PROS AND CONS FOR FLUORESCENT <i>IN SITU</i> HYBRIDIZATION, KARYOTYPING AND NEXT GENERATION SEQUENCING FOR DIAGNOSIS AND FOLLOW-UP OF MULTIPLE MYELOMA

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Ikbal Atli E., GÜRKAN H., Onur Kirkizlar H. O., ATLI E. İ., DEMİR S., YALÇINTEPE S., ...Daha Fazla

BALKAN JOURNAL OF MEDICAL GENETICS, cilt.23, sa.2, ss.59-63, 2020 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 2
  • Basım Tarihi: 2020
  • Doi Numarası: 10.2478/bjmg-2020-0020
  • Dergi Adı: BALKAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, Directory of Open Access Journals
  • Sayfa Sayıları: ss.59-63
  • Anahtar Kelimeler: Cytogenetics, Fluorescent in situ hybridization (FISH), Multiple myeloma, Next generation sequencing (NGS)
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Trakya Üniversitesi Adresli: Evet

Özet

Multiple myeloma (MM) is one of the plasma cell-related 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.