2026-04-17T21:39:21Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/125032025-10-24T10:34:49Zcom_2072_378070com_2072_378040col_2072_378092

High-risk cytogenetic abnormalities in multiple myeloma: PETHEMA-GEM experience González-Calle, Verónica Calasanz, Maria J. Guijarro, Manuela Martinez-Lopez, Joaquin Rodriguez-Otero, Paula Rosiñol, Laura 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 Cytogenetic abnormalities; Multiple myeloma Anomalías citogenéticas; Mieloma múltiple Anomalies citogenètiques; Mieloma múltiple 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. 2025-10-24T10:34:49Z 2025-10-24T10:34:49Z 2025-10-24T10:34:49Z 2025-01-29T07:42:09Z 2025-01-29T07:42:09Z 2024-12-10 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://hdl.handle.net/11351/12503 HemaSphere;8(12) https://doi.org/10.1002/hem3.70031 Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/ info:eu-repo/semantics/openAccess Wiley Scientia