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

Anna Bosch-Vilaseca, Anna Monter-Rovira, Sabina Cisa-Wieczorek, Guadalupe Oñate, Elena Bussaglia, Maite Carricondo, Ángel Remacha, Clara Martínez, Marta Pratcorona, María Laura Blanco, Josep F. Nomdedéu

    Research output: Contribution to journalArticleResearch

    Abstract

    © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. 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.
    Original languageEnglish
    Pages (from-to)1395-1398
    JournalClinical Case Reports
    Volume7
    DOIs
    Publication statusPublished - 1 Jul 2019

    Keywords

    • acute leukemia
    • genomics
    • molecular biology
    • systemic mastocytosis

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