Publications by authors named "Ranta D"
Article Synopsis
- Advanced systemic mastocytosis (AdvSM) is a complex condition linked to poor outcomes, and while midostaurin is the first approved treatment, its long-lasting effectiveness is limited.
- Various prognostic scoring systems like MARS, IPSM, and GPSM have been developed to assess patients' outcomes, but it's essential to tailor these scores to specific AdvSM subtypes for better accuracy.
- A study of patients treated with midostaurin revealed that MARS and AdvSM subtype significantly predict overall survival, identifying five distinct patient subgroups with varying median survival times, highlighting the need for personalized management strategies.
The immunosuppressive treatment of immune-mediated thrombotic thrombocytopenic purpura (iTTP) in patients with intolerance or refractoriness to the B-cell depleting monoclonal antibody rituximab remains debated. Daratumumab, a plasma cell-directed monoclonal antibody targeting CD38, represents a therapeutic option, but data are scarce. The French Thrombotic Microangiopathies Reference Center conducted a nationwide survey on iTTP patients treated with daratumumab.
View Article and Find Full Text PDFTherapeutic strategies for patients with newly diagnosed multiple myeloma (NDMM) have considerably improved during the last 10 years. The IFM2014-03 trial proposed an all-oral triplet induction/consolidation regimen in transplant-eligible NDMM patients, followed by lenalidomide maintenance. Induction consisted of three 21-day cycles of ixazomib, lenalidomide and dexamethasone (IRd), before high-dose Melphalan with transplant followed by eight 28-day cycles of IRd consolidation before 13 cycles of lenalidomide maintenance.
View Article and Find Full Text PDFSystemic mastocytosis (SM) corresponds to a rare and heterogeneous spectrum of diseases characterized by the accumulation of atypical mast cells (MCs). Advanced mastocytosis (Adv-SM) is associated with poor survival; in contrast, patients with non-advanced SM (non-Adv-SM) usually have a normal life expectancy but may experience poor quality of life. Despite recent therapeutic progress including tyrosine kinase inhibitors, new treatment options are needed for refractory and/or intolerant patients with both severely symptomatic and Adv-SM.
View Article and Find Full Text PDFBackground And Aims: Systemic mastocytosis (SM) is characterized by the accumulation of atypical mast cells (MCs) in organs. Liver histology of SM has been marginally described and accurate histological classification is critical, given the consequences of aggressive SM diagnosis. We aimed to describe the histological features associated with liver SM using updated tools.
View Article and Find Full Text PDFWarts, hypogammaglobulinaemia, infections and myelokathexis syndrome (WHIMS) is a rare combined primary immunodeficiency caused by the gain of function of the CXCR4 chemokine receptor. We present the prevalence of cancer in WHIMS patients based on data from the French Severe Chronic Neutropenia Registry and an exhaustive literature review. The median follow-up of the 14 WHIMS 'patients was 28.
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%).
Background: Mastocytosis and monoclonal mast cell (MC) activation syndrome (MMAS) are heterogeneous conditions characterized by the accumulation of atypical MCs. Despite the recurrent involvement of KIT mutations, the pathophysiologic origin of mastocytosis and MMAS is unclear. Although hereditary α-tryptasemia (HαT, related to TPSAB1 gene duplication) is abnormally frequent in these diseases, it is not known whether the association is coincidental or causal.
View Article and Find Full Text PDFEffective Anti-SARS-CoV-2 Immune Response in Patients With Clonal Mast Cell Disorders.
J Allergy Clin Immunol Pract
May 2022
Background: Mast cells are key players in innate immunity and the T2 adaptive immune response. The latter counterbalances the T1 response, which is critical for antiviral immunity. Clonal mast cell activation disorders (cMCADs, such as mastocytosis and clonal mast cell activation syndrome) are characterized by abnormal mast cell accumulation and/or activation.
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- The study looked at how different gene mutations affect the health of people with myelofibrosis, a type of blood disease.
- Researchers analyzed 479 patients and grouped them based on specific mutations to see how these groups relate to worsening conditions or death.
- They found that mutations in certain genes like TP53 and high-risk genes made it more likely for patients to get worse or die, while a mutation in the ASXL1 gene alone didn’t have a significant negative impact.
Article Synopsis
- - Ruxolitinib has been approved for treating polycythemia vera patients who can't tolerate or are resistant to hydroxyurea, based on findings from the RESPONSE studies.
- - In a phase 3b study involving 161 patients, nearly 38% experienced adverse events that required dose adjustments, with anemia and thrombocytosis as the most common issues.
- - After 24 weeks, 45.3% of participants achieved hematocrit control, 18% had hematologic remission, and 86.7% saw a significant reduction in spleen size, with safety and efficacy similar to previous studies.
Shwachman-Diamond syndrome (SDS) is a recessive disorder typified by bone marrow failure and predisposition to hematological malignancies. SDS is predominantly caused by deficiency of the allosteric regulator Shwachman-Bodian-Diamond syndrome that cooperates with elongation factor-like GTPase 1 (EFL1) to catalyze release of the ribosome antiassociation factor eIF6 and activate translation. Here, we report biallelic mutations in EFL1 in 3 unrelated individuals with clinical features of SDS.
View Article and Find Full Text PDFHeterozygous germline mutations strongly predispose to leukemia, immunodeficiency, and/or lymphoedema. We describe a series of 79 patients (53 families) diagnosed since 2011, made up of all patients in France and Belgium, with a follow up of 2249 patients/years. Median age at first clinical symptoms was 18.
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- The study focuses on the long-term outcomes of 62 patients with myeloproliferative neoplasm-associated myelofibrosis treated with pegylated interferon-α2a, highlighting improvements in survival rates and mutational patterns.
- The median follow-up was 58 months, and nearly half of the patients were alive at the time of analysis, with those receiving pegylated interferon showing better survival compared to historical cohorts.
- Next-generation sequencing revealed that many patients had non-driver mutations, with the presence of additional mutations linked to poorer survival, reinforcing the potential benefits of pegylated interferon in this patient population.
Article Synopsis
- Myelofibrosis (MF) is a serious blood cancer that leads to low blood cell counts and various symptoms, especially in patients with low platelet levels (thrombocytopenia).
- A study examined the quality of life and symptom severity in 418 MF patients, showing that those with thrombocytopenia had significantly worse symptoms and higher total symptom scores compared to those without.
- Patients with severe thrombocytopenia faced even higher risks of anemia and other complications, highlighting the need for improved treatment options for these individuals.
Article Synopsis
- - The study investigates how gender affects the symptoms and complications of myeloproliferative neoplasms (MPNs), which include polycythemia vera, essential thrombocythemia, and myelofibrosis, involving 2,006 patients.
- - Findings reveal that females are more likely to experience severe and frequent symptoms compared to males, despite similar quality of life scores, with women particularly reporting worse abdominal and microvascular symptoms.
- - Males, on the other hand, are more likely to have polycythemia vera and experience complications such as thrombocytopenia and greater red blood cell transfusion requirements, along with shorter disease duration.
Article Synopsis
- Polycythemia vera (PV) is a condition linked to serious health issues and unpleasant symptoms, and JAK inhibitor therapy has shown promise for patients who have previously used hydroxyurea (HU) and experience symptoms like splenomegaly.
- A study evaluated 1,334 PV patients to investigate how previous HU use, phlebotomy needs, and splenomegaly contribute to symptom severity.
- Findings revealed that each of these factors is associated with a significant symptom burden, and having more than one feature increases the severity of symptoms, highlighting that patients with any of these issues experience considerable discomfort.
FDG-PET/CT findings in systemic mastocytosis: a French multicentre study.
Eur J Nucl Med Mol Imaging
December 2015
Introduction: Mastocytosis is a clonal haematological disease characterized by uncontrolled proliferation and the activation of mast cells. The value of FDG-PET/CT (FDG-PET) in mastocytosis has yet to be determined.
Methods: We retrospectively identified patients with an established diagnosis of systemic mastocytosis (SM), according to the WHO criteria, who underwent PET using the French Reference Centre for Mastocytosis database.