Ultrastructural, cytogenetic, and molecular findings in mast cell leukemia: Case report

Abstract

Abstract We report a de novo aleukemic form of MCL with a complex monosomic karyotype with LOH for multiple chromosomes and TP53 mutation. Additionally, whereas D816V KIT was not found, the c‐Kit transmembrane domain p.M541L variant was detected which is the most common SNP of KIT gene in humans with controversial pathogenic role. In these cases, it is crucial to perform a rapid broad molecular study for an accurate diagnosis which could help to initiate targeted therapy.

Keywords

• acute leukemia
• genomics
• molecular biology
• systemic mastocytosis