The main thrust of this group’s research is the phenotypic, cytogenetic and molecular characterisation of various haematological pathologies to identify diagnostic and prognostic markers in order to better understand the physiopathology of these entities, as well as the response to certain drugs. To do this, they use flow cytometry techniques, conventional cytogenetics, FISH, genomic and expression microarrays, RT-PCR, Sanger and next generation sequencing (NGS).
Their main lines of work include:
Myeloid research (Drs. Lourdes Florensa, Leonor Arenillas and Xavier Calvo)
Myelodysplastic syndromes (MDS):
- Development of new strategies for improved diagnosis and prognosis in cytological, cytogenetic and epigenetic assessment, in collaboration with the Lee Moffitt Cancer Centre (Florida), the Spanish MDS Group (Grupo Español de SMD - GESMD), and Hospital Clínic ( Barcelona).
- NGS design of new liquid biopsy methods, as well as diagnostic and prognostic panels in myeloid neoplasias.
- Arenillas et al., Genes Chromosomes & Cancer 2013.
- Senent et al., Haematologica 2013.
- Such et al., Blood 2013.
- Calvo et al., Leukemia Research 2014.
- Calvo et al., Leukemia Research 2015.
- Arenillas, Calvo et al., Journal of Clinical Oncology 2016.
- Calvo, Arenillas et al., Modern Pathology 2016.
- Nomdedeu, Calvo et al., Genes Chromosomes & Cancer 2016.
- Nomdedeu et al., American Jornal of Hematology 2017.
Myeloproliferative neoplasms/myelodysplastic syndromes (MPN/MDS)
- Description of the mutations, clinical features, and outcomes of patients suffering refractory anaemia with ring sideroblasts and thrombocytosis.
- Histological description of essential thrombocythemia with mutation of the calreticulin gene.
Lymphoid research (Drs. Blanca Espinet, Ana Ferrer, Xavier Calvo, Fernando Gallardo, Anna Puiggros, Marta Salido, Gonzalo Blanco and Andrea Gómez)
Chronic lymphocytic leukaemia (CLL) and CLL-type monoclonal B lymphocytosis (MBL):
- Description of cytogenetic subgroups within CLL, its clinical features, and prognostic value. This involves collaboration at both the national (Spanish CLL and the Spanish Cooperative Group for Haematological Cytogenetics) and international (European Research Initiative on CLL) levels.
- Study on tumor microenvironment (T lymphocytes and NK cells) in CLL and MBL, in collaboration with The Feinstein Institute for Medical Research (New York) and the Institute of Applied Biosciences (Thessaloniki).
- Delgado et al., British Journal of Haematology 2012.
- Puiggros et al., British Journal of Haematology 2013.
- Puiggros et al., Genes Chromosomes & Cancer 2014.
- González-Gascón et al., Hematological Oncology 2015.
- Hernández et al., Plos One 2015.
- Baliakas et al., Haematologica 2016.
- Blanco et al., Oncotarget 2016.
Splenic marginal zone lymphoma (SMZL)
- Characterisation of non-classifiable B-cell splenic lymphoma/leukaemia (small B-cell splenic lymphoma with diffuse infiltration of the red pulp and variant hairy cell leukaemia) in peripheral blood, in collaboration with the Spanish Group for Haematological Cytology (Grupo Español de Citología Hematológica - GECH).
- Conventional cytogenetic and FISH characterisation of altered regions (7q, 3q (BCL6) and 17p (TP53)) and cyclins D1, D2 and D3. SNP arrray studies, molecular characterisation of the mutational status of the IGHV gene and the set of gene families involved. Study of the incidence of gene mutations that could be involved in the pathogenesis of splenic marginal zone lymphoma (KLF2, NOTCH2, MYD88, BRAF, and SOX11).
- Morphologic, phenotypic, cytogenetic and molecular characterisation of clonal B lymphocytosis with a marginal phenotype. Analysis of sequential samples (possible evolution to classic splenic marginal zone lymphoma). Research into this group of genes with an important role in well-established mature B cell neoplasms (TLR2, NOTCH1, NOTCH2, and BIRC3).
- Massive sequencing and methylation studies in marginal splenic lymphoma and clonal B lymphocytosis with a marginal phenotype.
Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinemia(LPL/WM)
- Study of leukaemisation, phenotypic characterisation and reclassification of diagnosed cases of LPL/WM through new, molecular age developments (MYD88 mutation) and flow cytometry.
Cutaneous lymphomas
- Genetic and genomic characterisation of cutaneous T-cell lymphomas by applying genomic arrays and mass sequencing techniques.
- Identification of epigenetic biomarkers in cutaneous T cell lymphomas.
Solid Tumour Research (Drs. Marta Salido and Sergi Clavé)
Lung cancer
- Validation of Ion Torrent mass sequencing technology (NGS) for identifying and characterising rearrangements of ALK and ROS1 genes compared to the reference technique, FISH, in non-small-cell lung cancer (NSCLC). This technology also facilitates the detection of additional mutations/rearrangements that may be relevant to the biology of this subset of lung carcinomas.
- Mutational study of the MET gene in NSCLC. Comparison of the results with the data obtained through FISH techniques (gene amplification) and immunohistochemistry (overexpression).
- Molecular characterisation of NSCLC with mutations in KRAS using massive sequencing and CGH arrays.
- Characterisation of the role of genomic alterations in relation to PD-L1 expression in patients with non-small-cell lung cancer.
Other links of interest:
NACIONAL NETWORKS: Sociedad Española de Hematología y Hemoterapia,Asociación Española contra el Cáncer, Grupo Español de Citología Hematológica, Grupo Cooperativo Español de Citogenética Hematológica, Grupo de Biología Molecular en Hematología, Academia Española de Dermatología y Venereología, Grupo Español de LLC, Grupo Español de SMD.
INTERNACIONAL NETWORKS: American Society of Hematology, The Leukemia & Lymphoma Society, Myelodysplastic Syndromes Foundation, European Organization for Research and Treatment of Cancer, European Research Initiative on CLL, Eurogentest, European Society of Human Genetics, European Cytogeneticists Association, American Society of Human Genetics.
TOOLS OF INTEREST: GenHem App, Recurrent Chromosome Aberrations in Cancer, Mitelman Database of Chromosome Aberrations in Cancer, Resources for Molecular Cytogenetics.
