Skip to main content
Top
Published in: Journal of Hematology & Oncology 1/2014

Open Access 01-12-2014 | Letter to the Editor

CSF3R, SETBP1 and CALR mutations in chronic neutrophilic leukemia

Authors: Yajuan Cui, Bing Li, Robert Peter Gale, Qian Jiang, Zefeng Xu, Tiejun Qin, Peihong Zhang, Yue Zhang, Zhijian Xiao

Published in: Journal of Hematology & Oncology | Issue 1/2014

Login to get access

Abstract

The WHO 2008 definition of chronic neutrophilic leukemia (CNL) is based on clinical and laboratory parameters but not on molecular abnormalities. Mutations in CSF3R, SETBP1 and CALR are reported in patients with chronic neutrophilic leukemia (CNL). However, because CNL is rare, there are few large studies of this issue. We sequenced these genes in 14 patients who met the WHO-criteria of CNL. 8 subjects had CSF3R T618I , 6 SETBP1 mutations and 1 a CALR mutation. Our data suggest mutation analysis of CSF3R, SETBP1 and CALR should be included in the diagnostic criteria for CNL. These data may also have therapy implications.
Literature
1.
go back to reference Bain BJ, Brunning RD, Vardiman JW, Thiele J: Chronic neutrophilic leukemia. WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues. Edited by: Swerdlow SH, Campo E, Lee Harris N. 2008, IARC Press, Lyon, France, 38-39. Bain BJ, Brunning RD, Vardiman JW, Thiele J: Chronic neutrophilic leukemia. WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues. Edited by: Swerdlow SH, Campo E, Lee Harris N. 2008, IARC Press, Lyon, France, 38-39.
2.
go back to reference Maxson JE, Gotlib J, Pollyea DA, Fleischman AG, Agarwal A, Eide CA, Bottomly D, Wilmot B, McWeeney SK, Tognon CE, Pond JB, Collins RH, Goueli B, Oh ST, Deininger MW, Chang BH, Loriaux MM, Druker BJ, Tyner JW: Oncogenic csf3r mutations in chronic neutrophilic leukemia and atypical cml. N Engl J Med. 2013, 368 (19): 1781-1790. 10.1056/NEJMoa1214514.PubMedCentralCrossRefPubMed Maxson JE, Gotlib J, Pollyea DA, Fleischman AG, Agarwal A, Eide CA, Bottomly D, Wilmot B, McWeeney SK, Tognon CE, Pond JB, Collins RH, Goueli B, Oh ST, Deininger MW, Chang BH, Loriaux MM, Druker BJ, Tyner JW: Oncogenic csf3r mutations in chronic neutrophilic leukemia and atypical cml. N Engl J Med. 2013, 368 (19): 1781-1790. 10.1056/NEJMoa1214514.PubMedCentralCrossRefPubMed
3.
go back to reference Pardanani A, Lasho TL, Laborde RR, Elliott M, Hanson CA, Knudson RA, Ketterling RP, Maxson JE, Tyner JW, Tefferi A: CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. Leukemia. 2013, 27 (9): 1870-1873. 10.1038/leu.2013.122.PubMedCentralCrossRefPubMed Pardanani A, Lasho TL, Laborde RR, Elliott M, Hanson CA, Knudson RA, Ketterling RP, Maxson JE, Tyner JW, Tefferi A: CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. Leukemia. 2013, 27 (9): 1870-1873. 10.1038/leu.2013.122.PubMedCentralCrossRefPubMed
4.
go back to reference Lasho TL, Elliott MA, Pardanani A, Tefferi A: CALR mutation studies in chronic neutrophilic leukemia. Am J Hematol. 2014, 89 (4): 450-10.1002/ajh.23665.CrossRefPubMed Lasho TL, Elliott MA, Pardanani A, Tefferi A: CALR mutation studies in chronic neutrophilic leukemia. Am J Hematol. 2014, 89 (4): 450-10.1002/ajh.23665.CrossRefPubMed
5.
go back to reference Li B, Xu J, Wang J, Gale RP, Xu Z, Cui Y, Yang L, Xing R, Ai X, Qin T, Zhang Y, Zhang P, Xiao Z: Calreticulin mutations in chinese with primary myelofibrosis. Haematologica. 2014, [Epub ahead of print] Li B, Xu J, Wang J, Gale RP, Xu Z, Cui Y, Yang L, Xing R, Ai X, Qin T, Zhang Y, Zhang P, Xiao Z: Calreticulin mutations in chinese with primary myelofibrosis. Haematologica. 2014, [Epub ahead of print]
6.
go back to reference Tefferi A, Thiele J, Vannucchi AM, Barbui T: An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms. Leukemia. 2014, 28 (7): 1407-1413. 10.1038/leu.2014.35.CrossRefPubMed Tefferi A, Thiele J, Vannucchi AM, Barbui T: An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms. Leukemia. 2014, 28 (7): 1407-1413. 10.1038/leu.2014.35.CrossRefPubMed
7.
go back to reference 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, 122 (10): 1707-1711. 10.1182/blood-2013-05-500959.PubMedCentralCrossRefPubMed 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, 122 (10): 1707-1711. 10.1182/blood-2013-05-500959.PubMedCentralCrossRefPubMed
8.
go back to reference Elliott MA, Dewald GW, Tefferi A, Hanson CA: Chronic neutrophilic leukemia (CNL): a clinical, pathologic and cytogenetic study. Leukemia. 2001, 15 (1): 35-40. 10.1038/sj.leu.2401993.CrossRefPubMed Elliott MA, Dewald GW, Tefferi A, Hanson CA: Chronic neutrophilic leukemia (CNL): a clinical, pathologic and cytogenetic study. Leukemia. 2001, 15 (1): 35-40. 10.1038/sj.leu.2401993.CrossRefPubMed
9.
go back to reference Nicholson SE, Oates AC, Harpur AG, Ziemiecki A, Wilks AF, Layton JE: Tyrosine kinase JAK1 is associated with the granulocyte-colony-stimulating factor receptor and both become tyrosine-phosphorylated after receptor activation. Proc Natl Acad Sci U S A. 1994, 91 (8): 2985-2988. 10.1073/pnas.91.8.2985.PubMedCentralCrossRefPubMed Nicholson SE, Oates AC, Harpur AG, Ziemiecki A, Wilks AF, Layton JE: Tyrosine kinase JAK1 is associated with the granulocyte-colony-stimulating factor receptor and both become tyrosine-phosphorylated after receptor activation. Proc Natl Acad Sci U S A. 1994, 91 (8): 2985-2988. 10.1073/pnas.91.8.2985.PubMedCentralCrossRefPubMed
10.
go back to reference Corey SJ, Burkhardt AL, Bolen JB, Geahlen RL, Tkatch LS, Tweardy DJ: Granulocyte colony-stimulating factor receptor signaling involves the formation of a three-component complex with Lyn and Syk protein-tyrosine kinases. Proc Natl Acad Sci U S A. 1994, 91 (11): 4683-4687. 10.1073/pnas.91.11.4683.PubMedCentralCrossRefPubMed Corey SJ, Burkhardt AL, Bolen JB, Geahlen RL, Tkatch LS, Tweardy DJ: Granulocyte colony-stimulating factor receptor signaling involves the formation of a three-component complex with Lyn and Syk protein-tyrosine kinases. Proc Natl Acad Sci U S A. 1994, 91 (11): 4683-4687. 10.1073/pnas.91.11.4683.PubMedCentralCrossRefPubMed
11.
go back to reference Fleischman AG, Maxson JE, Luty SB, Agarwal A, Royer LR, Abel ML, MacManiman JD, Loriaux MM, Druker BJ, Tyner JW: The CSF3R T618I mutation causes a lethal neutrophilic neoplasia in mice that is responsive to therapeutic JAK inhibition. Blood. 2013, 122 (22): 3628-3631. 10.1182/blood-2013-06-509976.PubMedCentralCrossRefPubMed Fleischman AG, Maxson JE, Luty SB, Agarwal A, Royer LR, Abel ML, MacManiman JD, Loriaux MM, Druker BJ, Tyner JW: The CSF3R T618I mutation causes a lethal neutrophilic neoplasia in mice that is responsive to therapeutic JAK inhibition. Blood. 2013, 122 (22): 3628-3631. 10.1182/blood-2013-06-509976.PubMedCentralCrossRefPubMed
12.
go back to reference Lasho TL, Mims A, Elliott MA, Finke C, Pardanani A, 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. 2014, 28 (6): 1363-1365. 10.1038/leu.2014.39.CrossRefPubMed Lasho TL, Mims A, Elliott MA, Finke C, Pardanani A, 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. 2014, 28 (6): 1363-1365. 10.1038/leu.2014.39.CrossRefPubMed
Metadata
Title
CSF3R, SETBP1 and CALR mutations in chronic neutrophilic leukemia
Authors
Yajuan Cui
Bing Li
Robert Peter Gale
Qian Jiang
Zefeng Xu
Tiejun Qin
Peihong Zhang
Yue Zhang
Zhijian Xiao
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Journal of Hematology & Oncology / Issue 1/2014
Electronic ISSN: 1756-8722
DOI
https://doi.org/10.1186/s13045-014-0077-1

Other articles of this Issue 1/2014

Journal of Hematology & Oncology 1/2014 Go to the issue
Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine