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肥大细胞白血病：c-KIT 突变并非总是呈阳性。

Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive.

作者信息

Joris Magalie, Georgin-Lavialle Sophie, Chandesris Marie-Olivia, Lhermitte Ludovic, Claisse Jean-François, Canioni Danielle, Hanssens Katia, Damaj Gandhi, Hermine Olivier, Hamidou Mohammed

机构信息

Service d'Hématologie, Centre Hospitalier Universitaire, Avenue Laennec, 80054 Amiens, France.

出版信息

Case Rep Hematol. 2012;2012:517546. doi: 10.1155/2012/517546. Epub 2012 Sep 10.

DOI:10.1155/2012/517546
PMID:22997594
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3444844/
Abstract

Mast cell leukemia (MCL) is a rare and aggressive disease with poor prognosis and short survival time. D816V c-KIT mutation is the most frequent molecular abnormality and plays a crucial role in the pathogenesis and development of the disease. Thus, comprehensive diagnostic investigations and molecular studies should be carefully carried out to facilitate the therapeutic choice. A MCL patient's case with rare phenotypic and genotypic characteristics is described with review of major clinical biological and therapeutic approaches in MCL.

摘要

肥大细胞白血病（MCL）是一种罕见且侵袭性强的疾病，预后较差，生存时间短。D816V c-KIT突变是最常见的分子异常，在该疾病的发病机制和发展中起关键作用。因此，应仔细进行全面的诊断检查和分子研究，以促进治疗选择。本文描述了一例具有罕见表型和基因型特征的MCL患者病例，并回顾了MCL的主要临床生物学和治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed4e/3444844/b713691a16eb/CRIM.HEMATOLOGY2012-517546.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed4e/3444844/b713691a16eb/CRIM.HEMATOLOGY2012-517546.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed4e/3444844/b713691a16eb/CRIM.HEMATOLOGY2012-517546.001.jpg

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2
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