1. Genomic mutation profile in progressive chronic lymphocytic leukemia patients prior to first-line chemoimmunotherapy with FCR and rituximab maintenance (REM)
- Author
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Marcos González, Eduardo Anguita, Ernesto Pérez-Persona, Belén Navarro-Matilla, Sara Nova-Gurumeta, Lucrecia Yáñez, Valle Recasens, Eva González-Barca, Rosa Collado, Javier López-Jiménez, Javier de la Serna, Sagrario Gómez, Raul Cordoba, Belen Fernandez-Cuevas, M.Angeles Andreu, Margarita Sánchez-Beato, María del Carmen Marquetti Fernández, M. Dolores García-Malo, Francisco Javier Peñalver, Nuria Pérez-Sanz, Guillermo Deben, Miguel Alcoceba, M. Ángeles Ruíz-Guinaldo, Raquel Paz-Arias, Miguel Fernández-Zarzoso, José A. García-Marco, Jose A. Garcia-Vela, Jaime Pérez de Oteyza, and Julia González-Rincón
- Subjects
Oncology ,Male ,Chronic lymphocytic leukemia ,DNA Mutational Analysis ,Gene Identification and Analysis ,medicine.disease_cause ,Hematologic Cancers and Related Disorders ,Database and Informatics Methods ,Maintenance therapy ,immune system diseases ,hemic and lymphatic diseases ,Antineoplastic Combined Chemotherapy Protocols ,Medicine and Health Sciences ,Chronic Lymphoblastic Leukemia ,Mutation ,Multidisciplinary ,Leukemia ,Gene Expression Regulation, Leukemic ,Nonsense Mutation ,Genomics ,Hematology ,Middle Aged ,Combined Modality Therapy ,Lymphoblastic Leukemia ,Medicine ,Rituximab ,Female ,Immunotherapy ,IGHV@ ,Vidarabine ,medicine.drug ,Research Article ,Adult ,medicine.medical_specialty ,RNA Splicing ,Science ,Single-nucleotide polymorphism ,Research and Analysis Methods ,Cytogenetics ,Chemoimmunotherapy ,Internal medicine ,medicine ,Genetics ,Humans ,Leucèmia limfocítica crònica ,Cyclophosphamide ,Mutation Detection ,Aged ,business.industry ,Biology and Life Sciences ,Cancers and Neoplasms ,Human Genetics ,medicine.disease ,Leukemia, Lymphocytic, Chronic, B-Cell ,Expressió gènica ,Biological Databases ,Mutation Databases ,Gene expression ,business - Abstract
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.
- Published
- 2021