (ES), Universidad de Murcia (ES)
Openalex Percentile: Top 6%
Multiple Myeloma Research and Treatments
3.64
DOIOpen Access PDFOpenAlex
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