I have reviewed this rare disorder recently, and I believe the references below provide some of the more important and valuable resources on chronic neutrophilic leukemia (CNL), right up to current date [2014].
The core basics of chronic neutrophilic leukemia (CNL) are provided in several papers that elucidate diagnosis, natural history, treatment and management [1-6]. In addition several case reports and reviews provide distillations of the medical literature to date of publication (latest, to 2013) [7-10].
MOLECULAR STUDIES
Another set of papers focuses on the genetics/genomics and underlying pathogenic pathways of CNL [11-18, 21-23], especially JAK2 gene mutation [12,13,15,16,18], several with extensive recent reviews of the literature [13,15]. In addition, given that distinguishing CNL from secondary neutrophilia is often a diagnostic dilemma, it's been suggested that the detection of the V617F JAK 2 mutation can function as a differential diagnostic test to establish the neoplastic nature of the neutrophilia [19], as well as render patients with CNL and JAK2 mutation potential candidates for molecular-targeted therapy [23], a while a just published [2014] study suggests that both JAK2 V617F-positive neutrophilia as well as CSF3R mutations should now be requisite diagnostic criteria for CNL [20]. And another recent study provides for the first time extensive molecular and expression data of multiple genomic alterations in CNL, far beyond just JAK2 and CSF3R mutations [22].
EXTRACTING FURTHER LITERATURE
The references are deliberately selected (those unavailable even in abstract form have been omitted), but should you want to extract a wider comprehensive listing, then enter the following as the search term in PUBMED
"chronic neutrophilic leukemia"[TIAB]
which should return some 174 results (inclusive of my own selective references).
REFERENCES
1. Telek B, Batár P, Udvardy M, László R. [Chronic neutrophilic leukemia: a long-term analysis of seven cases and review of the literature]. Orv Hetil 2006 May 7; 147(18):827-30.
2. Shen Wen-yi, Lu Hua, Zhang Jian-fu, et al. Chronic Neutrophilic Leukemia Occurred Mostly Like Pure Red Cell Aplasia: One Case Report and Literature Review. Chinese J Misdiagnostics 2007; 21.
3. Neureiter D, Kemmerling R, Ocker M, et al. Differential diagnostic challenge of chronic neutrophilic leukemia in a patient with prolonged leukocytosis. J Hematop. Jul 2008; 1(1): 23–27. Published online Apr 19, 2008.
5. Elbahrawy A, Hamdy M, Morsy MH, Ragab R. Chronic neutrophilic leukaemia: an Egyptian case. BMJ Case Rep 2009; 2009.
6. Goto H1, Hara T, Tsurumi H, Tanabashi S, Moriwaki H. Chronic neutrophilic leukemia with congenital Robertsonian translocation successfully treated with allogeneic bone marrow transplantation in a young man. Intern Med. 2009;48(7):563-7. Epub 2009 Apr 1.
7. Böhm J, Schaefer HE. Chronic neutrophilic leukaemia: 14 new cases of an uncommon myeloproliferative disease. J Clin Pathol 2002; 55(11):862-4.
8. Böhm J, Kock S, Schaefer HE, Fisch P. Evidence of clonality in chronic neutrophilic leukaemia. J Clin Pathol 2003; 56(4):292-5.
9. Krishnan Y, Sreedharan PS, Ramanan SG, Sagar TG. Chronic Neutrophilic Leukemia: A Case Report and Review of Literature. Indian J Medical Paedietric Oncol 2004; 25(4).
10. Ziai J, Torres R, Tormey CA. Chronic Neutrophilic Leukemia: A Rare and Difficult Diagnosis of Exclusion. J Blood Disord Transfus 2010 1:102.
11. Böhm J, Kock S, Schaefer HE, Fisch P. Evidence of clonality in chronic neutrophilic leukaemia. J Clin Pathol 2003; 56(4):292-5.
12. Mc Lornan DP, Percy MJ, Jones AV, Cross NC, Mc Mullin MF: Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase mutation. Haematologica 2005;90:1696–1697.
13. Lea NC, Lim Z, Westwood NB, Arno MJ, Gaken J, Mohamedali A, Mufti GJ: Presence of JAK2 V617F tyrosine kinase mutation as a myeloid-lineage-specific mutation in chronic neutrophilic leukemia. Leukemia 2006;20:1324–1326.
14. Uemura Y, Taguchi T, Kubota T, Saito T, Bandobashi K, Yokoyama A. Neutrophil function and cytokine-specific signaling in chronic neutrophilic leukemia. Int J Lab Hematol 2009; 31(1):36-47.
suggest that deficiency of CNL neutrophil function might be due to insufficiency of some inflammatory cytokine-specific signaling.
15. Ortiz-Cruz K, Amog-Jones G, Salvatore JR. Chronic neutrophilic leukemia with JAK2 gene mutation. Commun Oncol 2012; 9 (4):127.
16. Gotlib J, Maxson JE, George TI, Tyner JW. The new genetics of chronic neutrophilic leukemia and atypical CML: implications for diagnosis and treatment. Blood 2013 Sep 5; 122(10):1707-11.
17. Chen Y, Wang S, Wang W. Deletion of chromosome 17 as a novel cytogenetic finding in chronic neutrophilic leukemia: A case report. Oncol Lett 2013; 5(5):1704-1706.
18. Elliott MA, Tefferi A. The molecular genetics of chronic neutrophilic leukaemia. Curr Opinion Hematol. 2014; 21(2):148.
19. Gajendra S, Gupta R, Chandgothia M, Kumar L, Gupta R, Chavan SM.
Chronic Neutrophilic Leukemia with V617F JAK2 Mutation. Indian J Hematol Blood Tranfus Oct 2012]
20. Erber WN, Reilly JT. Chronic neutrophilic leukemia with plasma cell dyscrasia: friends or relatives? Leuk Lymphoma 2014; 55(2):240-2.
21. Gotlib J, Maxson JE, George TI, Tyner JW. Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. N Engl J Med 2013 May 9; 368(19):1781-9.0
22. Menezes J, Makishima H, Gomez I, et al. CSF3R T618I co-occurs with mutations of splicing and epigenetic genes and with a new PIM3 truncated fusion gene in chronic neutrophilic leukemia. Blood Cancer J 2013; 3:e158.
23. Lea NC, Lim Z, Westwood NB, et al. Presence of JAK2 V617F tyrosine kinase mutation as a myeloid-lineage-specific mutation in chronic neutrophilic leukaemia. Leukemia 2006; 20(7):1324-6.