PROGNOSTIC SIGNIFICANCE OF MONOSOMAL KARYOTYPE IN ADULT ACUTE MYELOID LEUKEMIA
DOI:
https://doi.org/10.32471/oncology.2663-7928.t-21-2-2019-g.7374Keywords:
acute myeloid leukemia, cytogenetic abnormalities, diagnosis, karyotype, monosomal karyotype, prognosisAbstract
Aim: to detect the frequency, diagnostic and prognostic significance of monosomal karyotype (MK) in adult patients with acute myeloid leukemia (AML) and to determine the most common monosomies involved in MK+ AML. Materials and methods: cytogenetic investigations of bone marrow and/or peripheral blood cells from 116 newly diagnosed adult patients with AML [range: 18–85 years, 70 (60%) males and 46 (40%) females] were performed. The methods of conventional cytogenetics (GTG) and fluorescence in situ hybridization (FISH) were used. Results: chromosomal abnormalities of various kinds were found in 68 (59%) patients. Taking into consideration the identified cytogenetic abnormalities, AML patients were classified into 3 risk groups: the group of patients with favorable cytogenetic markers t(8;21)(q22;q22), t(15;17)(q22;q11-21) and inv(16)(p13q22)/t(16;16)(p13;q22), the intermediate-risk group without significant prognostic markers and the group of patients with adverse prognostic factors [monosomies 5 and 7, deletions of 5q and 7q, rearrangements of 3q and 17p, t(9;22)(q34;q11), complex karyotype and MK]. MK was found in 7 (6%) patients. With respect to the distribution of monosomies in MK, 2 (29%) cases had one autosomal monosomy and 5 (71%) patients had ≥ 3. One (14%) patient of the MK+ AML cases had only monosomies, whereas 6 (86%) had also structural cytogenetic abnormalities, except the monosomies. The most common monosomies were: -5 (71%), -16 (57%), -7 (43%) and -17 (43%). The patients with MK+ AML were classified into a new cytogenetic category of AML with a very poor prognosis. Median survival of these patients was 1 month and all patients died within 4 months. Conclusions: in our investigation chromosomal abnormalities of various kinds were found in 59% of adult patients with AML. Cytogenetic investigations are recommended for inclusion in the standard examination of patients with AML for diagnosis, prognosis of disease and selection the optimal treatment strategy.
References
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): 2391–405.
Anelli L, Pasciolla C, Zagaria A, et al. Monosomal karyotype in myeloid neoplasias: a literature review. OncoTargets Therapy 2017; 10: 2163–71.
Kayser S, Zucknick M, Dohner K, et al. Monosomal karyotype in adult acute myeloid leukemia: prognostic impact and outcome after different treatment strategies. Blood 2012; 119 (2): 551–8.Hui EKC, Wan TSK, Ng MHL. Chromosome preparation for myeloid malignancies. Cancer Cytogenetics. Methods Mol Biol 2017; 1541: 11–7.
Andreeva SV, Drozdova VD. Analysis standards of chromosomal preparations in hematological neoplasms (guidelines). Kyiv, 2007. 44 p. (in Ukrainian).
Pienkowska-Grela B, Brycz-Witkowska J, Chmarzynska-Mroz E, et al. Cytogenetic analysis in hematoonkological neoplasms (Adviser). Warsaw, 2004. 59 p. (in Polish).
Pinkel D, Straume T, Gray JW. Cytogenetic analysis using quantitative high sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 1986; 83 (9): 2934–8.
McGowan-Jordan J, Simons A, Schmid M, et al. An International System for Human Cytogenetic Nomenclature: ISCN (2016). Basel: Karger, 2016.
Mrózek K, Marcucci G, Nicolet D, et al. Prognostic significance of the European LeukemiaNet standardized system for reporting cytogenetic and molecular alterations in adults with acute myeloid leukemia. J Clin Oncol 2012; 30: 4515–23.
Jang JE, Min YH, Yoon J, et al. Single monosomy as a relatively better survival factor in acute myeloid leukemia patients with monosomal karyotype. Blood Cancer J 2015; 5 (10): 1–7.
