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Pacients, metges i investigadors, en un entorn interdisciplinari i privilegiat

Els pacients, en el centre de la recerca

El primer centre europeu exclusivament enfocat en la recerca de la leucèmia i les altres malalties hematològiques

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Adema V, Palomo L, Toma A, Kosmider O, Fuster-Tormo F, Benito R, Salgado R, Such E, Larrayoz MJ, Xicoy B, Hernandez-Sanchez JM, Maietta P, Neef A, Fontenay M, Ibañez M, Diez-Campelo M, Alvarez S, Maciejewski JP, Fenaux P, Sole F

Distinct mutational pattern of myelodysplastic syndromes with and without 5q- treated with lenalidomide.

Br. J. Haematol. 9 Mar 2020, . Epub 9 Mar 2020Més informació
Fernández-Sanlés A, Sayols-Baixeras S, Castro DE Moura M, Esteller M, Subirana I, Torres-Cuevas S, Pérez-Fernández S, Aslibekyan S, Marrugat J, Elosua R

Physical Activity and Genome-wide DNA Methylation: The REgistre GIroní del COR Study.

Med Sci Sports Exerc Mar 2020, 52 (3) 589-597.
DNA methylation may be one of the biological mechanisms underlying the health benefits of physical activity (PA). Our objective was to determine the association between PA and genome-wide DNA methylation at CpG level.
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de Barrios O, Meler A, Parra M

MYC's Fine Line Between B Cell Development and Malignancy.

Cells 24 Feb 2020, 9 (2) . Epub 24 Feb 2020
The transcription factor MYC is transiently expressed during B lymphocyte development, and its correct modulation is essential in defined developmental transitions. Although temporary downregulation of MYC is essential at specific points, basal levels of expression are maintained, and its protein levels are not completely silenced until the B cell becomes fully differentiated into a plasma cell or a memory B cell. MYC has been described as a proto-oncogene that is closely involved in many cancers, including leukemia and lymphoma. Aberrant expression of MYC protein in these hematological malignancies results in an uncontrolled rate of proliferation and, thereby, a blockade of the differentiation process. MYC is not activated by mutations in the coding sequence, and, as reviewed here, its overexpression in leukemia and lymphoma is mainly caused by gene amplification, chromosomal translocations, and aberrant regulation of its transcription. This review provides a thorough overview of the role of MYC in the developmental steps of B cells, and of how it performs its essential function in an oncogenic context, highlighting the importance of appropriate MYC regulation circuitry.
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Parra M, Baptista MJ, Genescà E, Llinàs-Arias P, Esteller M

Genetics and Epigenetics of Leukemia and Lymphoma: From Knowledge to Applications, Meeting Report of the Josep Carreras Leukaemia Research Institute.

Hematol Oncol 19 Feb 2020, . Epub 19 Feb 2020
The meeting, which brought together leading scientists and clinicians in the field of leukemia and lymphoma, was held at the new headquarters of the Josep Carreras Leukaemia Research Institute (IJC) in Badalona, Catalonia, Spain, September 19-20, 2019. Its purpose was to highlight the latest advances in our understanding of the molecular mechanisms driving blood cancers, and to discuss how this knowledge can be translated into an improved management of the disease. Special emphasis was placed on the role of genetic and epigenetic heterogeneity, and the exploitation of epigenetic regulation for developing biomarkers and novel treatment approaches. This article is protected by copyright. All rights reserved.
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Crisà E, Kulasekararaj AG, Adema V, Such E, Schanz J, Haase D, Shirneshan K, Best S, Mian SA, Kizilors A, Cervera J, Lea N, Ferrero D, Germing U, Hildebrandt B, Martínez ABV, Santini V, Sanz GF, Solé F, Mufti GJ

Impact of somatic mutations in myelodysplastic patients with isolated partial or total loss of chromosome 7.

Leukemia 17 Feb 2020, . Epub 17 Feb 2020
Monosomy 7 [-7] and/or partial loss of chromosome 7 [del(7q)] are associated with poor and intermediate prognosis, respectively, in myelodysplastic syndromes (MDS), but somatic mutations may also play a key complementary role. We analyzed the impact on the outcomes of deep targeted mutational screening in 280 MDS patients with -7/del(7q) as isolated cytogenetic abnormality (86 with del(7q) and 194 with -7). Patients with del(7q) or -7 had similar demographic and disease-related characteristics. Somatic mutations were detected in 79% (93/117) of patients (82% in -7 and 73% in del(7q) group). Median number of mutations per patient was 2 (range 0-8). There was no difference in mutation frequency between the two groups. Patients harbouring ≥2 mutations had a worse outcome than patients with <2 or no mutations (leukaemic transformation at 24 months, 38% and 20%, respectively, p = 0.044). Untreated patients with del(7q) had better overall survival (OS) compared with -7 (median OS, 34 vs 17 months, p = 0.034). In multivariable analysis, blast count, TP53 mutations and number of mutations were independent predictors of OS, whereas the cytogenetic subgroups did not retain prognostic relevance. This study highlights the importance of mutational analysis in terms of prognosis in MDS patients with isolated -7 or del(7q).
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