29. Diagnosis of Adult Mastocytosis: Role for Bone Marrow Analysis

  1. Kandice Kottke-Marchant MD, PhD3,4,5 and
  2. Bruce H. Davis MD6
  1. Luis Escribano MD, PhD1,
  2. Andrés Garcia-Montero PhD2,
  3. Laura Sanchez-Muñoz MD, PhD1,
  4. Cristina Teodosio MSc2,
  5. Ivan Alvarez-Twose MD1,
  6. Maria Jara-Acevedo MSc2,
  7. José Mario Morgado MSc1,
  8. Julia Almeida MD, PhD2 and
  9. Alberto Orfao MD, PhD2

Published Online: 8 AUG 2012

DOI: 10.1002/9781444398595.ch29

Laboratory Hematology Practice

Laboratory Hematology Practice

How to Cite

Escribano, L., Garcia-Montero, A., Sanchez-Muñoz, L., Teodosio, C., Alvarez-Twose, I., Jara-Acevedo, M., Morgado, J. M., Almeida, J. and Orfao, A. (2012) Diagnosis of Adult Mastocytosis: Role for Bone Marrow Analysis, in Laboratory Hematology Practice (eds K. Kottke-Marchant and B. H. Davis), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444398595.ch29

Editor Information

  1. 3

    Pathology & Laboratory Medicine Institute, Cleveland, OH, USA

  2. 4

    Department of Pathology, Cleveland Clinic Lerner College of Medicine, Cleveland, OH, USA

  3. 5

    Hemostasis and Thrombosis, Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA

  4. 6

    Trillium Diagnostics, LLC, Bangor, ME, USA

Author Information

  1. 1

    Instituto de Estudios de Mastocitosis de Castilla La Mancha, Hospital Virgen del Valle, Toledo, Spain

  2. 2

    Departamento de Medicina, Instituto de Biología Celular y Molecular del Cáncer, Centro de Investigación del Cáncer/IBMCC (CSIC-USAL), Universidad de Salamanca, Salamanca, Spain

Publication History

  1. Published Online: 8 AUG 2012
  2. Published Print: 10 APR 2012

ISBN Information

Print ISBN: 9781405162180

Online ISBN: 9781444398595



  • mastocytosis;
  • mast cells;
  • bone marrow histology;
  • mast cell cytomorphology;
  • KIT mutation;
  • immunophenotype;
  • flow cytometry;
  • tryptase;
  • diagnosis;
  • prognosis


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.