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

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.

SUBMITTER: Bosch-Vilaseca A 

PROVIDER: S-EPMC6637364 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature