Chronic neutrophilic leukemia pathophysiology
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Homa Najafi, M.D.[2]; Grammar Reviewer: Natalie Harpenau, B.S.[3]
Overview
The exact pathogenesis of Chronic neutrophilic leukemia (CNL) is not fully understood. Some cytogenic abnormalities like trisomy 7,8,9,21, deletion 11q, 20q6,7 may be seen in CNL patients. The mutation of CSF3R is seen in most patients. Moreover of mutation in CSF3R, there are some other genetic mutations which are less common.Polycythemia vera, plasma cell disorders and nephrotic syndrome can be associated with CNL.
Pathophysiology
Pathogenesis
- It is understood that clonality has a role in the pathogenesis of CNL. Cytogenetic abnormalities were seen in the diagnostic time or blast transformation in patients with CNL. Finding of these cytogenetic abnormalities were recommended that monoclonality involved in the pathogenesis of CNL.[1][2]
- The cytogenetic abnormalities may be seen in CNL patients are:[3][4][5][6][7][8][9]
- Specific ones:
- non-specific ones:
- The progression to CNL usually involves the CSF3R mutation. CSF3R encodes the receptor of CSF3 . It activates some pathways such as the Janus-associated kinase (JAK)/signal transducer and activator of transcription (STAT) pathway and so CSF3 acts as a neutrophilic growth factor. This mutation causes autonomous cell proliferation. CSF3RT618I and CSF3RT615A are the two types of membrane-proximal CSF3R mutations which are the most common ones. These two types activate the JAK2/STAT3 signaling pathway which is inhibited by Ruxolitinib. The other less common mutations such as truncation CSF3R mutations initiate SRC family tyrosine kinase nonreceptor 2 (TNK2 kinases) pathway and the inhibitor of this pathway is Dasatinib.[10][11][12][13][14][15]
Genetics
The development of CNL is the result of multiple genetic mutations such as:[16][3][15][17][18][19][20]
Associated Conditions
Conditions associated with CNL include:[21][22][23][24][25][26]
References
- ↑ Langabeer, S. E.; Haslam, K.; Kelly, J.; Quinn, J.; Morrell, R.; Conneally, E. (2017). "Targeted next-generation sequencing identifies clinically relevant mutations in patients with chronic neutrophilic leukemia at diagnosis and blast crisis". Clinical and Translational Oncology. 20 (3): 420–423. doi:10.1007/s12094-017-1722-2. ISSN 1699-048X.
- ↑ J. Bohm, S. Kock, H. E. Schaefer & P. Fisch (2003). "Evidence of clonality in chronic neutrophilic leukaemia". Journal of clinical pathology. 56 (4): 292–295. PMID 12663642. Unknown parameter
|month=ignored (help) - ↑ 3.0 3.1 Elliott, Michelle A.; Pardanani, Animesh; Hanson, Curtis A.; Lasho, Terra L.; Finke, Christy M.; Belachew, Alem A.; Tefferi, Ayalew (2015). "ASXL1mutations are frequent and prognostically detrimental inCSF3R-mutated chronic neutrophilic leukemia". American Journal of Hematology. 90 (7): 653–656. doi:10.1002/ajh.24031. ISSN 0361-8609.
- ↑ John T. Reilly (2002). "Chronic neutrophilic leukaemia: a distinct clinical entity?". British journal of haematology. 116 (1): 10–18. PMID 11841395. Unknown parameter
|month=ignored (help) - ↑ Piliotis, E.; Kutas, G.; Lipton, J.H. (2009). "Allogeneic Bone Marrow Transplantation in the Management of Chronic Neutrophilic Leukemia". Leukemia & Lymphoma. 43 (10): 2051–2054. doi:10.1080/1042819021000016087. ISSN 1042-8194.
- ↑ Elliott, M A; Hanson, C A; Dewald, G W; Smoley, S A; Lasho, T L; Tefferi, A (2004). "WHO-defined chronic neutrophilic leukemia: a long-term analysis of 12 cases and a critical review of the literature". Leukemia. 19 (2): 313–317. doi:10.1038/sj.leu.2403562. ISSN 0887-6924.
- ↑ Donato, Carlo Di; Croci, Gianfranco; Lazzari, Stefano; Scarduelli, Laura; Vignoli, Roberto; Buia, Marco; Tramaloni, Casimiro; Maccari, Sergio; Plancher, Angelo Cesare (1986). "Chronic Neutrophilic Leukemia: Description of a New Case with Karyotypic Abnormalities". American Journal of Clinical Pathology. 85 (3): 369–371. doi:10.1093/ajcp/85.3.369. ISSN 1943-7722.
- ↑ Michelle A. Elliott (2004). "Chronic neutrophilic leukemia: a contemporary review". Current hematology reports. 3 (3): 210–217. PMID 15087070. Unknown parameter
|month=ignored (help) - ↑ Donald P. Mc Lornan, Melanie J. Percy, Amy V. Jones, Nicholas C. P. Cross & Mary Frances Mc Mullin (2005). "Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase mutation". Haematologica. 90 (12): 1696–1697. PMID 16330446. Unknown parameter
|month=ignored (help) - ↑ Beekman, R.; Valkhof, M. G.; Sanders, M. A.; van Strien, P. M. H.; Haanstra, J. R.; Broeders, L.; Geertsma-Kleinekoort, W. M.; Veerman, A. J. P.; Valk, P. J. M.; Verhaak, R. G.; Lowenberg, B.; Touw, I. P. (2012). "Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia". Blood. 119 (22): 5071–5077. doi:10.1182/blood-2012-01-406116. ISSN 0006-4971.
- ↑ Dong, Fan; Brynes, Russell K.; Tidow, Nicola; Welte, Karl; Löwenberg, Bob; Touw, Ivo P. (1995). "Mutations in the Gene for the Granulocyte Colony-Stimulating–Factor Receptor in Patients with Acute Myeloid Leukemia Preceded by Severe Congenital Neutropenia". New England Journal of Medicine. 333 (8): 487–493. doi:10.1056/NEJM199508243330804. ISSN 0028-4793.
- ↑ Touw, Ivo P.; Palande, Karishma; Beekman, Renée (2013). "Granulocyte Colony-Stimulating Factor Receptor Signaling". Hematology/Oncology Clinics of North America. 27 (1): 61–73. doi:10.1016/j.hoc.2012.10.002. ISSN 0889-8588.
- ↑ S. J. Corey, A. L. Burkhardt, J. B. Bolen, R. L. Geahlen, L. S. Tkatch & D. J. Tweardy (1994). "Granulocyte colony-stimulating factor receptor signaling involves the formation of a three-component complex with Lyn and Syk protein-tyrosine kinases". Proceedings of the National Academy of Sciences of the United States of America. 91 (11): 4683–4687. PMID 8197119. Unknown parameter
|month=ignored (help) - ↑ Julia E. Maxson, Samuel B. Luty, Jason D. MacManiman, Jason C. Paik, Jason Gotlib, Peter Greenberg, Swaleh Bahamadi, Samantha L. Savage, Melissa L. Abel, Christopher A. Eide, Marc M. Loriaux, Emily A. Stevens & Jeffrey W. Tyner (2016). "The Colony-Stimulating Factor 3 Receptor T640N Mutation Is Oncogenic, Sensitive to JAK Inhibition, and Mimics T618I". Clinical cancer research : an official journal of the American Association for Cancer Research. 22 (3): 757–764. doi:10.1158/1078-0432.CCR-14-3100. PMID 26475333. Unknown parameter
|month=ignored (help) - ↑ 15.0 15.1 Maxson, Julia E.; Gotlib, Jason; Pollyea, Daniel A.; Fleischman, Angela G.; Agarwal, Anupriya; Eide, Christopher A.; Bottomly, Daniel; Wilmot, Beth; McWeeney, Shannon K.; Tognon, Cristina E.; Pond, J. Blake; Collins, Robert H.; Goueli, Basem; Oh, Stephen T.; Deininger, Michael W.; Chang, Bill H.; Loriaux, Marc M.; Druker, Brian J.; Tyner, Jeffrey W. (2013). "Oncogenic CSF3R Mutations in Chronic Neutrophilic Leukemia and Atypical CML". New England Journal of Medicine. 368 (19): 1781–1790. doi:10.1056/NEJMoa1214514. ISSN 0028-4793.
- ↑ Pardanani, A; Lasho, T L; Laborde, R R; Elliott, M; Hanson, C A; Knudson, R A; Ketterling, R P; Maxson, J E; Tyner, J W; Tefferi, A (2013). "CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia". Leukemia. 27 (9): 1870–1873. doi:10.1038/leu.2013.122. ISSN 0887-6924.
- ↑ Gotlib, J.; Maxson, J. E.; George, T. I.; Tyner, J. W. (2013). "The new genetics of chronic neutrophilic leukemia and atypical CML: implications for diagnosis and treatment". Blood. 122 (10): 1707–1711. doi:10.1182/blood-2013-05-500959. ISSN 0006-4971.
- ↑ Meggendorfer, M.; Haferlach, T.; Alpermann, T.; Jeromin, S.; Haferlach, C.; Kern, W.; Schnittger, S. (2014). "Specific molecular mutation patterns delineate chronic neutrophilic leukemia, atypical chronic myeloid leukemia, and chronic myelomonocytic leukemia". Haematologica. 99 (12): e244–e246. doi:10.3324/haematol.2014.113159. ISSN 0390-6078.
- ↑ Cui, Yajuan; Li, Bing; Gale, Robert Peter; Jiang, Qian; Xu, Zefeng; Qin, Tiejun; Zhang, Peihong; Zhang, Yue; Xiao, Zhijian (2014). "CSF3R, SETBP1 and CALR mutations in chronic neutrophilic leukemia". Journal of Hematology & Oncology. 7 (1). doi:10.1186/s13045-014-0077-1. ISSN 1756-8722.
- ↑ Dao, K.-H. T.; Tyner, J. W. (2015). "What's different about atypical CML and chronic neutrophilic leukemia?". Hematology. 2015 (1): 264–271. doi:10.1182/asheducation-2015.1.264. ISSN 1520-4391.
- ↑ Rending Wang, Hongyan Tong, Huiping Wang, Zhimin Chen, Lijun Wang & Jianghua Chen (2014). "Nephrotic syndrome related to chronic neutrophilic leukemia". Internal medicine (Tokyo, Japan). 53 (21): 2505–2509. PMID 25366011.
- ↑ Bain, Barbara J.; Ahmad, Shahzaib (2015). "Chronic neutrophilic leukaemia and plasma cell-related neutrophilic leukaemoid reactions". British Journal of Haematology. 171 (3): 400–410. doi:10.1111/bjh.13600. ISSN 0007-1048.
- ↑ Higuchi, Takakazu; Oba, Remi; Endo, Mitsue; Harada, Hiroshi; Mori, Hiraku; Niikura, Haruo; Omine, Mitsuhiro; Fujita, Kazuhiro (2009). "Transition of Polycythemia Vera to Chronic Neutrophilic Leukemia". Leukemia & Lymphoma. 33 (1–2): 203–206. doi:10.3109/10428199909093744. ISSN 1042-8194.
- ↑ Lee, Seung Soon; Moon, Joon Ho; Ha, Jun Wook; Lee, Young Kyung; Ahn, Jin Seok; Zang, Dae Young; Kim, Hyo Jung (2004). "A Case of Transition of Polycythemia Vera to Chronic Neutrophilic Leukemia". The Korean Journal of Internal Medicine. 19 (4): 285–288. doi:10.3904/kjim.2004.19.4.285. ISSN 1226-3303.
- ↑ Cehreli, Cavit; Undar, Bulent; Akkoc, Nurullah; Onvural, Banu; Altungoz, Oguz (1994). "Coexistence of Chronic Neutrophilic Leukemia with Light Chain Myeloma". Acta Haematologica. 91 (1): 32–34. doi:10.1159/000204241. ISSN 0001-5792.
- ↑ DinÇol, GünÇağ; NalÇacI, Meliha; Doğan, Öner; Aktan, Melih; KüÇükkaya, Reyhan; Ağan, Mehmet; DinÇol, Koray (2009). "Coexistence of Chronic Neutrophilic Leukemia with Multiple Myeloma". Leukemia & Lymphoma. 43 (3): 649–651. doi:10.1080/10428190290012218. ISSN 1042-8194.