Mastocytosis, a rare and multifaceted hematological condition, presents unique diagnostic challenges due to its diverse clinical manifestations and histomorphological features. This condition arises from the abnormal proliferation of mast cells, leading to their accumulation in the skin or various extracutaneous organs. Depending on the affected areas, mastocytosis is classified into two main types: Cutaneous Mastocytosis (CM) and Systemic Mastocytosis (SM).
CM, often seen in children, is limited to the skin and usually carries a favorable prognosis. In contrast, SM primarily affects adults and involves one or more extracutaneous organs. SM is further classified into subtypes, including indolent, smoldering, and aggressive forms, each requiring a tailored diagnostic and treatment approach. Advanced forms, such as mast cell leukemia, underscore the complexity of this disease.
The diagnostic process is intricate and relies on a combination of clinical evaluation, histomorphology, immunohistochemistry, and molecular techniques. Essential diagnostic markers include:
- Compact mast cell aggregates in tissues.
- Mutations in the KIT gene, particularly the KIT D816V mutation.
- Aberrant expression of antigens like CD25 and CD30.
Recent advancements, such as the use of tyrosine kinase inhibitors (TKIs) targeting KIT mutations, have opened new avenues for treatment, particularly for advanced SM. However, these therapeutic developments highlight the importance of accurate and timely diagnosis.
This comprehensive review emphasizes the need for a multidisciplinary approach involving hematopathologists, oncologists, and molecular biologists to ensure precise diagnosis and effective management. As research evolves, greater insights into mastocytosis will pave the way for innovative therapies, improving outcomes for patients worldwide.
Full Text: https://www.igminresearch.com/articles/html/igmin234
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