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The identification of genetic factors predicting for clonal progression in Systemic Mastocytosis

16th national competition for scientific and technical research

Rare diseases

Senior Researcher : Andrés Celestino García Montero

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Research Centre or Institution : Instituto de Biología Molecular y Celular del Cáncer. Universidad de Salamanca-CSIC.


Systemic mastocytosis (SM) is an acquired clonal disease in which the D816V mutation of KIT is present in almost all adult patients, including those types with an aggressive as well as those with an indolent clinical course. The aim is to identify the presence of genetic mutations secondary to the D816V KIT mutation in the exome of individuals who have progressed from indolent forms of SM to aggressive ones, and to discover the degree to which these mutations have infiltrated the haematopoiesis of patients with different types of SM, to determine their relevance in the severity and/or progression of the pathology. During the first six months of this project, 55 patients with indolent forms of the disease (ISM) monitored for at least 10 years by the Spanish Mastocytosis Network (REMA) were characterised clinically, phenotypically and molecularly. Of these patients, 10 progressed to more aggressive forms that may be life-threatening. The molecular characterisation of the pathological mastocytes and the different purified bone marrow hematopoietic cell lines from these patients enabled the identification of a subgroup in which the D816V KIT mutation appears very early in a stem cell. Interestingly, the percentage of patients who progress to aggressive forms is significantly higher in this group (39%) than is the case for those patients in whom the mutation appears in later phases of haematopoiesis (12.5%). The patients in the first group will probably have accumulated genetic alterations that have caused the disease to become malignant. Patients were selected from this group for NGS sequencing of their exome, to identify which secondary mutations may be the cause of the progression and severity of the disease.

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