Diagnosis of Adult Mastocytosis: Role for Bone Marrow Analysis
Luis Escribano MD, PhD
Instituto de Estudios de Mastocitosis de Castilla La Mancha, Hospital Virgen del Valle, Toledo, Spain
Search for more papers by this authorAndrés Garcia-Montero PhD
Departamento de Medicina, Instituto de Biología Celular y Molecular del Cáncer, Centro de Investigación del Cáncer/IBMCC (CSIC-USAL), Universidad de Salamanca, Salamanca, Spain
Search for more papers by this authorLaura Sanchez-Muñoz MD, PhD
Instituto de Estudios de Mastocitosis de Castilla La Mancha, Hospital Virgen del Valle, Toledo, Spain
Search for more papers by this authorCristina Teodosio MSc
Departamento de Medicina, Instituto de Biología Celular y Molecular del Cáncer, Centro de Investigación del Cáncer/IBMCC (CSIC-USAL), Universidad de Salamanca, Salamanca, Spain
Search for more papers by this authorIvan Alvarez-Twose MD
Instituto de Estudios de Mastocitosis de Castilla La Mancha, Hospital Virgen del Valle, Toledo, Spain
Search for more papers by this authorMaria Jara-Acevedo MSc
Departamento de Medicina, Instituto de Biología Celular y Molecular del Cáncer, Centro de Investigación del Cáncer/IBMCC (CSIC-USAL), Universidad de Salamanca, Salamanca, Spain
Search for more papers by this authorJosé Mario Morgado MSc
Instituto de Estudios de Mastocitosis de Castilla La Mancha, Hospital Virgen del Valle, Toledo, Spain
Search for more papers by this authorJulia Almeida MD, PhD
Departamento de Medicina, Instituto de Biología Celular y Molecular del Cáncer, Centro de Investigación del Cáncer/IBMCC (CSIC-USAL), Universidad de Salamanca, Salamanca, Spain
Search for more papers by this authorAlberto Orfao MD, PhD
Departamento de Medicina, Instituto de Biología Celular y Molecular del Cáncer, Centro de Investigación del Cáncer/IBMCC (CSIC-USAL), Universidad de Salamanca, Salamanca, Spain
Search for more papers by this authorLuis Escribano MD, PhD
Instituto de Estudios de Mastocitosis de Castilla La Mancha, Hospital Virgen del Valle, Toledo, Spain
Search for more papers by this authorAndrés Garcia-Montero PhD
Departamento de Medicina, Instituto de Biología Celular y Molecular del Cáncer, Centro de Investigación del Cáncer/IBMCC (CSIC-USAL), Universidad de Salamanca, Salamanca, Spain
Search for more papers by this authorLaura Sanchez-Muñoz MD, PhD
Instituto de Estudios de Mastocitosis de Castilla La Mancha, Hospital Virgen del Valle, Toledo, Spain
Search for more papers by this authorCristina Teodosio MSc
Departamento de Medicina, Instituto de Biología Celular y Molecular del Cáncer, Centro de Investigación del Cáncer/IBMCC (CSIC-USAL), Universidad de Salamanca, Salamanca, Spain
Search for more papers by this authorIvan Alvarez-Twose MD
Instituto de Estudios de Mastocitosis de Castilla La Mancha, Hospital Virgen del Valle, Toledo, Spain
Search for more papers by this authorMaria Jara-Acevedo MSc
Departamento de Medicina, Instituto de Biología Celular y Molecular del Cáncer, Centro de Investigación del Cáncer/IBMCC (CSIC-USAL), Universidad de Salamanca, Salamanca, Spain
Search for more papers by this authorJosé Mario Morgado MSc
Instituto de Estudios de Mastocitosis de Castilla La Mancha, Hospital Virgen del Valle, Toledo, Spain
Search for more papers by this authorJulia Almeida MD, PhD
Departamento de Medicina, Instituto de Biología Celular y Molecular del Cáncer, Centro de Investigación del Cáncer/IBMCC (CSIC-USAL), Universidad de Salamanca, Salamanca, Spain
Search for more papers by this authorAlberto Orfao MD, PhD
Departamento de Medicina, Instituto de Biología Celular y Molecular del Cáncer, Centro de Investigación del Cáncer/IBMCC (CSIC-USAL), Universidad de Salamanca, Salamanca, Spain
Search for more papers by this authorKandice Kottke-Marchant MD, PhD
Pathology & Laboratory Medicine Institute, Cleveland, OH, USA
Department of Pathology, Cleveland Clinic Lerner College of Medicine, Cleveland, OH, USA
Hemostasis and Thrombosis, Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA
Search for more papers by this authorSummary
Major advances have been made in recent years in the diagnosis and classification of mastocytosis. The WHO classification proposed in 2001 provided well-defined consensus clinical and laboratory criteria for the diagnosis of systemic involvement and the classification of the disease into seven well-defined categories with their prognostic implications. More recently, additional refined criteria and recommendations for the standardization of clinical and laboratory diagnostic tests have been published and new categories of the disease have been further defined; in turn, other variables associated with disease progression and patient survival, such as the pattern of involvement of bone marrow hematopoiesis by the KIT mutation, have been identified. Altogether, these findings indicate that the molecular, histologic, cytologic, and immunophenotypic features of bone marrow mast cells, in combination with the presence of mastocytosis in the skin and/or anaphylaxis and serum baseline tryptase levels, are essential tools in the diagnosis, classification, and prognostic stratification of adult mastocytosis.
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