4 results on '"Larrayoz M"'
Search Results
2. Targeted resequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression
- Author
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Pellagatti, A, Roy, S, Di Genua, C, Burns, A, McGraw, K, Valletta, S, Larrayoz, M J, Fernandez-Mercado, M, Mason, J, Killick, S, Mecucci, C, Calasanz, M J, List, A, Schuh, A, and Boultwood, J
- Subjects
LANDSCAPE ,MUTATIONS ,High-Throughput Nucleotide Sequencing ,Membrane Proteins ,Nuclear Proteins ,CLONAL HEMATOPOIESIS ,Genes, p53 ,GTP Phosphohydrolases ,Repressor Proteins ,Ribonucleoproteins ,Myelodysplastic Syndromes ,Core Binding Factor Alpha 2 Subunit ,Mutation ,Disease Progression ,Humans ,Letter to the Editor - Published
- 2015
3. Genomic disruption of the histone methyltransferase SETD2 in chronic lymphocytic leukaemia
- Author
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Parker, H, Rose Zerilli, M. J. J, Larrayoz, M, Clifford, R, Edelmann, J, Blakemore, S, Gibson, J, Wang, J, Ljungstr�m, V, Wojdacz, T. K, Chaplin, T, Roghanian, A, Davis, Z, Parker, A, Tausch, E, Ntoufa, S, Ramos, S, Robbe, P, Alsolami, R, Steele, A. J, Packham, G, Rodr�ez Vicente, A. E, Brown, L, Mcnicholl, F, Forconi, Francesco, Pettitt, A, Hillmen, P, Dyer, M, Cragg, M. S, Chelala, C, Oakes, C. C, Rosenquist, R, Stamatopoulos, K, Stilgenbauer, S, Knight, S, Schuh, A, Oscier, D. G, Strefford, J. C., Leukaemia & Lymphoma Research (UK), Royal Marsden NHS Foundation Trust, The Institute of Cancer Research (UK), Swedish Research Council, Swedish Cancer Society, Polysackaridforskning i Uppsala AB, German Research Foundation, Leukaemia Foundation, Wessex Medical Research, Kay Kendall Leukaemia Fund, and Cancer Research UK
- Subjects
Male ,Ataxia Telangiectasia Mutated Proteins ,Disease-Free Survival ,Humans ,Genes, Tumor Suppressor ,Hematologi ,Chronic ,Cancer och onkologi ,Leukemia ,B-Cell ,Genomics ,Histone-Lysine N-Methyltransferase ,Hematology ,Prognosis ,Leukemia, Lymphocytic, Chronic, B-Cell ,Lymphocytic ,Survival Rate ,Mutation ,Tumor Suppressor Protein p53 ,Genes ,Cancer and Oncology ,Histone Methyltransferases ,Female ,Original Article ,Tumor Suppressor - Abstract
Histone methyltransferases (HMTs) are important epigenetic regulators of gene transcription and are disrupted at the genomic level in a spectrum of human tumours including haematological malignancies. Using high-resolution single nucleotide polymorphism (SNP) arrays, we identified recurrent deletions of the SETD2 locus in 3% (8/261) of chronic lymphocytic leukaemia (CLL) patients. Further validation in two independent cohorts showed that SETD2 deletions were associated with loss of TP53, genomic complexity and chromothripsis. With next-generation sequencing we detected mutations of SETD2 in an additional 3.8% of patients (23/602). In most cases, SETD2 deletions or mutations were often observed as a clonal event and always as a mono-allelic lesion, leading to reduced mRNA expression in SETD2-disrupted cases. Patients with SETD2 abnormalities and wild-type TP53 and ATM from five clinical trials employing chemotherapy or chemo-immunotherapy had reduced progression-free and overall survival compared with cases wild type for all three genes. Consistent with its postulated role as a tumour suppressor, our data highlight SETD2 aberration as a recurrent, early loss-of-function event in CLL pathobiology linked to aggressive disease., This work was funded by Bloodwise (11052, 12036), the Kay Kendall Leukaemia Fund (873), Cancer Research UK (C34999/A18087, ECMC C24563/A15581), Wessex Medical Research and the Bournemouth Leukaemia Fund. SS is supported by the Else Kröner-FreseniusStiftung (2012_A146) and Deutsche Forschungsgemeinschaft (SFB 1074 projects B1, B2). The LRF CLL4 trial was funded by a core grant from Leukaemia and Lymphoma Research. DG and DC acknowledge the support by The Royal Marsden Hospital and The Institute of Cancer Research National Institute of Health Research Biomedical Research Center. RR is supported by the Swedish Cancer Society, the Swedish Research Council, Science for Life Laboratory, Uppsala University, Uppsala University Hospital, and the Lion’s Cancer Research Foundation, Uppsala.
- Published
- 2016
4. Recurrent mutations refine prognosis in chronic lymphocytic leukemia
- Author
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Kostas Stamatopoulos, Achilles Anagnostopoulos, Karin E. Smedby, Diego Cortese, Neus Villamor, Alba Navarro, C. Belessi, La. Sutton, E. Minga, Larry Mansouri, Gianluca Gaidano, Eugen Tausch, Paolo Ghia, Richard Rosenquist, Veronika Navrkalová, Šárka Pospíšilová, Jana Kminkova, Julio Delgado, Anastasia Hadzidimitriou, Lydia Scarfò, Gunnar Juliusson, Andreas Agathangelidis, Davide Rossi, Jonathan C. Strefford, Zadie Davis, Antonios M. Makris, Matthew J. J. Rose-Zerilli, David Oscier, Stephan Stilgenbauer, Panagiotis Baliakas, Elias Campo, Barbara Kantorová, Marta Larrayoz, Evangelia Stalika, Baliakas, P., Hadzidimitriou, A., Sutton, L. -A., Rossi, D., Minga, E., Villamor, N., Larrayoz, M., Kminkova, J., Agathangelidis, A., Davis, Z., Tausch, E., Stalika, E., Kantorova, B., Mansouri, L., Scarfo', L., Cortese, D., Navrkalova, V., Rose-Zerilli, M. J. J., Smedby, K. E., Juliusson, G., Anagnostopoulos, A., Makris, A. M., Navarro, A., Delgado, J., Oscier, D., Belessi, C., Stilgenbauer, S., Ghia, P., Pospisilova, S., Gaidano, G., Campo, E., Strefford, J. C., Stamatopoulos, K., and Rosenquist, R.
- Subjects
Oncology ,Male ,Cancer Research ,Time Factors ,Chronic lymphocytic leukemia ,DNA Mutational Analysis ,medicine.disease_cause ,0302 clinical medicine ,Recurrence ,hemic and lymphatic diseases ,Receptor, Notch1 ,0303 health sciences ,Mutation ,Hematology ,Middle Aged ,Prognosis ,3. Good health ,Europe ,Leukemia ,030220 oncology & carcinogenesis ,Female ,RNA Splicing Factors ,IGHV@ ,medicine.medical_specialty ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,Cytogenetics ,Internal medicine ,medicine ,Humans ,Clinical significance ,neoplasms ,030304 developmental biology ,Aged ,business.industry ,Ribonucleoprotein, U2 Small Nuclear ,medicine.disease ,Phosphoproteins ,Leukemia, Lymphocytic, Chronic, B-Cell ,Lymphoma ,Immunology ,Multivariate Analysis ,Tumor Suppressor Protein p53 ,business ,Trisomy ,Gene Deletion - Abstract
Through the European Research Initiative on chronic lymphocytic leukemia (CLL) (ERIC), we screened 3490 patients with CLL for mutations within the NOTCH1 (n=3334), SF3B1 (n=2322), TP53 (n=2309), MYD88 (n=1080) and BIRC3 (n=919) genes, mainly at diagnosis (75%) and before treatment (>90%). BIRC3 mutations (2.5%) were associated with unmutated IGHV genes (U-CLL), del(11q) and trisomy 12, whereas MYD88 mutations (2.2%) were exclusively found among M-CLL. NOTCH1, SF3B1 and TP53 exhibited variable frequencies and were mostly enriched within clinically aggressive cases. Interestingly, as the timespan between diagnosis and mutational screening increased, so too did the incidence of SF3B1 mutations; no such increase was observed for NOTCH1 mutations. Regarding the clinical impact, NOTCH1 mutations, SF3B1 mutations and TP53 aberrations (deletion/mutation, TP53ab) correlated with shorter time-to-first-treatment (P
- Published
- 2014
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