CHILDHOOD MASTOCYTOSIS NEW DEVELOPMENTS IN DIAGNOSIS AND TREATMENT

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CHILDHOOD MASTOCYTOSIS AND C-KIT MUTATIONS

Şefika İlknur Kökcü Karadağ

Prof. Dr. Cemil Taşcıoğlu City Hospital, Department of Pediatric Immunology and Allergy, İstanbul, Türkiye

Kökcü Karadağ Şİ. Childhood Mastocytosis and c-KIT Mutations. In: Özdemir Ö, editor. Childhood Mastocytosis: New Developments in Diagnosis and Treatment. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.35-44.

ABSTRACT

Mastocytosis is a disease characterized by the uncontrolled proliferation of mast cells due to mutations in the c-KIT gene. These mutations significantly influence the pathogenesis, phenotypic features, and clinical course of the disease. c-KIT mutations serve as key determinants of disease phenotype and the extent of tissue involvement. Specifically, mutations in the tyrosine kinase domain, such as D816V, are associated with a more aggressive phenotype and systemic involvement. In contrast, mutations in the juxtamembrane and extracellular regions are linked to a slower disease progression. Detection of these mutations relies on molecular genetic techniques, including Allele-Specific PCR (AS-PCR), Next-Generation Sequencing (NGS), Droplet Digital PCR (ddPCR), and Sanger sequencing. The di- agnostic process involves the analysis of bone marrow aspiration, peripheral blood samples, and skin biopsy specimens. A comprehensive evaluation of these diagnostic methods is crucial for establishing a definitive diagnosis, determining prognosis, and developing personalized therapeutic approaches.

Keywords: Mastocytosis; c-KIT mutation; Tyrosine kinase; Diagnosis; Personalized therapy

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