Balkan Journal of Medical Genetics

PROS AND CONS FOR FLUORESCENT IN SITU HYBRIDIZATION, KARYOTYPING AND NEXT GENERATION SEQUENCING FOR DIAGNOSIS AND FOLLOW-UP OF MULTIPLE MYELOMA
Ikbal Atli E, Gurkan H, Onur Kirkizlar H, Atli E, Demir S, Yalcintepe S, Kalkan R, Demir AM
*Corresponding Author: Assistant Professor Emine Ikbal Atli, Department of Medical Genetics, Faculty of Medicine, Trakya University, Balkan Campus, Highway D100, Edirne, Turkey 22030. Tel: +284-235- 76-41/23-30. Fax: +284-235-86-52. E-mail: eikbalatli@trakya.edu.tr
page: 59

INTRODUCTION

Multiple myeloma (MM) originates from the neoplastic transformation and proliferation of B-cells [1]. Multiple myeloma is a kind of plasma cell malignancy that is characterized by the accumulation of clonal plasma cells in the bone marrow [2]. Monoclonal gammopathy of undetermined significance (MGUS) is a heterogeneous disorder that starts with premalign stage and progresses to bone destruction, suppression of bone marrow function and renal failure [3,4]. Identification of cytogenetic abnormalities and development of novel prognostic biomarkers are the important cornerstones of MM in recent years [2,5]. The genetic background of MM is complex and contains several translocations [6]. Conventional cytogenetic analysis should be included in the initial diagnostic tests for patients suspected of carrying MM. Cytogenetic abnormalities have a prognostic significance in MM, and approximately 30.0-50.0% of cases demonstrate abnormal karyotypes, and abnormality frequency is also decreased in newly diagnosed patients. Cytogenetic analysis can provide useful prognostic information but particularly low spontaneous proliferative activity of tumor cells in the early stage of the disease is considered to be an important limiting factor [7]. Interpretation of abnormal metaphase cells may be difficult due to the poor quality of metaphase spreads and chromosomal morphologies, and this situation prevents identification of critical chromosomal changes in MM patients [8]. These limitations have been partially overcome using molecular cytogenetic techniques such as fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH) [2]. The important point of FISH analysis is target specificity and CGH is not suitable for identification of balanced abnormalities [7]. Currently, in standard usage, conventional chromosome analysis, targeted FISH panels, and single nucleotide polymorphism (SNP) microarrays, are used to detect chromosome translocations and gains and losses in MM. Moreover, the development of next generation sequencing (NGS) expanded our knowledge of MM biology, identifying new and recurrent driver abnormalities such as single nucleotide variants (SNVs) and deletions [6]. In this study, we aimed to provide a comparison of both conventional cytogenetic/FISH results and NGS in Turkish patients who have been newly diagnosed to carry MM.

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