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How I diagnose systemic mastocytosis.

Anton V Rets1,2, Tracy I George1

  • 1Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, US.

American Journal of Clinical Pathology
|April 29, 2024
PubMed
Summary

Diagnosing systemic mastocytosis (SM), a rare mast cell neoplasm, is challenging due to its diverse presentation. This review details an approach integrating morphology, molecular, and serologic findings for accurate SM diagnosis and subclassification.

Keywords:
KIT D816Vbone marrowmast cellssystemic mastocytosis

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Area of Science:

  • Hematology
  • Oncology
  • Pathology

Background:

  • Systemic mastocytosis (SM) involves abnormal mast cell proliferation in organs beyond the skin.
  • SM encompasses various subtypes with distinct clinical behaviors and prognoses.
  • The rarity and varied presentation of SM pose significant diagnostic challenges.

Purpose of the Study:

  • To present a diagnostic approach for systemic mastocytosis.
  • To highlight the clinical and laboratory spectrum of SM through case examples.
  • To emphasize the importance of integrated diagnostic findings.

Main Methods:

  • Review of 4 cases illustrating the clinical and laboratory features of SM.
  • Emphasis on morphologic evaluation in the diagnostic process.
  • Integration of pathology, laboratory medicine, and ancillary studies.

Main Results:

  • Accurate SM diagnosis relies on combining morphologic, molecular, and serologic data.
  • Pathologists need to be aware of both microscopic findings and evolving ancillary tests, especially molecular diagnostics.
  • Case examples demonstrated the wide range of SM presentations.

Conclusions:

  • Systemic mastocytosis diagnosis requires confirming clonal mast cell proliferation.
  • Correct subclassification of SM is essential and should follow updated criteria.
  • An integrated diagnostic approach is crucial for managing SM.