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

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 controv...

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Detalles Bibliográficos
Autores principales: Bosch‐Vilaseca, Anna, Monter‐Rovira, Anna, Cisa‐Wieczorek, Sabina, Oñate, Guadalupe, Bussaglia, Elena, Carricondo, Maite, Remacha, Ángel, Martínez, Clara, Pratcorona, Marta, Blanco, María Laura, Nomdedéu, Josep F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637364/
https://www.ncbi.nlm.nih.gov/pubmed/31360496
http://dx.doi.org/10.1002/ccr3.2208
Descripción
Sumario: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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