Mast cell tumor diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Suveenkrishna Pothuru, M.B,B.S. [2]

Overview

The diagnosis of systemic mastocytosis is based on the presence of one major criterion and one minor criterion or three minor criteria. Major criteria include the presence of multifocal dense infiltrates of mast cells observed in bone marrow sections or other extra cutaneous organs.[1] Four minor criteria include the presence >25% abnormal spindle-shaped mast cells in bone marrow and/or tissues, detection of Kit mutation at codon 816 in bone marrow or extracutaneous organ(s), the expression of CD2 and CD25 surface markers in C-kit positive mast cells from bone marrow or other organs, and elevated serum tryptase levels >20 ng/mL.

Diagnostic Study of Choice

There is no single diagnostic study of choice for the diagnosis of mast cell tumor.

Diagnostic Criteria

Cutaneous Mastocytosis

Diagnostic criteria for cutaneous mastocytosis
Skin lesions detected by inspection
Positive histology
Absence of criteria required to diagnose systemic mastocytosis

Systemic Mastocytosis

Systemic mastocytosis is confirmed if at least one major and one minor criterion or at least three minor criteria are fulfilled. Following table illustrates the major and minor criteria for diagnosis of systemic mastocytosis:

Criteria Description

Major

  • Multifocal dense infiltrates of mast cells (>15 mast cells in aggregate) observed in bone marrow sections or other extracutaneous organ(s)

Minor

  • Mast cells in bone marrow or other extracutaneous organ(s) show an abnormal (spindle-shaped) morphology (>25%)
  • Detection of KIT mutation at codon 816 in bone marrow or extracutaneous organ(s)
  • Mast cell in bone marrow express CD2 and/or CD25
  • Serum total tryptase persistently >20 ng/ml (does not count in patients who have associated clonal myeloid disorder)

Biopsy

Biopsy of affected organ may be performed to detect possible accumulation of mast cells in an involved tissue. The diagnosis of systemic mastocytosis is established by demonstrating mast cell infiltration in an involved tissue, particularly the bone marrow, using special staining techniques or flow cytometry.[2]

  • Skin biopsy
  • Bone marrow biopsy[1]
  • Exclude hematologic non-mast cell lineage diseases
  • Detect a possible accumulation of mast cells
  • Detect possible morphologic/immunohistochemical/genetic pathological alterations of mast cells

References

  1. 1.0 1.1 Molderings, Gerhard J; Brettner, Stefan; Homann, Jürgen; Afrin, Lawrence B (2011). "Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options". Journal of Hematology & Oncology. 4 (1): 10. doi:10.1186/1756-8722-4-10. ISSN 1756-8722.
  2. Koenig, Martial; Morel, Jérôme; Reynaud, Jacqueline; Varvat, Cécile; Cathébras, Pascal (2008). "An unusual cause of spontaneous bleeding in the intensive care unit – mastocytosis: a case report". Cases Journal. 1 (1): 100. doi:10.1186/1757-1626-1-100. ISSN 1757-1626.

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