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1.
Blood Cancer J ; 14(1): 74, 2024 Apr 29.
Artículo en Inglés | MEDLINE | ID: mdl-38684670

RESUMEN

Smoldering multiple myeloma (SMM) precedes multiple myeloma (MM). The risk of progression of SMM patients is not uniform, thus different progression-risk models have been developed, although they are mainly based on clinical parameters. Recently, genomic predictors of progression have been defined for untreated SMM. However, the usefulness of such markers in the context of clinical trials evaluating upfront treatment in high-risk SMM (HR SMM) has not been explored yet, precluding the identification of baseline genomic alterations leading to drug resistance. For this reason, we carried out next-generation sequencing and fluorescent in-situ hybridization studies on 57 HR and ultra-high risk (UHR) SMM patients treated in the phase II GEM-CESAR clinical trial (NCT02415413). DIS3, FAM46C, and FGFR3 mutations, as well as t(4;14) and 1q alterations, were enriched in HR SMM. TRAF3 mutations were specifically associated with UHR SMM but identified cases with improved outcomes. Importantly, novel potential predictors of treatment resistance were identified: NRAS mutations and the co-occurrence of t(4;14) plus FGFR3 mutations were associated with an increased risk of biological progression. In conclusion, we have carried out for the first time a molecular characterization of HR SMM patients treated with an intensive regimen, identifying genomic predictors of poor outcomes in this setting.


Asunto(s)
Biomarcadores de Tumor , Progresión de la Enfermedad , Resistencia a Antineoplásicos , Mutación , Mieloma Múltiple Quiescente , Humanos , Masculino , Resistencia a Antineoplásicos/genética , Femenino , Mieloma Múltiple Quiescente/genética , Biomarcadores de Tumor/genética , Persona de Mediana Edad , Anciano , Secuenciación de Nucleótidos de Alto Rendimiento , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico
2.
Cancer Genet Cytogenet ; 149(1): 11-6, 2004 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-15104277

RESUMEN

In two patients with hematological neoplasias a tandem repetition of chromosome 21 in the bone marrow was revealed by cytogenetic analysis. The disease was different in the two patients: one was of the lymphoid type, acute lymphoblastic leukemia type L1, and the other was of the myeloid type, acute nonlymphoblastic leukemia type M2. In one case this chromosomal abnormality resulted in amplification of the AML1 gene (HUGO nomenclature: RUNX1), whereas in the other case the AML1 gene was not included in the tandem repetition, showing that apparently similar cytogenetic aberrations may be different at the molecular level.


Asunto(s)
Cromosomas Humanos Par 21/genética , Proteínas de Unión al ADN/genética , Amplificación de Genes/genética , Leucemia Mieloide Aguda/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Proteínas Proto-Oncogénicas/genética , Secuencias Repetidas en Tándem/genética , Factores de Transcripción/genética , Anciano , Médula Ósea/patología , Preescolar , Subunidad alfa 2 del Factor de Unión al Sitio Principal , Femenino , Humanos , Hibridación Fluorescente in Situ , Leucemia Mieloide Aguda/patología , Leucemia-Linfoma Linfoblástico de Células Precursoras/patología
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