Systemic mastocytosis with an associated hematological neoplasm (acute myeloid leukaemia with RUNX1::RUNX1T1 fusion) – A case study

Systemic mastocytosis (SM) is a rare blood disorder that can affect multiple body organs. There are some patients of SM with coexpression hematological neoplasm designated in the World Health Organization classification as an associated (SM-AHN). A 13-year-old female was referred for immunophenotyping since blasts were reported bone marrow aspirate. On performing flow cytometry, abnormal myeloid (>20%) obtained on cytometry suggestive acute leukemia aberrant expression CD19. Furthermore, there increased mast cells abnormally expressing CD25. The aspiration slides reviewed showed atypical Type I and II. Molecular analysis revealed RUNX1::RUNX1T1 fusion well KIT D816V mutation. Karyotyping three-way translocation involving chromosomes 8, 12, 21 consistent fusion. Fluorescence situ hybridization (FISH) performed using dual color probe pattern This diagnosis could be reached result strong correlation between morphology, immunophenotyping, cytogenetics, molecular analysis, leading to better treatment plan patient.