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

被引：3

作者：

Altangerel, Otgonbat ^{[1
,2
]}

Cao, Shannan ^{[3
,4
]}

Meng, Juanxia ^{[1
]}

Liu, Peng ^{[3
,4
]}

Gong Haiyan ^{[3
,4
]}

Xu, Yuanfu ^{[3
,4
]}

Zhao, Mingfeng ^{[1
]}

机构：

[1] Tianjin Med Univ, Cent Clin Coll 1, Tianjin Cent Hosp 1, Dept Hematol, Tianjin 300192, Peoples R China

[2] Mongolian Natl Univ Med Sci, Div Hematol, Dept Internal Med, Ulaanbaatar 14210, Mongolia

[3] Chinese Acad Med Sci, Inst Hematol & Blood Dis Hosp, State Key Lab Expt Hematol, Tianjin 300020, Peoples R China

[4] Peking Union Med Coll, Tianjin 300020, Peoples R China

来源：

ONCOLOGY LETTERS | 2015年 / 10卷 / 03期

关键词：

chronic neutrophilic leukemia; colony stimulating factor 3 receptor mutation; SET binding receptor mutation; ecotropic viral integration site-1; GENETICS; CLONALITY; DIAGNOSIS; RECEPTOR;

D O I：

10.3892/ol.2015.3485

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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, similar to 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.

引用

页码：1694 / 1700

页数：7

共 18 条

[1] Bain BJ, 2008, WHO CLASSIFICATION T, P38
[2] G-CSF and its receptor in myeloid malignancy
Beekman, Renee
Touw, Ivo P.
[J]. BLOOD, 2010, 115 (25) : 5131 - 5136
[3] Evidence of clonality in chronic neutrophilic leukaemia
Böhm, J
Kock, S
Schaefer, HE
Fisch, P
[J]. JOURNAL OF CLINICAL PATHOLOGY, 2003, 56 (04) : 292 - 295
[4] Chronic neutrophilic leukaemia:: 14 new cases of an uncommon myeloproliferative disease
Böhm, J
Schaefer, HE
[J]. JOURNAL OF CLINICAL PATHOLOGY, 2002, 55 (11) : 862 - 864
[5] DISTINCT CYTOPLASMIC REGIONS OF THE HUMAN GRANULOCYTE-COLONY-STIMULATING FACTOR-RECEPTOR INVOLVED IN INDUCTION OF PROLIFERATION AND MATURATION
DONG, F
VANBUITENEN, C
POUWELS, K
HOEFSLOOT, LH
LOWENBERG, B
TOUW, IP
[J]. MOLECULAR AND CELLULAR BIOLOGY, 1993, 13 (12) : 7774 - 7781
[6] Chronic neutrophilic leukemia and chronic myelomonocytic leukemia: WHO defined
Elliot, Michelle A.
[J]. BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY, 2006, 19 (03) : 571 - 593
[7] The molecular genetics of chronic neutrophilic leukaemia: defining a new era in diagnosis and therapy
Elliott, Michelle A.
Tefferi, Ayalew
[J]. CURRENT OPINION IN HEMATOLOGY, 2014, 21 (02) : 148 - 154
[8] The new genetics of chronic neutrophilic leukemia and atypical CML: implications for diagnosis and treatment
Gotlib, Jason
Maxson, Julia E.
George, Tracy I.
Tyner, Jeffrey W.
[J]. BLOOD, 2013, 122 (10) : 1707 - 1711
[9] Pathogenetic significance of ecotropic viral integration site-1 in hematological malignancies
Goyama, Susumu
Kurokawa, Mineo
[J]. CANCER SCIENCE, 2009, 100 (06) : 990 - 995
[10] Chronic neutrophilic leukemia with concurrent CSF3R and SETBP1 mutations: single colony clonality studies, in vitro sensitivity to JAK inhibitors and lack of treatment response to ruxolitinib
Lasho, T. L.
Mims, A.
Elliott, M. A.
Finke, C.
Pardanani, A.
Tefferi, A.
[J]. LEUKEMIA, 2014, 28 (06) : 1363 - 1365

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