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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

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

Bosch-Vilaseca Anna A Monter-Rovira Anna A Cisa-Wieczorek Sabina S Oñate Guadalupe G Bussaglia Elena E Carricondo Maite M Remacha Ángel Á Martínez Clara C Pratcorona Marta M Blanco María Laura ML Nomdedéu Josep F JF

Clinical case reports 20190611 7

We report a <i>de novo</i> 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. ...[more]

PMID: 31360496

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