Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2016; 15: 41-45
Генетические предикторы неблагоприятного течения тяжелой врожденной нейтропении у пациентов с мутацией в гене ELANE
https://doi.org/10.24287/1726-1708-2016-15-1-41-45Аннотация
Список литературы
1. Dale DC. ELANE-related neutropenia [Internet]. University of Washington, Seattle (WA): Gene ReviewsTM: 2002. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1533/[updated 14 July 2011].
2. Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet. 1999; 23(4): 433-6.
3. Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. 2000; 96(7): 2317-22.
4. Dale DC, Bolyard AA, Aprikyan A. Cyclic neutropenia. Semin Hematol. 2002; 39(2): 89-94.
5. Welte K, Zeidler C, Dale DC. Severe congenital neutropenia. Semin Hematol. 2006; 43(3): 189-95.
6. Ancliff PJ, Gale RE, Liesner R, Hann IM, Linch DC. Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. Blood. 2001; 98(9): 2645-50.
7. Köllner I, Sodeik B, Schreek S, Heyn H, von Neuhoff N, Germeshausen M, et al. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Blood. 2006; 108(2): 493-500.
8. Grenda DS, Murakami M, Ghatak J, Xia J, Boxer LA, Dale D, et al. Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. Blood. 2007; 110(13): 4179-87.
9. Nanua S, Murakami M, Xia J, Grenda DS, Woloszynek J, Strand M, et al. Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane. Blood. 2011; 117(13): 3539-47.
10. Borregaard N. Severe congenital neutropenia: new lane for ELANE. Blood. 2014; 123(4): 462-3.
11. Dale DC, Cottle TE, Fier CJ, Bolyard AA, Bonilla MA, Boxer LA, et al. Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry. Am J Hematol. 2003; 72(2): 82-93.
12. Rosenberg PS, Zeidler C, Bolyard AA, Alter BP, Bonilla MA, Boxer LA, et al. Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. Br J Haematol. 2010; 150(2): 196-9.
13. Beekman R, Touw IP. G-CSF and its receptor in myeloid malignancy. Blood. 2010; 115(25): 5131-6.
14. Link DC, Kunter G, Kasai Y, Zhao Y, Miner T, McLellan MD, et al. Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. Blood. 2007; 110(5): 1648-55.
15. Skokowa J, Steinemann D, Katsman-Kuipers JE, Zeidler C, Klimenkova O, Klimiankou M, et al. Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis. Blood. 2014; 123(14): 2229-37.
16. Horwitz MS, Corey SJ, Grimes HL, Tidwell T. ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology. Hematol Oncol Clin North Am. 2013; 27(1): 19-41.
17. Germeshausen M, Deerberg S, Peter Y, Reimer C, Kratz CP, Ballmaier M. The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. Hum Mutat. 2013; 34(6): 905-14.
18. Bellanné-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, et al. Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. Blood. 2004; 103(11): 4119-25.
19. Makaryan V, Zeidler C, Bolyard AA, Skokowa J, Rodger E, Kelley ML, et al. The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. Curr Opin Hematol. 2015; 22(1): 3-11.
Pediatric Hematology/Oncology and Immunopathology. 2016; 15: 41-45
Genetic predictors of an unfavorable course of severe congenital neutropenia in patients with ELANE gene mutation
https://doi.org/10.24287/1726-1708-2016-15-1-41-45Abstract
References
1. Dale DC. ELANE-related neutropenia [Internet]. University of Washington, Seattle (WA): Gene ReviewsTM: 2002. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1533/[updated 14 July 2011].
2. Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet. 1999; 23(4): 433-6.
3. Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. 2000; 96(7): 2317-22.
4. Dale DC, Bolyard AA, Aprikyan A. Cyclic neutropenia. Semin Hematol. 2002; 39(2): 89-94.
5. Welte K, Zeidler C, Dale DC. Severe congenital neutropenia. Semin Hematol. 2006; 43(3): 189-95.
6. Ancliff PJ, Gale RE, Liesner R, Hann IM, Linch DC. Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. Blood. 2001; 98(9): 2645-50.
7. Köllner I, Sodeik B, Schreek S, Heyn H, von Neuhoff N, Germeshausen M, et al. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Blood. 2006; 108(2): 493-500.
8. Grenda DS, Murakami M, Ghatak J, Xia J, Boxer LA, Dale D, et al. Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. Blood. 2007; 110(13): 4179-87.
9. Nanua S, Murakami M, Xia J, Grenda DS, Woloszynek J, Strand M, et al. Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane. Blood. 2011; 117(13): 3539-47.
10. Borregaard N. Severe congenital neutropenia: new lane for ELANE. Blood. 2014; 123(4): 462-3.
11. Dale DC, Cottle TE, Fier CJ, Bolyard AA, Bonilla MA, Boxer LA, et al. Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry. Am J Hematol. 2003; 72(2): 82-93.
12. Rosenberg PS, Zeidler C, Bolyard AA, Alter BP, Bonilla MA, Boxer LA, et al. Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. Br J Haematol. 2010; 150(2): 196-9.
13. Beekman R, Touw IP. G-CSF and its receptor in myeloid malignancy. Blood. 2010; 115(25): 5131-6.
14. Link DC, Kunter G, Kasai Y, Zhao Y, Miner T, McLellan MD, et al. Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. Blood. 2007; 110(5): 1648-55.
15. Skokowa J, Steinemann D, Katsman-Kuipers JE, Zeidler C, Klimenkova O, Klimiankou M, et al. Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis. Blood. 2014; 123(14): 2229-37.
16. Horwitz MS, Corey SJ, Grimes HL, Tidwell T. ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology. Hematol Oncol Clin North Am. 2013; 27(1): 19-41.
17. Germeshausen M, Deerberg S, Peter Y, Reimer C, Kratz CP, Ballmaier M. The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. Hum Mutat. 2013; 34(6): 905-14.
18. Bellanné-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, et al. Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. Blood. 2004; 103(11): 4119-25.
19. Makaryan V, Zeidler C, Bolyard AA, Skokowa J, Rodger E, Kelley ML, et al. The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. Curr Opin Hematol. 2015; 22(1): 3-11.
