Publications by authors named "M Bertesi"
Article Synopsis
- JAK2V617F is the most common genetic mutation in Philadelphia-negative chronic Myeloproliferative Neoplasms (MPNs), and researchers believe abnormalities in Chromosome 9 may influence the disease in patients with this mutation.
- A specific group of MPN patients, called +9p patients, were found to have three copies of the JAK2 gene and nearby genes, leading to increased production of the immunosuppressive PD-L1 protein.
- The study showed that these +9p patients have a distinct cancer profile, characterized by greater stem cell-like properties and an immune response that results in exhausted T cells, highlighting a complex interaction between +9p and JAK2V617F mutations.
Myeloproliferative neoplasms represent a group of clonal hematopoietic disorders of which myelofibrosis (MF) is the most aggressive. In the context of myeloid neoplasms, there is a growing recognition of the dysregulation of immune response and T-cell function as significant contributors to disease progression and immune evasion. We investigated cytotoxic T-cell exhaustion in MF to restore immune response against malignant cells.
View Article and Find Full Text PDFTransformation from chronic (CP) to blast phase (BP) in myeloproliferative neoplasm (MPN) remains poorly characterized, and no specific mutation pattern has been highlighted. BP-MPN represents an unmet need, due to its refractoriness to treatment and dismal outcome. Taking advantage of the granularity provided by single-cell sequencing (SCS), we analyzed paired samples of CP and BP in 10 patients to map clonal trajectories and interrogate target copy number variants (CNVs).
View Article and Find Full Text PDFPemphigus is a life-threatening blistering autoimmune disease. Several forms, characterized by the presence of autoantibodies against different autoantigens, have been described. In Pemphigus Vulgaris (PV), autoantibodies target the cadherin Desmoglein 3 (DSG3), while in Pemphigus foliaceous (PF) autoantibodies target the cadherin Desmoglein 1 (DSG1).
View Article and Find Full Text PDFMyeloproliferative neoplasms (MPNs) are clonal disorders originated by the serial acquisition of somatic mutations in hematopoietic stem/progenitor cells. The major clinical entities are represented by polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), that are caused by driver mutations affecting , or . Disease progression is related to molecular and clonal evolution.
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