CHILDHOOD MASTOCYTOSIS NEW DEVELOPMENTS IN DIAGNOSIS AND TREATMENT

CHI775LDHOOD_MASTOCYTOSI775S_NEW_DEVELOPMENTS_IN_DI775AGNOSI775S_AND_TREATMENTKAPAK

INNOVATIONS IN THE TREATMENT OF CHILDHOOD MASTOCYTOSIS

Kazım Okan Dolu

Kanuni Sultan Süleyman Training and Research Hospital, Department of Pediatric Immunology and Allergy, İstanbul, Türkiye

Dolu KO. Innovations in the Treatment of Childhood Mastocytosis. In: Özdemir Ö, editor. Childhood Mastocytosis: New Developments in Diagnosis and Treatment. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.149-157.

ABSTRACT

Mastocytosis is a clonal mast cell disease resulting from somatic mutations in the c-KIT gene. While c-KIT D816V mutation is prevalent in adult systemic mastocytosis (>90%), it occurs less frequently in pediatric cases, influencing treatment strategies. In children, mastocytosis is typically limited to cutaneous involvement, with most cases showing spontaneous regression during puberty. Therefore, the majority of cases do not require cytoreductive or targeted therapies. The routine implementation of next-generation sequencing technologies and advances in molecular diagnostic methods have led to a better understanding of the disease’s molecular pathogenesis and have pioneered the development and clinical application of various targeted therapeutic options, particularly tyrosine kinase inhibitors. Among tyrosine kinase inhibitors, imatinib and midostaurin may benefit selected refractory cases in pediatric mastocytosis; however, studies demonstrating their long-term safety and efficacy are lacking. Biological therapies, particularly omalizumab, show promise in symptom control and ana- phylaxis prevention in both adults and children. New treatment options targeting various signaling pathways involved in mast cell maturation and survival in systemic mastocytosis are being developed. The efficacy and safety profiles of all these emerging new-generation treatments in the pediatric age group need to be established through future prospective studies.

Keywords: Mastocytosis; Molecular targeted therapy; Imatinib; Midostaurin; Omalizumab; Tyrosine kinase inhibitors

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