<i>CSF3R</i>、<i>ZRSR2</i>基因突變陽性慢性中性粒細胞白血病修正為非典型慢性粒細胞白血病一例_West China Medical Journal

Authors：

鄒忠晴 ^1,2 , 潘崚 ¹ , 張麗 ¹ , 饒進 ² , 林志美 ² , 余曉玲 ² , 張在鵬 ² , 李亞容 ²

1. ;
2. ;

Corresponding?author：

潘崚, Email:

Keywords：

CSF3R突變; ZRSR2突變; 慢性中性粒細胞白血病; 非典型慢性粒細胞白血病

DOI：

10.7507/1002-0179.201903150

Video：

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Citation： 鄒忠晴, 潘崚, 張麗, 饒進, 林志美, 余曉玲, 張在鵬, 李亞容. CSF3R、ZRSR2基因突變陽性慢性中性粒細胞白血病修正為非典型慢性粒細胞白血病一例. West China Medical Journal, 2019, 34(4): 461-464. doi: 10.7507/1002-0179.201903150 Copy

1.	Vardiman JW, Thiele J, Arber DA, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood, 2009, 114(5): 937-951.
2.	肖志堅. 骨髓增生異常綜合征/骨髓增殖性腫瘤的診斷和治療. 中國實用內科雜志, 2018, 38(2): 93-97.
3.	Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood, 2016, 127(20): 2391-2405.
4.	Beekman R, Touw IP. G-CSF and its receptor in myeloid malignancy. Blood, 2010, 115(25): 5131-5136.
5.	Liu F, Wu HY, Wesselschmidt R, et al. Impaired production and increased apoptosis of neutrophils in granulocyte colony-stimulating factor receptor-deficient mice. Immunity, 1996, 5(5): 491-501.
6.	Pardanani A, Lasho TL, Laborde RR, et al. CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. Leukemia, 2013, 27(9): 1870-1873.
7.	Gotlib J, Maxson JE, George TI, et al. The new genetics of chronic neutrophilic leukemia and atypical CML: implications for diagnosis and treatment. Blood, 2013, 122(10): 1707-1711.
8.	Barbui T, Thiele J, Gisslinger H, et al. The 2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms: document summary and in-depth discussion. Blood cancer J, 2018, 8(2): 15.
9.	Piazza R, Valletta S, Winkelmann N, et al. Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. Nat Genet, 2013, 45(1): 18-24.
10.	Maxson JE, Gotlib J, Pollyea DA, et al. Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. N Engl J Med, 2013, 368(19): 1781-1790.
11.	Wang SA, Hasserjian RP, Fox PS, et al. Atypical chronic myeloid leukemia is clinically distinct from unclassifiable myelodysplastic / myeloproliferative neoplasms. Blood, 2014, 123(17): 2645-2651.
12.	Patnaik MM, Barraco D, Lasho TL, et al. Targeted next generation sequencing and identification of risk factors in World Health Organization defined atypical chronic myeloid leukemia. Am J Hematol, 2017, 92(6): 542-548.
13.	Greenberg PL, Stone RM, Al-Kali A, et al. Myelodysplastic Syndromes, Version 2.2017, NCCN Clinical Practice Guidelines in Oncology. J NatI Compr Canc Netw, 2017, 15(1): 60-87.
14.	Faisal M, Stark H, Büsche G, et al. Comprehensive mutation profiling and mRNA expression analysis in atypical chronic myeloid leukemia in comparison with chronic myelomonocytic leukemia. Cancer med, 2019, 8(2): 742-750.
15.	Koldehoff M, Beelen DW, Trenschel R, et al. Outcome of hematopoietic stem cell transplantation in patients with atypical chronic myeloid leukemia. Bone marrow transplant, 2004, 34(12): 1047-1050.
16.	Jiang H, Wu Z, Ren LI, et al. Decitabine for the treatment of atypical chronic myeloid leukemia: a report of two cases. Oncol Lett, 2016, 11(1): 689-692.
17.	Hausmann H, Bhatt VR, Yuan J, et al. Activity of single-agent decitabine in atypical chronic myeloid leukemia. J Oncol Pharm Pract, 2016, 22(6): 790-794.
18.	Menezes J, Cigudosa JC. Chronic neutrophilic leukemia: a clinical perspective. OncoTargets Ther, 2015, 8: 2383-2390.
19.	Dhakal P, Gundabolu K, Amador C, et al. Atypical chronic myeloid leukemia: a rare entity with management challenges. Future Oncol, 2018, 14(2): 177-185.
20.	Giri S, Pathak R, Martin MG, et al. Characteristics and survival of BCR/ABL negative chronic myeloid leukemia: a retrospective analysis of the Surveillance, Epidemiology and End Results database. Ther Adv Hematol, 2015, 6(6): 308-312.
21.	Breccia M, Biondo F, Latagliata R, et al. Identification of risk factors in atypical chronic myeloid leukemia. Haematologica, 2006, 91(11): 1566-1568.
22.	Broséus J, Alpermann T, Wulfert M, et al. Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. Leukemia, 2013, 27(9): 1826-1831.
23.	Cannella L, Breccia M, Latagliata R, et al. Clinical and prognostic features of patients with myelodysplastic/myeloproliferative syndrome categorized as unclassified (MDS/MPD-U) by WHO classification. Leuk Res, 2008, 32(3): 514-516.
24.	Hernández JM, del Ca?izo MC, Cuneo A, et al. Clinical, hematological and cytogenetic characteristics of atypical chronic myeloid leukemia. Ann Oncol, 2000, 11(4): 441-444.

1. Vardiman JW, Thiele J, Arber DA, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood, 2009, 114(5): 937-951.
2. 肖志堅. 骨髓增生異常綜合征/骨髓增殖性腫瘤的診斷和治療. 中國實用內科雜志, 2018, 38(2): 93-97.
3. Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood, 2016, 127(20): 2391-2405.
4. Beekman R, Touw IP. G-CSF and its receptor in myeloid malignancy. Blood, 2010, 115(25): 5131-5136.
5. Liu F, Wu HY, Wesselschmidt R, et al. Impaired production and increased apoptosis of neutrophils in granulocyte colony-stimulating factor receptor-deficient mice. Immunity, 1996, 5(5): 491-501.
6. Pardanani A, Lasho TL, Laborde RR, et al. CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. Leukemia, 2013, 27(9): 1870-1873.
7. Gotlib J, Maxson JE, George TI, et al. The new genetics of chronic neutrophilic leukemia and atypical CML: implications for diagnosis and treatment. Blood, 2013, 122(10): 1707-1711.
8. Barbui T, Thiele J, Gisslinger H, et al. The 2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms: document summary and in-depth discussion. Blood cancer J, 2018, 8(2): 15.
9. Piazza R, Valletta S, Winkelmann N, et al. Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. Nat Genet, 2013, 45(1): 18-24.
10. Maxson JE, Gotlib J, Pollyea DA, et al. Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. N Engl J Med, 2013, 368(19): 1781-1790.
11. Wang SA, Hasserjian RP, Fox PS, et al. Atypical chronic myeloid leukemia is clinically distinct from unclassifiable myelodysplastic / myeloproliferative neoplasms. Blood, 2014, 123(17): 2645-2651.
12. Patnaik MM, Barraco D, Lasho TL, et al. Targeted next generation sequencing and identification of risk factors in World Health Organization defined atypical chronic myeloid leukemia. Am J Hematol, 2017, 92(6): 542-548.
13. Greenberg PL, Stone RM, Al-Kali A, et al. Myelodysplastic Syndromes, Version 2.2017, NCCN Clinical Practice Guidelines in Oncology. J NatI Compr Canc Netw, 2017, 15(1): 60-87.
14. Faisal M, Stark H, Büsche G, et al. Comprehensive mutation profiling and mRNA expression analysis in atypical chronic myeloid leukemia in comparison with chronic myelomonocytic leukemia. Cancer med, 2019, 8(2): 742-750.
15. Koldehoff M, Beelen DW, Trenschel R, et al. Outcome of hematopoietic stem cell transplantation in patients with atypical chronic myeloid leukemia. Bone marrow transplant, 2004, 34(12): 1047-1050.
16. Jiang H, Wu Z, Ren LI, et al. Decitabine for the treatment of atypical chronic myeloid leukemia: a report of two cases. Oncol Lett, 2016, 11(1): 689-692.
17. Hausmann H, Bhatt VR, Yuan J, et al. Activity of single-agent decitabine in atypical chronic myeloid leukemia. J Oncol Pharm Pract, 2016, 22(6): 790-794.
18. Menezes J, Cigudosa JC. Chronic neutrophilic leukemia: a clinical perspective. OncoTargets Ther, 2015, 8: 2383-2390.
19. Dhakal P, Gundabolu K, Amador C, et al. Atypical chronic myeloid leukemia: a rare entity with management challenges. Future Oncol, 2018, 14(2): 177-185.
20. Giri S, Pathak R, Martin MG, et al. Characteristics and survival of BCR/ABL negative chronic myeloid leukemia: a retrospective analysis of the Surveillance, Epidemiology and End Results database. Ther Adv Hematol, 2015, 6(6): 308-312.
21. Breccia M, Biondo F, Latagliata R, et al. Identification of risk factors in atypical chronic myeloid leukemia. Haematologica, 2006, 91(11): 1566-1568.
22. Broséus J, Alpermann T, Wulfert M, et al. Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. Leukemia, 2013, 27(9): 1826-1831.
23. Cannella L, Breccia M, Latagliata R, et al. Clinical and prognostic features of patients with myelodysplastic/myeloproliferative syndrome categorized as unclassified (MDS/MPD-U) by WHO classification. Leuk Res, 2008, 32(3): 514-516.
24. Hernández JM, del Ca?izo MC, Cuneo A, et al. Clinical, hematological and cytogenetic characteristics of atypical chronic myeloid leukemia. Ann Oncol, 2000, 11(4): 441-444.

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West China Medical Journal

CSF3R、ZRSR2基因突變陽性慢性中性粒細胞白血病修正為非典型慢性粒細胞白血病一例

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