2026-04-19T09:43:16Zhttps://recercat.cat/oai/requestoai:recercat.cat:11351/125032025-10-24T10:34:49Zcom_2072_378070com_2072_378040col_2072_378092
RECERCAT
author
González-Calle, Verónica
author
Calasanz, Maria J.
author
Guijarro, Manuela
author
Martinez-Lopez, Joaquin
author
Rodriguez-Otero, Paula
author
Rosiñol, Laura
2025-10-24T10:34:49Z
2025-10-24T10:34:49Z
2025-01-29T07:42:09Z2025-01-29T07:42:09Z2024-12-10
http://hdl.handle.net/11351/12503
Cytogenetic abnormalities; Multiple myelomaAnomalías citogenéticas; Mieloma múltipleAnomalies citogenètiques; Mieloma múltipleThis 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.
Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/ info:eu-repo/semantics/openAccess
Mieloma múltiple - Prognosi
Anomalies cromosòmiques
Mieloma múltiple - Aspectes genètics
DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Chromosome Aberrations
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis
DISEASES::Cardiovascular Diseases::Vascular Diseases::Hemostatic Disorders::Multiple Myeloma
Other subheadings::Other subheadings::Other subheadings::/genetics
ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::aberraciones cromosómicas
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico
ENFERMEDADES::enfermedades cardiovasculares::enfermedades vasculares::trastornos hemostáticos::mieloma múltiple
Otros calificadores::Otros calificadores::Otros calificadores::/genética
High-risk cytogenetic abnormalities in multiple myeloma: PETHEMA-GEM experience
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion