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Mastocytosis (cutaneous and systemic): Evaluation and diagnosis in adults

Authors
Mariana C Castells, MD, PhD
Cem Akin, MD, PhD
Section Editor
Bruce S Bochner, MD
Deputy Editor
Anna M Feldweg, MD

INTRODUCTION

Mastocytosis describes a group of disorders in which there is pathologic accumulation of mast cells in tissues. These diseases can be limited to the skin (cutaneous mastocytosis [CM]) or involve extracutaneous tissues (systemic mastocytosis [SM]).

The evaluation and diagnosis of the different forms of CM and SM in adults are reviewed here. The evaluation and diagnosis in children, the clinical manifestations of mastocytosis, the treatment of mastocytosis, and the biology of mast cells are discussed separately:

(See "Mastocytosis (cutaneous and systemic): Evaluation and diagnosis in children".)

(See "Mastocytosis (cutaneous and systemic): Epidemiology, pathogenesis, and clinical manifestations".)

(See "Treatment and prognosis of cutaneous mastocytosis".)

                                     

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Literature review current through: Nov 2016. | This topic last updated: Mon Jul 25 00:00:00 GMT 2016.
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References
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  1. Horny HP, Metcalf DD, Bennett JM, et al. Mastocytosis. In: WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues, Swerdlow SH, Campo E, Harris NL, et al (Eds), Lyon IARC Press, Lyon 2008. p.54.
  2. Proelss J, Wenzel J, Ko Y, et al. Tryptase detection in bone-marrow blood: a new diagnostic tool in systemic mastocytosis. J Am Acad Dermatol 2007; 56:453.
  3. Wolff K, Komar M, Petzelbauer P. Clinical and histopathological aspects of cutaneous mastocytosis. Leuk Res 2001; 25:519.
  4. Hollmann TJ, Brenn T, Hornick JL. CD25 expression on cutaneous mast cells from adult patients presenting with urticaria pigmentosa is predictive of systemic mastocytosis. Am J Surg Pathol 2008; 32:139.
  5. Soter NA. Mastocytosis and the skin. Hematol Oncol Clin North Am 2000; 14:537.
  6. Bodemer C, Hermine O, Palmérini F, et al. Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. J Invest Dermatol 2010; 130:804.
  7. Sotlar K, Escribano L, Landt O, et al. One-step detection of c-kit point mutations using peptide nucleic acid-mediated polymerase chain reaction clamping and hybridization probes. Am J Pathol 2003; 162:737.
  8. Méni C, Bruneau J, Georgin-Lavialle S, et al. Paediatric mastocytosis: a systematic review of 1747 cases. Br J Dermatol 2015; 172:642.
  9. Schwartz LB, Metcalfe DD, Miller JS, et al. Tryptase levels as an indicator of mast-cell activation in systemic anaphylaxis and mastocytosis. N Engl J Med 1987; 316:1622.
  10. Escribano L, Alvarez-Twose I, Sánchez-Muñoz L, et al. Prognosis in adult indolent systemic mastocytosis: a long-term study of the Spanish Network on Mastocytosis in a series of 145 patients. J Allergy Clin Immunol 2009; 124:514.
  11. Bonadonna P, Gonzalez-de-Olano D, Zanotti R, et al. Venom immunotherapy in patients with clonal mast cell disorders: efficacy, safety, and practical considerations. J Allergy Clin Immunol Pract 2013; 1:474.
  12. Sheridan RL, Liu V, Anupindi S. Case records of the Massachusetts General Hospital. Case 34-2005. A 10-year-old girl with a bullous skin eruption and acute respiratory failure. N Engl J Med 2005; 353:2057.
  13. Walker T, von Komorowski G, Scheurlen W, et al. Neonatal mastocytosis with pachydermic bullous skin without c-Kit 816 mutation. Dermatology 2006; 212:70.
  14. Murphy M, Walsh D, Drumm B, Watson R. Bullous mastocytosis: a fatal outcome. Pediatr Dermatol 1999; 16:452.
  15. Schwartz LB, Irani AM. Serum tryptase and the laboratory diagnosis of systemic mastocytosis. Hematol Oncol Clin North Am 2000; 14:641.
  16. Schwartz LB, Sakai K, Bradford TR, et al. The alpha form of human tryptase is the predominant type present in blood at baseline in normal subjects and is elevated in those with systemic mastocytosis. J Clin Invest 1995; 96:2702.
  17. Kristensen T, Vestergaard H, Bindslev-Jensen C, et al. Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis. Am J Hematol 2014; 89:493.
  18. Arock M, Sotlar K, Akin C, et al. KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis. Leukemia 2015; 29:1223.
  19. In the United States, testing is available through Quest Diagnostics (CPT code 81402) and Mayo Clinic Laboratories (Test code KITB).
  20. In the United States, testing is available through Quest Diagnostics (CPT code 82402) and Mayo Clinic Laboratories. (Accessed on November 02, 2015).
  21. Valent P, Sperr WR, Schwartz LB, Horny HP. Diagnosis and classification of mast cell proliferative disorders: delineation from immunologic diseases and non-mast cell hematopoietic neoplasms. J Allergy Clin Immunol 2004; 114:3.
  22. Akin C, Metcalfe DD. Systemic mastocytosis. Annu Rev Med 2004; 55:419.
  23. Akin C, Scott LM, Kocabas CN, et al. Demonstration of an aberrant mast-cell population with clonal markers in a subset of patients with "idiopathic" anaphylaxis. Blood 2007; 110:2331.
  24. González de Olano D, de la Hoz Caballer B, Núñez López R, et al. Prevalence of allergy and anaphylactic symptoms in 210 adult and pediatric patients with mastocytosis in Spain: a study of the Spanish network on mastocytosis (REMA). Clin Exp Allergy 2007; 37:1547.
  25. Tan A, Westerman D, McArthur GA, et al. Sensitive detection of KIT D816V in patients with mastocytosis. Clin Chem 2006; 52:2250.
  26. Some centers with extensive experience in the United States include Brigham and Women's Hospital, the National Institutes of Health (NIH), Mayo Clinic, and MD Anderson Cancer Center.
  27. Weidner N, Austen KF. Heterogeneity of mast cells at multiple body sites. Fluorescent determination of avidin binding and immunofluorescent determination of chymase, tryptase, and carboxypeptidase content. Pathol Res Pract 1993; 189:156.
  28. Escribano L, Orfao A, Díaz-Agustin B, et al. Indolent systemic mast cell disease in adults: immunophenotypic characterization of bone marrow mast cells and its diagnostic implications. Blood 1998; 91:2731.
  29. Parker RI. Hematologic aspects of mastocytosis: I: Bone marrow pathology in adult and pediatric systemic mast cell disease. J Invest Dermatol 1991; 96:47S.
  30. Parker RI. Hematologic aspects of systemic mastocytosis. Hematol Oncol Clin North Am 2000; 14:557.
  31. Irani AM, Bradford TR, Kepley CL, et al. Detection of MCT and MCTC types of human mast cells by immunohistochemistry using new monoclonal anti-tryptase and anti-chymase antibodies. J Histochem Cytochem 1989; 37:1509.
  32. Horny HP, Parwaresch MR, Lennert K. Bone marrow findings in systemic mastocytosis. Hum Pathol 1985; 16:808.
  33. Akin C, Valent P, Escribano L. Urticaria pigmentosa and mastocytosis: the role of immunophenotyping in diagnosis and determining response to treatment. Curr Allergy Asthma Rep 2006; 6:282.
  34. Escribano L, Díaz-Agustín B, Bellas C, et al. Utility of flow cytometric analysis of mast cells in the diagnosis and classification of adult mastocytosis. Leuk Res 2001; 25:563.
  35. Kristensen T, Vestergaard H, Møller MB. Improved detection of the KIT D816V mutation in patients with systemic mastocytosis using a quantitative and highly sensitive real-time qPCR assay. J Mol Diagn 2011; 13:180.
  36. Kristensen T, Broesby-Olsen S, Vestergaard H, et al. Circulating KIT D816V mutation-positive non-mast cells in peripheral blood are characteristic of indolent systemic mastocytosis. Eur J Haematol 2012; 89:42.
  37. Akin C. Molecular diagnosis of mast cell disorders: a paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology. J Mol Diagn 2006; 8:412.
  38. Doyle LA, Sepehr GJ, Hamilton MJ, et al. A clinicopathologic study of 24 cases of systemic mastocytosis involving the gastrointestinal tract and assessment of mucosal mast cell density in irritable bowel syndrome and asymptomatic patients. Am J Surg Pathol 2014; 38:832.
  39. Doyle LA, Hornick JL. Pathology of extramedullary mastocytosis. Immunol Allergy Clin North Am 2014; 34:323.
  40. Jensen RT. Gastrointestinal abnormalities and involvement in systemic mastocytosis. Hematol Oncol Clin North Am 2000; 14:579.
  41. Hahn HP, Hornick JL. Immunoreactivity for CD25 in gastrointestinal mucosal mast cells is specific for systemic mastocytosis. Am J Surg Pathol 2007; 31:1669.
  42. Castells MC, Friend DS, Bunnell CA, et al. The presence of membrane-bound stem cell factor on highly immature nonmetachromatic mast cells in the peripheral blood of a patient with aggressive systemic mastocytosis. J Allergy Clin Immunol 1996; 98:831.
  43. Akin C, Valent P, Metcalfe DD. Mast cell activation syndrome: Proposed diagnostic criteria. J Allergy Clin Immunol 2010; 126:1099.
  44. Valent P, Akin C, Arock M, et al. Definitions, criteria and global classification of mast cell disorders with special reference to mast cell activation syndromes: a consensus proposal. Int Arch Allergy Immunol 2012; 157:215.
  45. The laboratory can be contacted at (804) 828-9685.
  46. Sperr WR, El-Samahi A, Kundi M, et al. Elevated tryptase levels selectively cluster in myeloid neoplasms: a novel diagnostic approach and screen marker in clinical haematology. Eur J Clin Invest 2009; 39:914.