Хронический нейтрофильный лейкоз и атипичный хронический миелолейкоз

Автор: Шуваев В.А., Мартынкевич И.С., Кустова Д.В., Байков В.В., Криволапов Ю.А., Белякова Е.А., Барам Д.В.

Журнал: Вестник гематологии @bulletin-of-hematology

Статья в выпуске: 2 т.19, 2023 года.

Бесплатный доступ

Хронический нейтрофильный лейкоз и атипичный хронический миелоидный лейкоз – редкие ми- елопролиферативные новообразования, встречающиеся преимущественно у лиц пожилого возраста и характеризующиеся постоянным нейтрофильным лейкоцитозом, гиперклеточным костным мозгом и гепатоспленомегалией. Симптомы и клинико-лабораторные проявления хронического нейтрофильного лейкоза и атипичного хронического миелолейкоза практически неотличимы от хронического миелоидного лейкоза, а прогноз также схож в эру до внедрения таргетной терапии. В последние годы достигнуты существенные успехи в расшифровке молекулярно-генетических основ патогенеза этих заболеваний. Внедрены молекулярно-генетические критерии диагностики, разработаны подходы к использованию таргетных препаратов. В статье при- ведены современные представления о диагностике и лечении хронического нейтрофильного лейкоза и атипичного хронического миелолейкоза. Также представлено клиническое наблюдение атипичного хронического миелолейкоза.

Еще

Хронический нейтрофильный лейкоз, атипичный хронический миелолейкоз, молекулярно-генетическая диагностика, таргетная терапия, руксолитиниб

Короткий адрес: https://sciup.org/170199858

IDR: 170199858

Список литературы Хронический нейтрофильный лейкоз и атипичный хронический миелолейкоз

Szuber, N., Elliott, M., Tefferi, A. Chronic neutrophilic leukemia: 2020 update on diagnosis, molecular genetics, prognosis, and management // Am J Hematol. – 2020. – Vol. 95, №2. – P. 212-224.
Szuber, N., Elliott, M., Tefferi, A. Chronic neutrophilic leukemia: 2022 update on diagnosis, genomic landscape, prognosis, and management // Am J Hematol. – 2022. – Vol. 97, №4. – P. 491-505.
Atypical Chronic Myeloid Leukemia: Where Are We Now? / E. Crisà, M. Nicolosi, V. Ferri et al. // International Journal of Molecular Sciences. – 2020. – Vol. 21, №18. – P. 6862.
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia / D.A. Arber, A. Orazi, R. Hasserjian et al. // Blood. – 2016. – Vol. 127, №20. – P. 2391-2405.
Epidemiology of myelodysplastic syndromes and chronic myeloproliferative disorders in the United States, 2001-2004, using data from the NAACCR and SEER programs / D.E. Rollison, N. Howlader, M.T. Smith et al. // Blood. – 2008. – Vol. 112, №1. – P. 45-52.
Germeshausen, M., Ballmaier, M., Welte, K. Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey // Blood. – 2006. – Vol. 109, №1. – P. 93-99.
An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia / I. Plo, Y. Zhang, J.-P. Le Couédic et al. // The Journal of Experimental Medicine. – 2009. – Vol. 206, №8. – P. 1701-1707.
Beekman, R., Touw, I.P. G-CSF and its receptor in myeloid malignancy / R. Beekman, I.P. Touw // Blood. – 2010. – Vol. 115, №25. – P. 5131-5136.
Impaired Production and Increased Apoptosis of Neutrophils in Granulocyte Colony-Stimulating Factor Receptor–Deficient Mice / F. Liu, H.Y. Wu, R. Wesselschmidt et al. // Immunity. – 1996. – Vol. 5, №5. – P. 491-501.
Mutations in the Gene for the Granulocyte Colony-Stimulating–Factor Receptor in Patients with Acute Myeloid Leukemia Preceded by Severe Congenital Neutropenia / F. Dong, R.K. Brynes, N. Tidow et al. // New England Journal of Medicine. – 1995. – Vol. 333, №8. – P. 487-493.
Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia / F. Dong, L.H. Hoefsloot, A.M. Schelen et al. // Proceedings of the National Academy of Sciences of the United States of America. – 1994. – Vol. 91, №10. – P. 4480-4484.
Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia / R. Beekman, M.G. Valkhof, M.A. Sanders et al. // Blood. – 2012. – Vol. 119, №22. – P. 5071-5077.
The Carboxyl Terminus of the Granulocyte Colony- Stimulating Factor Receptor, Truncated in Patients with Severe Congenital Neutropenia/Acute Myeloid Leukemia, Is Required for SH2-Containing Phosphatase-1 Suppression of Stat Activation / F. Dong, Y. Qiu, T. Yi et al. // The Journal of Immunology. – 2001. – Vol. 167, №11. – P. 6447-6452.
G-CSF receptor truncations found in SCN/AML relieve SOCS3-controlled inhibition of STAT5 but leave suppression of STAT3 intact / G.-J.M. Van De Geijn, J. Gits, L.H.J. Aarts et al. // Blood. – 2004. – Vol. 104, №3. – P. 667-674.
Defective Internalization and Sustained Activation of Truncated Granulocyte Colony-Stimulating Factor Receptor Found in Severe Congenital Neutropenia/Acute Myeloid Leukemia / A.C. Ward, Y.M. Van Aesch, A.M. Schelen, I.P. Touw // Blood. – 1999. – Vol. 93, №2. – P. 447-458.
Perturbed Granulopoiesis in Mice With a Targeted Mutation in the Granulocyte Colony-Stimulating Factor Receptor Gene Associated With Severe Chronic Neutropenia / M.H.A. Hermans, A.C. Ward, C. Antonissen et al. // Blood. – 1998. – Vol. 92, №1. – P. 32-39.
Hunter, M.G., Avalos, B.R. Granulocyte colony-stimulating factor receptor mutations in severe congenital neutropenia transforming to acute myelogenous leukemia confer resistance to apoptosis and enhance cell survival // Blood. – 2000. – Vol. 95, №6. – P. 2132-2137.
Impaired neutrophil maturation in truncated murine G-CSF receptor–transgenic mice / T. Mitsui, S. Watanabe, Y. Taniguchi et al. // Blood. – 2003. – Vol. 101, №8. – P. 2990-2995.
Requirement of Src Kinase Lyn for Induction of DNA Synthesis by Granulocyte Colony-stimulating Factor / S.J. Corey, P.M. Dombrosky-Ferlan, S. Zuo et al. // Journal of Biological Chemistry. – 1998. – Vol. 273, №6. – P. 3230-3235.
Granulocyte colony-stimulating factor receptor signaling involves the formation of a three-component complex with Lyn and Syk protein-tyrosine kinases / S.J. Corey, A.L. Burkhardt, J.B. Bolen et al. // Proceedings of the National Academy of Sciences of the United States of America. – 1994. – Vol. 91, №11. – P. 4683-4687.
Oncogenic CSF3R Mutations in Chronic Neutrophilic Leukemia and Atypical CML / J.E. Maxson, J. Gotlib, D.A. Pollyea et al. // New England Journal of Medicine. – 2013. – Vol. 368, №19. – P. 1781-1790.
The CSF3R T618I mutation causes a lethal neutrophilic neoplasia in mice that is responsive to therapeutic JAK inhibition / A.G. Fleischman, J.E. Maxson, S.B. Luty et al. // Blood. – 2013. – Vol. 122, №22. – P. 3628-3631.
CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia / A. Pardanani, T.L. Lasho, R.R. Laborde et al. // Leukemia. – 2013. – Vol. 27, №9. – P. 1870-1873.
An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms / A. Tefferi, J. Thiele, A.M. Vannucchi, T. Barbui // Leukemia. – 2014. – Vol. 28, №7. – P. 1407-1413.
Phase 2 Study of Ruxolitinib in Patients with Chronic Neutrophilic Leukemia or Atypical Chronic Myeloid Leukemia / K.-H. Dao, R.H. Collins, J.E. Cortes et al. // Blood. – 2018. – Vol. 132, №Supplement 1. – P. 350-350.
Maxson, J.E., Tyner, J.W. Genomics of chronic neutrophilic leukemia // Blood. – 2017. – Vol. 129, №6. – P. 715-722.
WHO-defined chronic neutrophilic leukemia: a long-term analysis of 12 cases and a critical review of the literature / M.A. Elliott, C.A. Hanson, G.W. Dewald et al. // Leukemia. – 2004. – Vol. 19, №2. – P. 313-317.
Chronic neutrophilic leukemia (CNL): a clinical, pathologic and cytogenetic study / M.A. Elliott, G.W. Dewald, A. Tefferi, C.A. Hanson // Leukemia. – 2001. – Vol. 15, №1. – P. 35-40.
European consensus on grading bone marrow fibrosis and assessment of cellularity / J. Thiele, H.M. Kvasnicka, F. Facchetti et al. // Haematologica. – 2005. – Vol. 90, №8. – P. 1128-1132.
Successful alpha-2b-interferon therapy for chronic neutrophilic leukemia / S. Meyer, W. Feremans, B. Cantiniaux et al. // Am J Hematol. – 1993. – Vol. 43, №4. – P. 307-309.
Efficacy of Ruxolitinib in Patients With Chronic Neutrophilic Leukemia and Atypical Chronic Myeloid Leukemia / K.T. Dao, J. Gotlib, M.M.N. Deininger et al. // Journal of clinical oncology : official journal of the American Society of Clinical Oncology. – 2020. – Vol. 38, №10. – P. 1006-1018.
The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms / J.D. Khoury, E. Solary, O. Abla et al. // Leukemia. – 2022. – Vol. 36. – P. 1703–1719.
Identification of risk factors in atypical chronic myeloid leukemia / M. Breccia, F. Biondo, R. Latagliata et al. // Haematologica. – 2006. – Vol. 91, №11. – P. 1566-8.
The new genetics of chronic neutrophilic leukemia and atypical CML: implications for diagnosis and treatment / J. Gotlib, J.E. Maxson, T.I. George, J.W. Tyner // Blood. – 2013. – Vol. 122, №10. – P. 1707-1711.
Characteristics and survival of BCR/ABL negative chronic myeloid leukemia: a retrospective analysis of the Surveillance, Epidemiology and End Results database / S. Giri, R. Pathak, M.G. Martin, V.R. Bhatt // Ther Adv Hematol. – 2015. – Vol. 6, №6. – P. 308-12.
Atypical chronic myeloid leukemia is clinically distinct from unclassifiable myelodysplastic/myeloproliferative neoplasms / S.A. Wang, R.P. Hasserjian, P.S. Fox et al. // Blood. – 2014. – Vol. 123, №17. – P. 2645-51.
Characteristics and survival of BCR/ABL negative chronic myeloid leukemia: a retrospective analysis of the Surveillance, Epidemiology and End Results database / S. Giri, R. Pathak, M.G. Martin, V.R. Bhatt // Therapeutic advances in hematology. – 2015. – Vol. 6, №6. – P. 308-312.
Targeted next generation sequencing and identification of risk factors in World Health Organization defined atypical chronic myeloid leukemia / M.M. Patnaik, D. Barraco, T.L. Lasho et al. // Am J Hematol. – 2017. – Vol. 92, №6. – P. 542-548.
Atypical chronic myeloid leukemia: a rare entity with management challenges / P. Dhakal, K. Gundabolu, C. Amador et al. // Future Oncol. – 2018. – Vol. 14, №2. – P. 177-185.
Recurrent ETNK1 mutations in atypical chronic myeloid leukemia / C.B. Gambacorti-Passerini, C. Donadoni, A. Parmiani et al. // Blood. – 2015. – Vol. 125, №3. – P. 499-503.
Lasho, T. Atypical CML- the role of morphology and precision genomics // Best Pract Res Clin Haematol. – 2020. – Vol. 33, №2. – P. 101133.
Specific molecular mutation patterns delineate chronic neutrophilic leukemia, atypical chronic myeloid leukemia, and chronic myelomonocytic leukemia / M. Meggendorfer, T. Haferlach, T. Alpermann et al. // Haematologica. – 2014. – Vol. 99, №12. – P. e244-6.
Recurrent SETBP1 mutations in atypical chronic myeloid leukemia / R. Piazza, S. Valletta, N. Winkelmann et al. // Nat Genet. – 2013. – Vol. 45, №1. – P. 18-24.
The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes / D.P. Steensma, G.W. Dewald, T.L. Lasho et al. // Blood. – 2005. – Vol. 106, №4. – P. 1207-9.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies / R. Acuna-Hidalgo, P. Deriziotis, M. Steehouwer et al. // PLOS Genetics. – 2017. – Vol. 13, №3. – P. e1006683.
SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations / M. Meggendorfer, U. Bacher, T. Alpermann et al. // Leukemia. – 2013. – Vol. 27, №9. – P. 1852-60.
Gotlib, J. How I treat atypical chronic myeloid leukemia // Blood. – 2017. – Vol. 129, №7. – P. 838-845.
Allogeneic hematopoietic cell transplantation in adult patients with myelodysplastic/myeloproliferative neoplasms / S.N. Lim, J.H. Lee, J.H. Lee et al. // Blood Res. – 2013. – Vol. 48, №3. – P. 178-84.
Postallogeneic monitoring with molecular markers detected by pretransplant next-generation or Sanger sequencing predicts clinical relapse in patients with myelodysplastic/myeloproliferative neoplasms / Y. Fu, T. Schroeder, T. Zabelina et al. // European Journal of Haematology. – 2014. – Vol. 92, №3. – P. 189-194.
Clinical course and molecular features in 21 patients with atypical chronic myeloid leukemia / M. Koldehoff, N.K. Steckel, Y. Hegerfeldt et al. // International Journal of Laboratory Hematology. – 2012. – Vol. 34, №1. – P. e3-e5.

Еще

Статья научная