Chronic neutrophilic leukemia with overexpression of EVI-1, and concurrent CSF3R and SETBP1 mutations: A case report

Chronic neutrophilic leukemia (CNL) is a rare type of myeloproliferative neoplasm, characterized by sustained neutrophilia, splenomegaly, bone marrow granulocytic hyperplasia (without evidence of dysplasia) and an absence of the Philadelphia chromosome. Thus far, ~150 cases of CNL have been describe...

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Bibliographic Details
Published in:Oncology letters 2015-09, Vol.10 (3), p.1694-1700
Main Authors: ALTANGEREL, OTGONBAT, CAO, SHANNAN, MENG, JUANXIA, LIU, PENG, HAIYAN, GONG, XU, YUANFU, ZHAO, MINGFENG
Format: Article
Language:English
Subjects:
Biopsy
Blood
Bone marrow
Care and treatment
Case reports
Cellular proteins
Chromosomes
chronic neutrophilic leukemia
colony stimulating factor 3 receptor mutation
Development and progression
ecotropic viral integration site-1
Edema
Gene expression
Gene mutations
Genetic aspects
Granulocytes
Growth factors
Health aspects
Kinases
Laboratories
Leukemia
Medical prognosis
Mutation
Myeloproliferative disorders
Neutrophils
Oncology
Pathogenesis
Patients
Phosphatase
Physiology
Proteins
SET binding receptor mutation
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Summary:Chronic neutrophilic leukemia (CNL) is a rare type of myeloproliferative neoplasm, characterized by sustained neutrophilia, splenomegaly, bone marrow granulocytic hyperplasia (without evidence of dysplasia) and an absence of the Philadelphia chromosome. Thus far, ~150 cases of CNL have been described in the literature; however, none have demonstrated overexpression of the ecotropic viral integration site-1 (EVI-1, also known as MECOM) gene. The present study describes a case that fulfilled the World Health Organization diagnostic criteria for CNL, and was associated with overexpression of EVI-1, as well as novel concurrent mutations of colony stimulating factor 3 receptor (CSF3R) and SET binding protein-1 (SETBP1). In addition, the current study briefly reviewed the relevant literature regarding novel genetic findings associated with the diagnosis and treatment of CNL. To the best of our knowledge, this is the first case report of CNL with associated EVI-1 overexpression, and concurrent CSF3R and SETBP1 mutations.
ISSN:1792-1074
1792-1082
DOI:10.3892/ol.2015.3485