A5013539196- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Chronic Myeloid Leukemia Treatments
- Eosinophilic Disorders and Syndromes
- Kruppel-like factors research
- Acute Myeloid Leukemia Research
- Hemoglobinopathies and Related Disorders
- Cytokine Signaling Pathways and Interactions
- Multiple Myeloma Research and Treatments
- Platelet Disorders and Treatments
- Mast cells and histamine
- Renal Diseases and Glomerulopathies
- MicroRNA in disease regulation
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Chronic Lymphocytic Leukemia Research
- Cancer-related molecular mechanisms research
- Venous Thromboembolism Diagnosis and Management
- Circular RNAs in diseases
- Protein Degradation and Inhibitors
- Histone Deacetylase Inhibitors Research
- Systemic Lupus Erythematosus Research
- Systemic Sclerosis and Related Diseases
- Cancer Genomics and Diagnostics
- Bone and Joint Diseases
- Autoimmune and Inflammatory Disorders Research
- Medical Imaging and Pathology Studies
University of Florence
2016-2025
Azienda Ospedaliero-Universitaria Careggi
2016-2025
Istituto Nazionale di Documentazione Innovazione e Ricerca Educativa
2019-2024
Tata Memorial Hospital
2023
Karadeniz Technical University
2023
Assiut University
2023
Università Campus Bio-Medico
2023
All India Institute of Medical Sciences
2023
Homi Bhabha National Institute
2023
Rabin Medical Center
2023
Somatic mutations in the Janus kinase 2 gene (JAK2) occur many myeloproliferative neoplasms, but molecular pathogenesis of neoplasms with nonmutated JAK2 is obscure, and diagnosis these remains a challenge.
Cancers result from the accumulation of somatic mutations, and their properties are thought to reflect sum these mutations. However, little is known about effect order in which mutations acquired.We determined mutation patients with myeloproliferative neoplasms by genotyping hematopoietic colonies or means next-generation sequencing. Stem cells progenitor were isolated study on mature immature cells.The age at a patient presented neoplasm, acquisition JAK2 V617F homozygosity, balance...
Myeloproliferative neoplasms, such as polycythemia vera, essential thrombocythemia, and myelofibrosis, are chronic hematologic cancers with varied progression rates. The genomic characterization of patients myeloproliferative neoplasms offers the potential for personalized diagnosis, risk stratification, treatment.
Purpose To develop a prognostic system for transplantation-age patients with primary myelofibrosis (PMF) that integrates clinical, cytogenetic, and mutation data. Patients Methods The study included 805 PMF age ≤ 70 years recruited from multiple Italian centers the Mayo Clinic (Rochester, MN), forming two independent learning validation cohorts. A Cox multivariable model was used to select among list of 22 variables those were predictive overall survival (OS). Integrated clinical genetic...
Background Prior thrombosis is a well-established risk factor for re-thrombosis in polycythemia vera and essential thrombocythemia but scarce data are available on the rate of optimal strategy prevention recurrence.Design Methods We retrospectively estimated recurrence multicenter cohort 494 patients (poly-cythemia vera/essential 235/259) with previous arterial (67.6%) or venous (31%) both (1.4%). First was cerebrovascular disease 191 cases, acute coronary syndrome 106, peripheral 44,...
In a multi-institutional collaborative project, 1473 patients with myeloproliferative neoplasms (MPN) were screened for isocitrate dehydrogenase 1 (IDH1)/IDH2 mutations: 594 essential thrombocythemia (ET), 421 polycythemia vera (PV), 312 primary myelofibrosis (PMF), 95 post-PV/ET MF and 51 blast-phase MPN. A total of 38 IDH mutations (18 IDH1-R132, 19 IDH2-R140 IDH2-R172) detected: 5 (0.8%) ET, 8 (1.9%) PV, 13 (4.2%) PMF, (1%) 11 (21.6%) MPN (P<0.01). Mutant was documented in the presence or...
Polycythemia vera (PV) is characterized by JAK2 and essential thrombocythemia (ET) JAK2, calreticulin (CALR), myeloproliferative leukemia virus oncogene (MPL) mutations; we describe the occurrence prognostic relevance of DNA sequence variants/mutations other than JAK2/CALR/MPL. A myeloid neoplasm-relevant 27-gene panel was used for next-generation sequencing bone marrow or whole blood conventional tools were analysis. "Adverse variants/mutations" identified age-adjusted multivariable...
Current prognostication in primary myelofibrosis (PMF) is based on the dynamic international prognostic scoring system (DIPSS)-plus, which employs clinical and cytogenetic variables. We recently reported DIPSS-plus independent significance for calreticulin (CALR) (favorable) ASXL1 (unfavorable) mutations. In current study, 570 PMF patients were recruited derivation (n=277) validation (n=293) of a molecular model these two Survival was longest CALR(+)ASXL1(-) (median 10.4 years) shortest...
International collaborations over the years have produced a series of prognostic models for primary myelofibrosis (PMF), including recently unveiled mutation-enhanced international scoring systems transplant-age patients (MIPSS70 and MIPSS70-plus). In current study, we considered feasibility genetically inspired system (GIPSS) that is exclusively based on genetic markers. Among 641 cytogenetically annotated with PMF informative previously recognized adverse mutations, multivariable analysis...
CALR (calreticulin) trails JAK2 as the second most mutated gene in essential thrombocythemia (ET). Mutant ET is a result of frameshift mutations, caused by exon 9 deletions or insertions; type-1, 52-bp deletion (p.L367fs*46), and type-2, 5-bp TTGTC insertion (p.K385fs*47) variants constitute more than 80% these mutations. The current study includes total 1027 patients divided into test (n = 402) validation 625) cohorts. Among 402 cohort, 227 (57%) harbored JAK2, 11 (3%) Myeloproliferative...
Survival prediction in essential thrombocythaemia (ET) and polycythaemia vera (PV) is currently based on clinically-derived variables; we examined the possibility of integrating genetic information for predicting survival. To this end, 906 molecularly-annotated patients (416 Mayo Clinic; 490 University Florence, Italy), including 502 ET 404 PV, were recruited. Multivariable analysis identified spliceosome mutations to adversely affect overall (SF3B1, SRSF2 PV) myelofibrosis-free (U2AF1,...