KIT D816V–mutated bone marrow mesenchymal stem cells in indolent systemic mastocytosis are associated with disease progression

Author:

Garcia-Montero Andres C.1,Jara-Acevedo Maria2,Alvarez-Twose Ivan3,Teodosio Cristina4,Sanchez-Muñoz Laura3,Muñiz Carmen1,Muñoz-Gonzalez Javier I.1,Mayado Andrea1,Matito Almudena3,Caldas Carolina1,Morgado Jose M.3,Escribano Luis1,Orfao Alberto1

Affiliation:

1. Servicio General de Citometría (NUCLEUS) and

2. Servicio de Secuenciación de ADN, Centro de Investigación del Cáncer (Instituto de Biología Molecular y Celular del Cancer–Consejo Superior de Investigaciones Científicas [IBMCC-CSIC]/Universidad de Salamanca [USAL] and Institute of Biomedical Research of Salamanca [IBSAL]) and Departamento de Medicina, Universidad de Salamanca, Salamanca, Spain;

3. Instituto de Estudios de Mastocitosis de Castilla La Mancha (CLMast), Hospital Virgen del Valle, Toledo, Spain; and

4. Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands

Abstract

Key Points Acquisition of the KIT D816V mutation in an early pluripotent progenitor cell confers ISM cases a greater risk for disease progression. Despite the early acquisition of the KIT mutation, onset of clinical symptoms of ISM is often delayed to middle adulthood.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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