Journal Club: Mastocytosis: across the spectrum: pathobiology, clinical evaluation, and evolving therapies

Mastocytosis encompasses a heterogeneous group of clonal mast cell disorders ranging from cutaneous forms in children to advanced systemic mastocytosis (AdvSM) with significant morbidity. This review covers epidemiology, pathogenesis, diagnosis, and management, integrating World Health Organization (WHO)/International Consensus Classification (ICC) 2022 classification updates, molecular insights, and therapeutic advances. Pediatric cutaneous mastocytosis (CM) usually has a favourable prognosis and often resolves spontaneously, whereas adult-onset disease frequently reflects systemic involvement and warrants bone marrow biopsy. KIT D816V and non-D816V variants serve as key diagnostic and prognostic markers, guiding targeted therapy. Midostaurin and avapritinib have reshaped the treatment of AdvSM, while next-generation tyrosine-kinase inhibitors (TKIs) are in clinical trials. Multidisciplinary care is critical, and knowledge gaps remain in paediatric risk stratification, optimal sequencing of therapies, and disease progression assessment. This review highlights recent advances and future priorities for personalized, evidence-based care.