International Journal of Research in Medical Sciences | June 2017 | Vol 5 | Issue 6 Page 2652 International Journal of Research in Medical Sciences Vaniawala SN et al. Int J Res Med Sci. 2017 Jun;5(6):2652-2656 www.msjonline.org pISSN 2320-6071 | eISSN 2320-6012 Original Research Article The possible significance of trisomy 8 in acute myeloid leukemia Salil N. Vaniawala 1 , Monika V. Patel 1,2 , Pratik D. Chavda 1 , Shivangi H. Zaveri 1 , Pankaj K. Gadhia 1 * INTRODUCTION Cytogenetic studies in AML become most important useful prognostic factor in predicting initial response to induction chemotherapy, remission and overall survival. 1 Trisomy 8 is recurring numerical chromosomal aberrations in acute myeloid leukemia (AML). It occurs either as a sole anomaly or together with other aberrations. Furthermore, identification of primary translocations and inversions have trisomy 8 as a secondary abnormality includes t(8;21), t(9;11), t(15;17), and inv(16), which may have a good or intermediate prognosis. Thus, absence of this identification can confound interpretation of the prognostic significance of trisomy 8. 2 The leukemic karyotype specially with AML can be used as prognostic factor in predicating the initial response to induction of therapy, remission and overall survival because exact genetic and reliable method required to 1 Department of Molecular Cytogenetic Unit, S. N. Gene Lab. and Research Centre, Surat, Gujarat, India 2 Registered at Shri Jagdishprasad Jhabarmal Tibrewala University, Rajasthan, India Received: 04 April 2017 Accepted: 03 May 2017 *Correspondence: Dr. Pankaj K. Gadhia, E-mail: pankajkgadhia@gmail.com Copyright: © the author(s), publisher and licensee Medip Academy. This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. ABSTRACT Background: Acute myeloid leukemia (AML) is a heterogeneous disorder that results from a block in the differentiation of haematopoietic progenitor cells along with uncontrolled proliferation. Trisomy 8 is the most common recurring numerical chromosomal aberrations in acute myeloid leukemia (AML). It occurs either as a sole anomaly or together with other additional chromosomal aberrations. The prognostic significance of trisomy 8 in presence of other additional chromosomal abnormality depends on clonal cytogenetic changes. The patients with trisomy 8 had shorter survival with significantly increased risk with other chromosomal abnormality. Methods: Total 139 patients were screened between January 2016 to November 2016 who were suspected of AML cases. Bone marrow cultures were set up using conventional cytogenetic methods. Chromosomal preparation was made and subjected to GTG banding technique. Banded metaphases were analysed and karyotyped for further analysis. Results: Cytogenetic evaluation of karyotyped of 139 suspected AML patients showed 52 with t(8;21)(q22;q22), 36 with t(15;17)(q22;q12), and 11 with inv(16)(p13;q22). The rest 40 cases found with additional chromosomal abnormalities, of which 16 were sole trisomy 8 and 24 cases were found with other chromosomal abnormalities In addition, only one person found with t(8;21) and trisomy 8, while three person having t(15;17) with trisomy 8. Conclusions: AML is considered to be one of the most important cytogenetic prognostic determinants. Recurrent chromosomal translocation with trisomy 8 varying 1.9% for t(8;21) and 8.3% for t(15;17). In the present study trisomy 8 in AML with known favourable anomalies is very small. Therefore, it cannot be taken as a prognostic marker. Keywords: AML, Cytogenetic, Karyotype, Prognosis, Trisomy 8 DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20172464