Systemic mastocytosis: a concise clinical and laboratory review

Area of Science:

• Hematology
• Oncology
• Immunology

Background:

• Systemic mastocytosis is a neoplastic disorder characterized by abnormal mast cell proliferation and accumulation in various organs.
• Clinical manifestations are diverse, ranging from skin lesions to mediator-related symptoms and organ damage (bone, liver, spleen, bowel, bone marrow).

Purpose of the Study:

• To provide a concise review of mast cell disorders, covering pathogenesis, classification, clinical features, diagnosis, and treatment.
• To highlight recent advancements in understanding and managing mast cell disorders.

Main Methods:

• Comprehensive literature review of research published in the last 20 years.
• Focus on key findings related to mast cell disorder diagnosis and therapy.

Main Results:

• Bone marrow histologic examination with immunohistochemistry is crucial for diagnosis.
• Ancillary tests like immunophenotyping, cytogenetics, molecular studies, and serum tryptase aid in diagnosis and prognosis.
• Treatment strategies are increasingly personalized based on molecular findings, particularly mutations like KIT D816V and FIP1L1-PDGFRA.

Conclusions:

• Diagnosis relies on bone marrow examination and supportive molecular/immunophenotypic studies.
• Symptomatic management is appropriate for low-burden disease.
• Targeted therapies, including imatinib mesylate for specific mutations, offer improved outcomes, alongside other options like interferon-alpha and novel tyrosine kinase inhibitors.