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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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
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author 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.
author_facet 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.
author_sort Bosch‐Vilaseca, Anna
collection PubMed
description 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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spelling pubmed-66373642019-07-29 Ultrastructural, cytogenetic, and molecular findings in mast cell leukemia: Case report 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. Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2019-06-11 /pmc/articles/PMC6637364/ /pubmed/31360496 http://dx.doi.org/10.1002/ccr3.2208 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
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.
Ultrastructural, cytogenetic, and molecular findings in mast cell leukemia: Case report
title Ultrastructural, cytogenetic, and molecular findings in mast cell leukemia: Case report
title_full Ultrastructural, cytogenetic, and molecular findings in mast cell leukemia: Case report
title_fullStr Ultrastructural, cytogenetic, and molecular findings in mast cell leukemia: Case report
title_full_unstemmed Ultrastructural, cytogenetic, and molecular findings in mast cell leukemia: Case report
title_short Ultrastructural, cytogenetic, and molecular findings in mast cell leukemia: Case report
title_sort ultrastructural, cytogenetic, and molecular findings in mast cell leukemia: case report
topic Case Reports
url 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
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