Publications by authors named "Rafael Daltro de Oliveira"
JAK (Janus Kinase) inhibitors, such as ruxolitinib, were introduced a decade ago for treatment of myeloproliferative neoplasms (MPN). To evaluate ruxolitinib's impact on MPN clonal evolution, we interrogate a myelofibrosis patient cohort with longitudinal molecular evaluation and discover that ruxolitinib is associated with clonal outgrowth of RAS pathway mutations. Single-cell DNA sequencing combined with ex vivo treatment of RAS mutated CD34 primary patient cells, demonstrates that ruxolitinib induces RAS clonal selection both in a JAK/STAT wild-type and hyper-activated context.
View Article and Find Full Text PDFThe aim of our study was to analyze the potential survival benefit associated with hematopoietic stem cell transplantation (HSCT) according to clinicobiological scores, which incorporate mutation-enhanced international prognostic score system (MIPSS) to facilitate decision-making in this context. One transplant (n = 241) and 1 nontransplant cohort (n = 239) were used to test the hypothesis that patients with primary myelofibrosis with higher risk molecular score benefit from HSCT. A weighted propensity score was applied to balance confounding factors with the transplanted cohort as reference.
View Article and Find Full Text PDFSynergistic effect of concurrent high molecular risk mutations and lower JAK2 mutant variant allele frequencies on prognosis in patients with myelofibrosis-insights from a multicenter study.
Leukemia
January 2025
Article Synopsis
- High-molecular risk (HMR) mutations, such as ASXL1 and IDH, are linked to poorer outcomes in myelofibrosis (MF) patients, particularly when combined with lower levels of the JAK2V617F variant allele frequency (VAF).
- Analysis of 124 MF patients showed that HMR mutations significantly impacted prognosis for those with lower JAK2V617F VAF, while this effect was not observed in patients with higher VAF levels.
- The study's findings indicate that having both HMR mutations and a lower JAK2V617F VAF (≤50%) serves as a strong independent risk factor for survival, improving existing prognostic models and prompting the need for further
We investigated using a custom NGS panel of 149 genes the mutational landscape of 64 consecutive adult patients with tyrosine kinase fusion-negative hypereosinophilia (HE)/hypereosinophilic syndrome (HES) harboring features suggestive of myeloid neoplasm. At least one mutation was reported in 50/64 (78%) patients (compared to 8/44 (18%) patients with idiopathic HE/HES/HE used as controls; p < .001).
View Article and Find Full Text PDFArticle Synopsis
- A low allele burden (<20%) of the CALR driver mutation is present in 10.8% of patients with CALR-mutated myeloproliferative neoplasms (MPNs), primarily seen in essential thrombocythemia.
- Patients with this low allele burden tend to have a milder disease phenotype.
- Those with less than 20% allele burden also experience a slower progression of their condition compared to patients with a higher allele burden (≥20%).
Article Synopsis
- The study compares the clinical characteristics of primary myelofibrosis (PMF) and secondary myelofibrosis (SMF), highlighting key differences in patient presentation and symptoms.
- It explores the molecular landscape of both conditions, analyzing genetic mutations and other molecular factors that may influence the disease.
- The research also focuses on prognosis scoring systems, assessing how well they predict outcomes and survival rates for patients with PMF and SMF.
Article Synopsis
- Current risk scores for thrombotic events in myeloproliferative neoplasms (MPN) fail to differentiate between arterial and venous thrombosis, even though they have different causes and implications.
- A new score called ARTS, which considers factors like prior arterial thrombosis, age over 60, cardiovascular issues, and specific gene mutations, effectively stratifies patients into low- and high-risk groups for arterial thrombosis.
- Conversely, the VEnous Thrombosis Score (VETS), which only looks at prior venous thrombosis and JAK2 mutations, does not perform well, highlighting the need for better venous risk assessments that address its complexity.
Article Synopsis
- The Clinical Investigations Center of Saint-Louis Hospital (CIC-1427) specializes in early phase clinical trials and adapted rapidly during the COVID-19 pandemic to ensure patient and staff safety.
- The study aimed to maintain optimal management of patients in trials while adhering to safety protocols set by health authorities.
- New procedures included virtual consultations, remote monitoring, and home delivery of treatments, successfully allowing continued patient follow-up despite the challenges posed by the pandemic.
Clinical and molecular profile of a Brazilian cohort of patients with classical BCR-ABL1-negative myeloproliferative neoplasms.
Hematol Transfus Cell Ther
October 2019
Article Synopsis
- The study focuses on classical BCR-ABL1-negative myeloproliferative neoplasms, specifically Polycythemia Vera (PV), Essential Thrombocythemia (ET), and Primary Myelofibrosis (PMF), in a developing country context.
- Data from 162 patients over 20 years showed a high prevalence of the JAK2V617F mutation, particularly in PV patients, while no mutations were found in the thrombopoietin receptor gene (MPL).
- Triple-negative PMF patients had lower overall survival rates compared to those with JAK2V617F or CALR mutations, highlighting the need for more epidemiological studies in similar populations.
Objective: To evaluate the association between Hashimoto's thyroiditis (HT) and papillary thyroid carcinoma (PTC).
Materials And Methods: The patients were evaluated by ultrasonography-guided fine needle aspiration cytology. Typical cytopathological aspects and/or classical histopathological findings were taken into consideration in the diagnosis of HT, and only histopathological results were considered in the diagnosis of PTC.