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

doi:10.1002/ccr3.2208

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

Department of Medicine

Research output: Contribution to journal › Article › Research

2 Citations (Scopus)

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 language	English
Pages (from-to)	1395-1398
Journal	Clinical Case Reports
Volume	7
DOIs	https://doi.org/10.1002/ccr3.2208
Publication status	Published - 1 Jul 2019

Keywords

acute leukemia
genomics
molecular biology
systemic mastocytosis

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https://ddd.uab.cat/record/223960

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

abstract = "{\textcopyright} 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.",

keywords = "acute leukemia, genomics, molecular biology, systemic mastocytosis",

author = "Anna Bosch-Vilaseca and Anna Monter-Rovira and Sabina Cisa-Wieczorek and Guadalupe O{\~n}ate and Elena Bussaglia and Maite Carricondo and {\'A}ngel Remacha and Clara Mart{\'i}nez and Marta Pratcorona and Blanco, {Mar{\'i}a Laura} and Nomded{\'e}u, {Josep F.}",

year = "2019",

month = jul,

day = "1",

doi = "10.1002/ccr3.2208",

language = "English",

volume = "7",

pages = "1395--1398",

journal = "Clinical Case Reports",

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T1 - Ultrastructural, cytogenetic, and molecular findings in mast cell leukemia: Case report

AU - Bosch-Vilaseca, Anna

AU - Monter-Rovira, Anna

AU - Cisa-Wieczorek, Sabina

AU - Oñate, Guadalupe

AU - Bussaglia, Elena

AU - Carricondo, Maite

AU - Remacha, Ángel

AU - Martínez, Clara

AU - Pratcorona, Marta

AU - Blanco, María Laura

AU - Nomdedéu, Josep F.

PY - 2019/7/1

Y1 - 2019/7/1

N2 - © 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.

AB - © 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.

KW - acute leukemia

KW - genomics

KW - molecular biology

KW - systemic mastocytosis

U2 - 10.1002/ccr3.2208

DO - 10.1002/ccr3.2208

M3 - Article

C2 - 31360496

SN - 2050-0904

VL - 7

SP - 1395

EP - 1398

JO - Clinical Case Reports

JF - Clinical Case Reports

ER -

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

Abstract

Keywords

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