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Projects. Life and Earth Sciences

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

Lead Researcher:
Andrés Celestino García Montero

Research Centre:
Fundación de Investigación del Cáncer de la Universidad de Salamanca.

Synopsis: 

Andrés Celestino García MonteroSystemic 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.


Researcher's web address:
www.cicancer.org 



Andrés Celestino García Montero

Born in Valladolid in 1969, he took a degree in Biological Sciences from the University of Salamanca (1987-1992), where he studied for his doctorate in the Department of Physiology and Pharmacology (1997). He commenced studying molecular biology during his post-doctoral training in Unit 315 of the National Health and Medical Research Institute (Institut National de la Santé et la Recherche Médicale) (Marseille, France) (1998-2000) thanks to a visiting research contract (Poste Vert). In 2000, as a postdoctoral researcher, he joined the group of Dr. Alberto Orfao in the Salamanca Cancer Research Centre (CIC), working on subjects in connection with onco-haematology. In 2004 he obtained a position as Contracted Researcher of the National Health System (Miguel Servet contracts). Additionally, that same year he contributed, together with Dr. Alberto Orfao and Dr. Enrique de Álava, to the start-up of the National DNA Bank (University of Salamanca/ISCIII). Since that year he has combined his research work with the role of Technical Co-ordinator of the King Charles III National DNA Bank. He does his research work at the CIC, in the recognised research group "Citómica", where he works in the line of research into Mastocytosis, collaborating closely with clinical groups and researchers in the Spanish Mastocytosis Network (REMA). He has taken part in more than 25 projects, financed with public or private funds, of which he has been (or is) the principal investigator in 6 projects, and is the co-author of more than 40 articles in international scientific journals.


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