IP: Dr. José Claros Parra

Resumen del proyecto: The overall objective of the project is to design, develop and validate a comprehensive solution for the early diagnosis of mastocytosis based on minimally invasive techniques that avoid diagnostic screening in bone marrow. Mastocytosis is a heterogeneous group of diseases characterised by clonal proliferation of mast cells in different organs. Although several genetic alterations in the mast cell have been described, alterations in the KIT gene are the most important from a pathogenic point of view. Of these, the somatic mutation at codon 816 of the KIT gene is the most frequent, especially in patients with systemic mastocytosis (SM). Currently, the prevalence of the disease is 9-13 cases per 100,000 individuals, making it a rare disease. From the point of view of the clinical manifestations of the disease, anaphylaxis is a fairly frequent form of presentation in one of the types of mastocytosis, the so-called mast cell activation syndromes (MAS), being a risk factor for severe and even fatal reactions following hymenoptera stings. The diagnosis of mastocytosis is usually very invasive, requiring a bone marrow (BM) sample to determine the presence of mast cells and, if present, to analyse their morphology, biochemistry, phenotype and the presence of the p.D816V mutation. This mutation has also been described in peripheral blood (PB), but with very low sensitivity, due to the low number of mast cells in PB, which makes their isolation and subsequent analysis very difficult. This limitation means that in many patients who do not meet the criteria for suspected MS, OM biopsy is not performed or is delayed, resulting in a lack of definitive diagnosis or misdiagnosis and leading to the number of patients with mastocytosis and especially SAM being greatly underestimated. The possibility of having a test with sufficient sensitivity to carry out the analysis in peripheral blood (the so-called liquid biopsy) would revolutionise the way in which the diagnosis and follow-up of this heterogeneous group of pathologies is carried out, and would be rapidly implemented in clinical practice, since it would be a minimally invasive test for the patient and with fewer contraindications than an OM aspirate. However, to achieve this goal, it is essential to address the development of new methods and reagents with sufficient sensitivity for the integral analysis (phenotype, biochemistry and mutation) of mast cells in SP, which is the main objective of this project Scientific and technological objectives and expected results.

Entidad financiadora: Immunostep S.L.