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
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Abstract
Multiple myeloma (MM) is one of the plasma cellrelated
hematological malignancies exceeding 10.0% of all
marrow cells, and they make a paraprotein that is a marker
of the disease. Myeloma is one of the most common types
of hematological malignancies in humans. Genetic biomarkers
have been used for prognostic markers in patients
diagnosed with MM. The genetic and genomic changes
have been identified using karyotyping, fluorescent in situ
hybridization (FISH), next generation sequencing (NGS),
specifically whole-genome sequencing or exome sequencing.
Circulatory plasma cells, circulating free DNA (cfDNA)
and microRNAs (miRNAs) comprised in liquid biopsy
are potentially used in diagnosis/prognosis of MM. In this
study, we analyzed and compared results of karyo-typing,
FISH and NGS in 35 MM cases. Diagnostic strategies are
expanding rapidly and newly developed NGS-based testing
may help the understanding of the complexities of genetic
alterations in karyotypically normal cases.
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