Publications by authors named "A Matito"

Background: Mastocytosis encompasses a heterogeneous group of diseases characterized by tissue accumulation of clonal mast cells, which frequently includes bone involvement. Several cytokines have been shown to play a role in the pathogenesis of bone mass loss in systemic mastocytosis (SM), but their role in SM-associated osteosclerosis remains unknown.

Objective: To investigate the potential association between cytokine and bone remodeling markers with bone disease in SM, aiming at identifying biomarker profiles associated with bone loss and/or osteosclerosis.

View Article and Find Full Text PDF

Background: Current diagnostic algorithms for systemic mastocytosis (SM) rely on the detection of KITD816V in blood to trigger subsequent bone marrow (BM) investigations.

Methods: Here, we correlated the KITD816V mutational status of paired blood and BM samples from 368 adults diagnosed with mast cell activation syndrome (MCAS) and mastocytosis and determined the potential utility of investigating KITD816V in genomic DNA from blood-purified myeloid cell populations to increase diagnostic sensitivity. In a subset of 69 patients, we further evaluated the kinetics of the KITD816V cell burden during follow-up and its association with disease outcome.

View Article and Find Full Text PDF

Background: Mast cells (MC) from systemic mastocytosis (SM) patients release MC mediators that lead to an altered microenvironment with potential consequences on innate immune cells, such as monocytes and dendritic cells (DC). Here we investigated the distribution and functional behaviour of different populations of blood monocytes and DC among distinct diagnostic subtypes of SM.

Methods: Overall, we studied 115 SM patients - 45 bone marrow mastocytosis (BMM), 61 indolent SM (ISM), 9 aggressive SM (ASM)- and 32 healthy donors (HD).

View Article and Find Full Text PDF

Background: Nonsteroidal anti-inflammatory drugs (NSAIDs) are frequently avoided in mastocytosis, because of a potential increased risk for drug hypersensitivity reactions (DHRs) due to inhibition of cyclo-oxygenase (COX), subsequent depletion of prostaglandin E and release of leukotrienes.

Objectives: Here, we aimed at determining the prevalence of mast cell (MC) mediator release symptoms triggered by NSAIDs in mastocytosis patients and the associated clinical and laboratory features of the disease.

Methods: Medical records from 418 adults to 223 pediatric mastocytosis patients were retrospectively reviewed.

View Article and Find Full Text PDF
Article Synopsis
  • Circulating tumor mast cells (CTMCs) were found in many patients with advanced systemic mastocytosis (SM), particularly in nearly all advanced and smoldering cases, but were absent in those with cutaneous mastocytosis (CM) and mast cell activation syndrome (MCAS).
  • A study involving 214 patients revealed that higher CTMC counts were linked to worse disease features and prognostic scores, indicating more severe disease and shorter survival times.
  • The findings suggest that CTMCs could serve as a new biomarker for advanced SM, indicating a poorer prognosis, especially for patients with indolent SM (ISM).
View Article and Find Full Text PDF