Introduction

Genetic profiling for haematological malignancies involves chasing a moving target. Not so long ago, leukaemias were stratified based on karyotype abnormalities. In recent years, however, knowledge of molecular genetics in haematology has increased significantly, thus offering new clinical opportunities. It has now been shown that gene expression, mutations and other genetic and epigenetic abnormalities also have diagnostic, prognostic and therapeutic implications.

Our Research

Since 2004, our group has been studying Myeloid Neoplasms, with a particular focus on characterizing genetic and epigenetic lesions to find new diagnostic, prognostic and therapeutic markers that could help us better diagnose and treat patients with these diseases. First, we started with karyotype and single nucleotide polymorphism arrays (SNP-A) to help us detect alterations at chromosome level, and we are currently performing studies at gene level (mutational profile studies) and analysing the impact that telomere size could have on the development of the disease.

Our Goals

The aim of our group is to apply our research to myeloid neoplasms (MN), specifically three distinct haematological diseases: chronic myelomonocytic leukaemia, myelodysplastic syndromes and myeloproliferative neoplasms (PV, ET, MFP and CML), with a view to finding better tools for diagnosis and prognosis stratification and achieving individualized targeted therapies (personalized medicine). Therefore, our research focuses mainly on the following areas:

1. Chronic myelomonocytic leukaemia (CMML). The aim of our research is to characterize the type, frequency and prognostic impact of mutations and cytogenetic alterations detected by SNP arrays in patients with low-risk CMML and, then, study its epigenetic changes (DNA methylation and miRNAs expression).
2. The classification and prognosis of the group of diseases termed myelodysplastic syndromes (MDS). This knowledge will also contribute to a better understanding of MDS biology and a better stratification of the prognosis of these patients, which would also help with the selection of the most appropriate treatment for each one.
3. Chronic myeloid leukaemia (CML). The aim of our research is to determine whether or not we can find any genetic marker at CML diagnosis that could explain a patient’s toxicity to tyrosine kinase inhibitors, or identify which patients will achieve a molecular response. We are also seeking a technique with higher sensitivity than QRT-PCR.
4. BCR-ABL1 negative classic myeloproliferative neoplasms (MPNs). We study several genomic changes in an attempt to associate them with cytological subtypes, laboratory parameters, clinical complications and probability of transformation to either MF or AML.

Our Challenges

Our research is highly socially relevant because we promote capacity building, advancing knowledge, help in making informed decisions and improve the health in general terms, with economic benefits for the whole society. Through our research, we aim to answer the following questions: 1. How can we improve diagnosis, prognosis stratification, treatment response and life expectancy in chronic myelomonocytic leukaemia? 2. How can we improve diagnosis, prognosis stratification, treatment response and life expectancy in myelodysplastic syndromes? 3. How can we improve diagnosis, prognosis stratification, treatment response and life expectancy in myeloproliferative neoplasms?