Mastocytosis: Imaging Spectrum and Diagnostic Insights

Area of Science:

• Radiology
• Oncology
• Hematology

Background:

• Mastocytosis is a rare clonal disorder of mast cell proliferation, primarily driven by c-KIT mutations.
• Classified by WHO into cutaneous, systemic, and mast cell sarcoma, with varying prevalence and severity.
• Skeletal involvement is common, presenting as osteosclerosis or osteolytic lesions.

Purpose of the Study:

• To review the pathogenesis, classification, and imaging features of mastocytosis.
• To highlight multiorgan involvement and potential diagnostic mimics.
• To emphasize the role of imaging in early diagnosis and workup.

Main Methods:

• Review of imaging modalities including radiographs, CT, MRI, and PET/CT.
• Correlation of imaging findings with clinical and laboratory markers (serum tryptase, bone marrow biopsy).
• Discussion of differential diagnoses, including metastatic disease and myeloproliferative disorders.

Main Results:

• Skeletal involvement is the most frequent radiologic feature, visualized on radiographs and CT.
• MRI is crucial for bone marrow infiltration assessment; PET/CT aids in differentiating subtypes.
• Advanced disease may show hepatosplenomegaly, lymphadenopathy, and GI thickening.

Conclusions:

• Characteristic imaging findings can prompt early suspicion of mastocytosis.
• Correlation with clinical and laboratory data is essential for accurate diagnosis.
• Histopathologic confirmation remains the reference standard for mastocytosis.