RESUMO
Chronic Lymphocytic Leukemia (CLL) is the most prevalent leukemia in Western countries and is notable for its variable clinical course. This variability is partly reflected by the mutational status of IGHV genes. Many CLL samples have been studied in recent years by next-generation sequencing. These studies have identified recurrent somatic mutations in NOTCH1, SF3B1, ATM, TP53, BIRC3 and others genes that play roles in cell cycle, DNA repair, RNA metabolism and splicing. In this study, we have taken a deep-targeted massive sequencing approach to analyze the impact of mutations in the most frequently mutated genes in patients with CLL enrolled in the REM (rituximab en mantenimiento) clinical trial. The mutational status of our patients with CLL, except for the TP53 gene, does not seem to affect the good results obtained with maintenance therapy with rituximab after front-line FCR treatment.
Assuntos
Ciclofosfamida/administração & dosagem , Regulação Leucêmica da Expressão Gênica , Imunoterapia/métodos , Leucemia Linfocítica Crônica de Células B/genética , Leucemia Linfocítica Crônica de Células B/terapia , Mutação , Rituximab/administração & dosagem , Vidarabina/análogos & derivados , Adulto , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Terapia Combinada , Análise Mutacional de DNA , Feminino , Genômica , Humanos , Masculino , Pessoa de Meia-Idade , Splicing de RNA , Vidarabina/administração & dosagemRESUMO
No disponible
Assuntos
Humanos , Doença de Hashimoto/complicações , Aplasia Pura de Série Vermelha/complicações , Glucocorticoides/uso terapêutico , Ciclosporina/uso terapêuticoAssuntos
Doença de Hashimoto/complicações , Aplasia Pura de Série Vermelha/etiologia , Adulto , Autoimunidade , Ciclosporina/uso terapêutico , Doença de Hashimoto/tratamento farmacológico , Doença de Hashimoto/imunologia , Humanos , Imunossupressores/uso terapêutico , Masculino , Prednisona/uso terapêutico , Aplasia Pura de Série Vermelha/imunologiaRESUMO
The employment of current treatments based on chemotherapy and immunotherapy leads to inmunosuppression. The presence of mutations or polymorphisms in genes related to immune system might involve an additional disadvantage. The aim of the present study was to analyze mannose-binding lectin (MBL-2 gene) mutations and their association with severe infections and event-free survival in patients diagnosed with follicular lymphoma, treated uniformly, in the clinical trial LNHF-03. The results of this trial showed impressive clinical efficacy but was complicated with 80 documented infectious episodes. Patients were classified into two genotypic groups, AA and AO/OO, based on their haplotypic inheritance. Neither the number of infectious episodes nor differences in event-free survival was found as a function of MBL-2 groups. Other factors, including the lymphoma malignancy and the immune alterations associated with the disease, should be considered responsible for this observation.
