Publications
Synthetic Histopathological Images Generation with Artificial Intelligence to Accelerate Research and Improve Clinical Outcomes in Hematology
Abstract Background Hematological malignancies are rare and complex diseases and as a consequence, multimodal data (ranging from clinical and genomic information to images) are required to improve diagnosis, prognosis and personalized treatments. However, collecting all these layers of information is challenging, in particular when collecting cytological and histological images from the bone marrow (BM) reproducing […]
Classification and Personalized Prognostic Assessment on the Basis of Clinical and Genomic Features in Myelodysplastic Syndromes
Abstract Purpose Recurrently mutated genes and chromosomal abnormalities have been identified in myelodysplastic syndromes (MDS). We aim to integrate these genomic features into disease classification and prognostication. Methods We retrospectively enrolled 2,043 patients. Using Bayesian networks and Dirichlet processes, we combined mutations in 47 genes with cytogenetic abnormalities to identify genetic associations and subgroups. Random-effects […]
Real-World Validation of Molecular International Prognostic Scoring System (IPSS-M) for Myelodysplastic Syndromes
Abstract Purpose Introduction Myelodysplastic syndromes (MDS) are heterogeneous hematopoietic neoplasms characterized by peripheral blood cytopenia and increased risk of evolution into acute myeloid leukemia. Recently, a new clinical-molecular prognostic model (International Prognostic Scoring System-Molecular, IPSS-M) was proposed to improve conventional risk stratification defined by the IPSS-R [Bernard E et al, NEJM Evid 2022]. In this […]
Multi-Modal Analysis and Federated Learning Approach for Classification and Personalized Prognostic Assessment in Myeloid Neoplasms
Abstract Background Myeloid neoplasms (MN) present clinical and molecular heterogeneity and therefore a risk-adapted treatment strategy is mandatory. In MN, classification and prognostic tools based on clinical and morphologic criteria are being complemented by introducing genomic features. The clinical implementation of next-generation classifications and prognostic systems requires the availability of a robust methodological framework together […]
Clinical Implications of p53 Dysfunction in Patients with Myelodysplastic Syndromes
Abstract Background Among patients with myelodysplastic syndrome (MDS), 8-10% have mutations in TP53 gene. TP53-mutated MDS represent a distinct disease entity associated with reduced survival, which is even poorer in those patients with a biallelic TP53 disruption. Recent data indicate that non-mutational p53 dysfunction may occur in different type of cancers as a result of […]
A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes: a multicentre, observational cohort study
Abstract Background Sex is a major source of diversity among patients and a sex-informed approach is becoming a new paradigm in precision medicine. We aimed to describe sex diversity in myelodysplastic syndromes in terms of disease genotype, phenotype, and clinical outcome. Moreover, we sought to incorporate sex information into the clinical decision-making process as a […]