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Updated: Jan 21, 2026

Investigating Mast Cell Secretory Granules; from Biosynthesis to Exocytosis
Published on: January 26, 2015
Ultrastructural, cytogenetic, and molecular findings in mast cell leukemia: Case report
Anna Bosch-Vilaseca1, Anna Monter-Rovira1, Sabina Cisa-Wieczorek1,2
1Laboratory of Hematology, Hematology Department Hospital de la Santa Creu i Sant Pau. Autonomous University of Barcelona (UAB) Barcelona Spain.
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.
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