Publications by authors named "Ilaria Carola Casetti"
Article Synopsis
- Hereditary thrombocytosis (HT) is a rare genetic disorder that has symptoms similar to essential thrombocythemia, a more common blood condition.
- A study of 933 patients with persistent high platelet counts found various mutations related to HT, including several in the MPL gene, which could be significant causes of the disorder.
- The research suggests screening triple-negative patients for specific MPL mutations and highlights the importance of accurate diagnosis to prevent unnecessary treatments.
Article Synopsis
- The COVID-19 pandemic significantly impacted individuals with hematologic diseases, putting them at higher risk due to compromised immune systems and delays in treatment.
- These patients experienced increased mortality rates from severe COVID-19, with the virus potentially worsening immune-related blood conditions.
- Vaccination is the most effective prevention method for severe COVID-19, but some patients may have impaired immune responses; nonetheless, the benefits of vaccination outweigh the risks, making it essential for all hematologic patients to receive preventive therapies.
Article Synopsis
- A study involving 3131 patients with myeloproliferative neoplasms (MPNs) found that 6.4% had a family history of a second hematological malignancy (HM).
- The prevalence of second HM cases was consistent across different MPN subtypes, genders, and driver mutations.
- Younger patients diagnosed with MPN (under 45 years) were more likely (8.5%) to have a relative with HM compared to older patients (5.5%), indicating a possible genetic link for early-onset cases.
Unlabelled: Approximately 20% of patients with myeloproliferative neoplasms (MPN) harbor mutations in the gene calreticulin (CALR), with 80% of those mutations classified as either type I or type II. While type II CALR-mutant proteins retain many of the Ca2+ binding sites present in the wild-type protein, type I CALR-mutant proteins lose these residues. The functional consequences of this differential loss of Ca2+ binding sites remain unexplored.
View Article and Find Full Text PDFAmong classical --negative myeloproliferative neoplasms (MPN), primary myelofibrosis (PMF) is the most aggressive subtype from a clinical standpoint, posing a great challenge to clinicians. Whilst the biological consequences of the three MPN driver gene mutations (JAK2, CALR, and MPL) have been well described, recent data has shed light on the complex and dynamic structure of PMF, that involves competing disease subclones, sequentially acquired genomic events, mostly in genes that are recurrently mutated in several myeloid neoplasms and in clonal hematopoiesis, and biological interactions between clonal hematopoietic stem cells and abnormal bone marrow niches. These observations may contribute to explain the wide heterogeneity in patients' clinical presentation and prognosis, and support the recent effort to include molecular information in prognostic scoring systems used for therapeutic decision-making, leading to promising clinical translation.
View Article and Find Full Text PDFRuxolitinib is effective in myeloproliferative neoplasms (MPN) but can cause reactivation of silent infections. We aimed at evaluating viral load and T-cell responses to human cytomegalovirus (HCMV) and Epstein-Barr virus (EBV) in a cohort of 25 MPN patients treated with ruxolitinib. EBV-DNA and HCMV-DNA were quantified monthly using real-time polimerase chain reaction (PCR) on peripheral blood samples, and T-cell subsets were analyzed by flowcytometry.
View Article and Find Full Text PDFPatients with Philadelphia-negative myeloproliferative neoplasm (MPN) are prone to the development of second cancers, but the factors associated with these events have been poorly explored. In an international nested case-control study, we recruited 647 patients with carcinoma, nonmelanoma skin cancer, hematological second cancer, and melanoma diagnosed concurrently or after MPN diagnosis. Up to 3 control patients without a history of cancer and matched with each case for center, sex, age at MPN diagnosis, date of diagnosis, and MPN disease duration were included (n = 1234).
View Article and Find Full Text PDFOne out of ten patients with Philadelphia-negative myeloproliferative neoplasms (MPN) develop a second cancer (SC): in such patients we aimed at assessing the survival impact of SC itself and of MPN-specific therapies. Data were therefore extracted from an international nested case-control study, recruiting 798 patients with SC diagnosed concurrently or after the MPN. Overall, 2995 person-years (PYs) were accumulated and mortality rate (MR) since SC diagnosis was 5.
View Article and Find Full Text PDFWe conducted a large international nested case-control study including 1881 patients with Philadelphia-negative myeloproliferative neoplasms (MPN). Cases (n = 647) were patients with second cancer (SC: carcinoma, non-melanoma skin cancer, hematological second cancer, and melanoma) and controls (n = 1234) were patients without SC, matched with cases for sex, age at MPN diagnosis, date of MPN diagnosis, and MPN disease duration. The aim was to evaluate the risk of SC after exposure to cytoreductive drugs.
View Article and Find Full Text PDFBackground: Approximately 50 to 60% of patients with essential thrombocythemia or primary myelofibrosis carry a mutation in the Janus kinase 2 gene (JAK2), and an additional 5 to 10% have activating mutations in the thrombopoietin receptor gene (MPL). So far, no specific molecular marker has been identified in the remaining 30 to 45% of patients.
Methods: We performed whole-exome sequencing to identify somatically acquired mutations in six patients who had primary myelofibrosis without mutations in JAK2 or MPL.