Specific chromosomal aberrations in de novo acute myeloid leukemia: A comparative analysis of results with a report of three novel chromosomal rearrangements t(7;14)(q35;q13), t(8;18)(p11.2;q12), t(13;15) in Indian population |
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| Affiliation: | 1. Research and Development, SRL Ranbaxy Ltd., Plot No. 124, 17th Street, MIDC, Andheri (E), Mumbai 400093, India;2. Cancer Cytogenetic Division, SRL Ranbaxy Ltd., Plot No. 124, 17th Street, MIDC, Andheri (E), Mumbai 400093, India;1. Haematology Department, Peter MacCallum Cancer Center, East Melbourne, Victoria, Australia;2. University of Melbourne, Parkville, Victoria, Australia;3. Department of Clinical Haematology and BMT, Royal Melbourne Hospital, Parkville, Victoria, Australia;4. Cancer and Haematology Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia;1. Clinical Pathology & Hematology, Faculty of Medicine, Cairo University, Egypt;2. Oncology Unit of National Cancer Institute, Cairo University, Egypt;1. National Research Center for Hematology, Ministry of Healthcare of the Russian Federation, Moscow, Russia;2. Russian Medical Academy of Postdegree Education, Moscow, Russia;3. Federal Scientific Clinical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia;1. Rennes University Hospital, Department of Forensic Medicine, 2 rue Henri Le Guilloux, 35033 Rennes Cedex 9, France;2. University of Rennes 1, Faculty of Medicine, 2, avenue du Professeur Léon Bernard, 35043 Rennes Cedex, France;3. Rennes University Hospital, Department of Pediatrics, 16 boulevard de Bulgarie, 35203 Rennes Cedex 2, France;4. Rennes University Hospital, Department of Pathology, 2 rue Henri Le Guilloux, 35033 Rennes Cedex 9, France;5. Vitré Hospital, Department of Pediatrics, 30 route de Rennes, 35506 Vitré Cedex, France;6. Rennes University Hospital, Department of Pediatric Imaging, 16 boulevard de Bulgarie, 35203 Rennes Cedex 2, France;1. Laboratory of Cell Biology and Virology, Institute of Molecular Biology of NAS RA, 0014 Yerevan, Armenia;2. Yerevan State Medical University, Armenia |
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| Abstract: | Background: Acute myeloid leukemia (AML) is a heterogeneous disease with regard to morphology, immunophenotype, and genetic rearrangements. Multiple recurrent chromosomal aberrations have been identified by conventional cytogenetic analysis, which is now widely recognized as one of the most important diagnostic and prognostic determinants in AML. Method: Conventional cytogenetic analysis was done on 200 de novo AML subjects. Results: Of these, 176 (88%) were successfully karyotyped and 24 (12%) showed culture failure. Among the176 subjects, 101 (57.4%) were abnormal and 75 (42.6%) showed an apparently normal karyotype. The various aberrations observed were t(8;21)(q22;q22) (5.2%); t(15;17) (q22;q11-21) (9%); t(9;22)(q34;q11)(1.7%); t(14;17)(q32;q11.2)(0.5%); inv(16)(p13;q22)(1.7%); 11q23 rearrangements (4%); monosomy 7 (2.2%) and 22 (1.1%); deletion of 9q (q22q34) (5.1%), 5q (q13q33) (0.5%) and 13q (q13q31) (0.5%); common trisomies like +8 (5.6%), +16 (1.7%), +22 (1.1%), +21 (0.5%), +13 (0.5%), +11 (0.5%), +3 (0.5%); hyperdiploidy (3.4%); hypodiploidy (1.1%); complex karyotype (4%); and other structural abnormalities (4.5%). Apart from these, three novel chromosomal abnormalities viz. t(8;18), t(7;14), t(13;15) were observed in the current study population. Conclusion: This study confirms that the incidence of chromosomal abnormalities varies considerably. Comparatively, the incidence t(15;17), and del9q is higher, while that of −5/del5q, −7/del7q and inv (16) were lower in our population. Similarly, the frequency of other recurrent FAB associated abnormalities viz. 11qabn was comparable to previous reports. Furthermore, ongoing cytogenetic studies are warranted in larger groups of AML cases to identify newly acquired chromosomal aberrations that may aid in cloning novel genes involved in the neoplastic process, ultimately helping in the development of targeted therapeutic drugs. |
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