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Orazi A, Bennett JM, Bain BJ, et al. Atypical chronic myeloid leukaemia, BCR-ABL1 negative. In: Swerdlow SH, Campo E, Harris NL, et al, editors. WHO Classification of tumors of haematopoietic and lymphoid tissues. Lyon, France: IARC Press; 2017. pp. 87¨C89.2. Kantarjian HM, Keating MJ, Walters RS, et al. Clinical and prognostic features of Philadelphia chromosome-negative chronic myelogenous leukemia. Cancer 1986; 58:2023¨C2030.3. Kurzrock R, Bueso-Ramos CE, Kantarjian H, et al. BCR rearrangement-negative chronic myelogenous leukemia revisited. J Clin Oncol 2001; 19:2915¨C2926.4. Giri S, Pathak R, Martin MG, Bhatt VR. 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; 6:308¨C312.5. Sadigh S, Hasserjian RP, Hobbs G. Distinguishing atypical chronic myeloid leukemia from other Philadelphia-negative chronic myeloproliferative neoplasms. Curr Opin Hematol. 2020;27(2):122-127.6. Itonaga H, Ota S, Ikeda T, et al. Allogeneic hematopoietic stem cell transplantation for the treatment of BCR-ABL1-negative atypical chronic myeloid leukemia and chronic neutrophil leukemia: a retrospective nationwide study in Japan. Leuk Res 2018; 75:50¨C57.7. Meggendorfer M, Haferlach T, Alpermann T, et al. Specific molecular mutation patterns delineate chronic neutrophilic leukemia, atypical chronic myeloid leukemia, and chronic myelomonocytic leukemia. Haematologica 2014; 99:e246.8. Wang SA, Hasserjian RP, Fox PS, et al. Atypical chronic myeloid leukemia is clinically distinct from unclassifiable myelodysplastic/myeloproliferative neoplasms. Blood 2014; 123:2645 -2651.9. 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; 92:542¨C548.10. Schwartz LC, Mascarenhas J. Current and evolving understanding of atypical chronic myeloid leukemia. Blood Rev 2019; 33:74¨C81.11. Faisal M, Stark H, Busche G, € et al. Comprehensive mutation profiling and mRNA expression analysis in atypical chronic myeloid leukemia in comparison with chronic myelomonocytic leukemia. Cancer Med 2019; 8:742¨C750.12. Zhang H, Wilmot B, Bottomly D, et al. Genomic landscape of neutrophilic leukemias of ambiguous diagnosis. Blood 2019; 134:867¨C879.13. Hasserjian RP. Illuminating neutrophilic myeloid neoplasms. Blood 2019; 134:846¨C848.14. Steer EJ, Cross NC. Myeloproliferative disorders with translocations of chromosome 5q31-35: role of the platelet-derived growth factor receptor Beta. Acta Haematol 2002; 107:113¨C122.15. Cheah CY, Burbury K, Apperley JF, et al. Patients with myeloid malignancies bearing PDGFRB fusion genes achieve durable long-term remissions with imatinib. Blood 2014; 123:3574¨C3577.16. Meggendorfer M, Roller A, Haferlach T, et al. SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML). Blood 2012; 120: 3080¨C3088.
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