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

RESULTS

Thirty-five patients with MM were studied. Conventional cytogenetic analysis failed in 10 (28.0%) out of 35 patients. Twenty-five (71.4%) out of the 35 MM patients were reported to have a normal karyotype. In order to identify trisomies/monosomies, del13 and 17p13.1, and trans-locations involving the immunoglobulin heavy chain locus (IgH) and immunoglobulin λ-light chain locus (IgL-λ), FISH was performed. Abnormal FISH results were revealed in eight (22.8%) out of 35 cases (Table 2). In our series, 18 patients were female and 17 were male (sex ratio 1:1). The ages of patients ranged from 35 to 84 years at diagnosis, with a median age of 65. The frequency of molecular cytogenetic abnormalities and molecular variations in patients with abnormal FISH/NGS results are summarized in Table 3. Next generation sequencing analysis was applied to all cases and pathogenic or likely pathogenic variations were detected in six out of the 25 cytogenetically normal cases. Additionally, a pathological variant was identified in five out of eight cases who had abnormal FISH results. Variants of unknown significance (VUS) were identified in 10 cases and the sex ratio was detected as 1.3 (F:M, 13/10) in all of the abnormal cases.



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