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

Altangerel,Otgonbat; Cao,Shannan; Meng,Juanxia; Liu,Peng; Haiyan,Gong; Xu,Yuanfu; Zhao,Mingfeng

doi:10.3892/ol.2015.3485

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

Authors:
- Otgonbat Altangerel
- Shannan Cao
- Juanxia Meng
- Peng Liu
- Gong Haiyan
- Yuanfu Xu
- Mingfeng Zhao
View Affiliations

Affiliations: Department of Hematology, Tianjin First Central Hospital, First Central Clinical College of Tianjin Medical University, Tianjin 300192, P.R. China, State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, P.R. China
Published online on: July 13, 2015 https://doi.org/10.3892/ol.2015.3485
Pages: 1694-1700

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

Abstract

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.

View Figures

View References

1	Bain BJ, Brunning BR, Vardiman JW and Thiele J: Chronic neutrophilic leukaemiaWHO Classification of Tumors of Haematopoietic and Lymphoid Tissues. IARC Press; Lyon, France: pp. 38–39. 2008
2	Böhm J and Schaefer HE: Chronic neutrophilic leukaemia: 14 new cases of an uncommon myeloproliferative disease. J Clin Pathol. 55:862–864. 2002. View Article : Google Scholar : PubMed/NCBI
3	Elliott MA: Chronic neutrophilic leukemia and chronic myelomonocytic leukemia: WHO defined. Best Pract Res Clin Haematol. 19:571–593. 2006. View Article : Google Scholar : PubMed/NCBI
4	Beekman R and Touw IP: G-CSF and its receptor in myeloid malignancy. Blood. 115:5131–5136. 2010. View Article : Google Scholar : PubMed/NCBI
5	Dong F, van Buitenen C, Pouwels K, et al: Distinct cytoplasmic regions of the human granulocyte colony-stimulating factor receptor involved in induction of proliferation and maturation. Mol Cell Biol. 13:7774–7781. 1993.PubMed/NCBI
6	Maxson JE, Gotlib J, Pollyea DA, Fleischman AG, Agarwal A, Eide CA, et al: Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. N Engl J Med. 368:1781–1790. 2013. View Article : Google Scholar : PubMed/NCBI
7	Gotlib J, Maxson JE, George TI and Tyner JW: The new genetics of chronic neutrophilic leukemia and atypical CML: Implications for diagnosis and treatment. Blood. 122:1707–1711. 2013. View Article : Google Scholar : PubMed/NCBI
8	Goyama S and Kurokawa M: Pathogenetic significance of ecotropic viral integration site-1 in hematological malignancies. Cancer Sci. 100:990–995. 2009. View Article : Google Scholar : PubMed/NCBI
9	Piazza R, Valletta S, Winkelmann N, Redaelli S, Spinelli R, Pirola A, et al: Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. Nat Genet. 45:18–24. 2013. View Article : Google Scholar : PubMed/NCBI
10	Pardanani A, Lasho TL, Laborde RR, Elliott M, Hanson CA, Knudson RA, et al: CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. Leukemia. 27:1870–1873. 2013. View Article : Google Scholar : PubMed/NCBI
11	Vardiman J and Hyjek E: World Health Organization classification, evaluation, and genetics of the myeloproliferative neoplasm variants. Hematology Am Soc Hematol Educ Program. 1:250–256. 2011. View Article : Google Scholar
12	Tuohy E: A case of splenomegaly with polymorphonuclear neutrophil hyperleukocytosios. Am J Med Sci. 160:18–24. 1920. View Article : Google Scholar
13	Böhm J, Kock S, Schaefer HE and Fisch P: Evidence of clonality in chronic neutrophilic leukaemia. J Clin Pathol. 56:292–295. 2003. View Article : Google Scholar : PubMed/NCBI
14	Reilly JT: Chronic neutrophilic leukaemia: A distinct clinical entity? Br J Haematol. 116:10–18. 2002. View Article : Google Scholar : PubMed/NCBI
15	Elliott MA and Tefferi A: The molecular genetics of chronic neutrophilic leukaemia: Defining a new era in diagnosis and therapy. Curr Opin Hematol. 21:148–154. 2014. View Article : Google Scholar : PubMed/NCBI
16	Morishita K, Parker DS, Mucenski ML, Jenkins NA, Copeland NG and Ihle JN: Retroviral activation of a novel gene encoding a zinc finger protein in IL-3-dependent myeloid leukemia cell lines. Cell. 54:831–840. 1988. View Article : Google Scholar : PubMed/NCBI
17	Ogawa S, Kurokawa M, Tanaka T, Tanaka K, Hangaishi A, Mitani K, et al: Increased EVI-1 expression is frequently observed in blastic crisis of chronic myelocytic leukemia. Leukemia. 10:788–794. 1996.PubMed/NCBI
18	Lasho TL, Mims A, Elliott MA, Finke C, Pardanani A and Tefferi A: 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. Leukemia. 28:1363–1365. 2014. View Article : Google Scholar : PubMed/NCBI