Preprint / Version 1

Recent Diagnostic Techniques and Their Implications towards Acute Myeloid and Chronic Neutrophilic Leukemia


  • Issac Lee Polygence



Leukemia, acute meyeloid , neutrophilic


Leukemia is characterized by the uncontrolled proliferation of abnormal white blood cells within bone marrow, leading to immaturities within blood cells. In acute myeloid leukemia and chronic neutrophilic leukemia, genetic mutations induced by either foreign or natural processes lead to the development of leukemia. Although leukemia is a diagnosable disease, the diverse subtypes and a complex, multi-step diagnosis makes identifying expedient, accurate  diagnosis methods a top priority. With specific methods being attributed as the only means of diagnosing leukemia, and the importance of proper subtype classification in patient prognosis, the lack of research regarding novel diagnostic approaches remains a concern due to the important role leukemia classification plays in the prognosis of the patient. Currently, three diagnosis methods can be regarded as prevalent to the modern diagnosis of leukemia: epigenetics, molecular genetics, and cytogenetics. Each of these current methods are capable of identifying specific subtypes of leukemia. Furthermore, developing more detailed diagnosis criteria will provide better prognostic stratification. This review will cover various diagnosis methods regarding acute myeloid leukemia and chronic neutrophilic leukemia. Further inquiry in the area of diagnostics  could reveal novel patterns within the diagnosis of Leukemia, furthering the ability to treat patients more specifically which can increase the prognosis of the patient. 



Ahn, J. W., Coldwell, M., Bint, S., & Mackie Ogilvie, C. (2015). Array comparative genomic hybridization (array CGH) for detection of genomic copy number variants. Journal of Visualized Experiments: JoVE, 96, e51718.

Al Aboud, N. M., Tupper, C., & Jialal, I. (2023). Genetics, Epigenetic Mechanism. StatPearls Publishing.

Chauhan, P. S., Ihsan, R., Singh, L. C., Gupta, D. K., Mittal, V., & Kapur, S. (2013). Mutation of NPM1 and FLT3 genes in acute myeloid leukemia and their association with clinical and immunophenotypic features. Disease Markers, 35(5), 581–588.

Chim, C. S., Lau, J. S., Wong, K. F., & Kwong, Y. L. (2006). CDKN2B methylation is an independent poor prognostic factor in newly diagnosed acute promyelocytic leukemia. Leukemia, 20(1), 149–151.

Dwivedi, P., & Greis, K. D. (2017). Granulocyte colony-stimulating factor receptor signaling in severe congenital neutropenia, chronic neutrophilic leukemia, and related malignancies. Experimental Hematology, 46, 9–20.

Juliusson, G., Jädersten, M., Deneberg, S., Lehmann, S., Möllgård, L., Wennström, L., Antunovic, P., Cammenga, J., Lorenz, F., Ölander, E., Lazarevic, V. L., & Höglund, M. (2020). The prognostic impact of FLT3-ITD and NPM1 mutation in adult AML is age-dependent in the population-based setting. Blood Advances, 4(6), 1094–1101.

Kelemen, K. (2022). The Role of Nucleophosmin 1 (NPM1) Mutation in the Diagnosis and Management of Myeloid Neoplasms. Life , 12(1).

Mrózek, K. (2008). Cytogenetic, molecular genetic, and clinical characteristics of acute myeloid leukemia with a complex karyotype. Seminars in Oncology, 35(4), 365–377.

Mrózek, K., Harper, D. P., & Aplan, P. D. (2009). Cytogenetics and molecular genetics of acute lymphoblastic leukemia. Hematology/oncology Clinics of North America, 23(5), 991–1010, v.

Reikvam, H., Hatfield, K. J., Kittang, A. O., Hovland, R., & Bruserud, Ø. (2011). Acute myeloid leukemia with the t(8;21) translocation: clinical consequences and biological implications. Journal of Biomedicine & Biotechnology, 2011, 104631.

Shakoori, A. R. (2017). Fluorescence In Situ Hybridization (FISH) and Its Applications. In T. A. Bhat & A. A. Wani (Eds.), Chromosome Structure and Aberrations (pp. 343–367). Springer India.

Suto, Y., Akiyama, M., Noda, T., & Hirai, M. (2015). Construction of a cytogenetic dose-response curve for low-dose range gamma-irradiation in human peripheral blood lymphocytes using three-color FISH. Mutation Research. Genetic Toxicology and Environmental Mutagenesis, 794, 32–38.

Takahashi H., Sakai R., Hattori Y., Ohshima R., Hagihara M., Kuwabara H., Ishigatsubo Y., & Fujisawa S. (2011). [Biclonal co-existence of t(15;17) and t(9;22) chromosomal abnormalities in acute promyelocytic leukemia]. [Rinsho ketsueki] The Japanese journal of clinical hematology, 52(1), 37–40.