INVESTIGATION OF CYTOGENETIC ABNORMALITIES IN NEWLY DIAGNOSED MULTIPLE MYELOMA PATIENTS BY OPTICAL GENOME MAPPING

Abstract

Objective: Multiple myeloma (MM) is a neoplasm characterised by malignant proliferation of plasma cells. The FISH study on plasma cells is the main tool for cytogenetic analysis. Optical genome mapping (OGM) uses a combination of cytogenetic, FISH, and chromosomal microarray techniques to detect abnormalities with greater sensitivity. In this study, we aimed to illuminate the lesser-known cytogenetic aspects of MM using OGM.

Materials and Methods: This study was conducted on five patients diagnosed with MM. Bone marrow samples were collected and used for flow cytometry to isolate plasma cells. OGM could not be performed in two patients. FISH was conducted on bone marrow, whereas OGM was performed on plasma cells.

Results: Patient 1 had a ploidy abnormality, as revealed by FISH. Patient 2 had monosomy 13 detected by FISH; in addition, OGM revealed 10 aneuploidies, two deletions, and one duplication. No abnormalities were detected in the regions analysed by FISH in Patient 3. Along with trisomy 1q21 detected by FISH, Patient 4 had 11 copy number variations (CNVs), 10 structural variants (SVs), and seven aneuploidies detected by OGM. In Patient 5, FISH revealed trisomy 1q21, monosomy 13, and trisomy 17. OGM detected 12 aneuploidies and two CNVs.

Conclusion: In MM, the use of OGM, which provides more detailed karyotypic classification, may provide valuable prognostic information for clinical practice. Newly identified abnormalities with OGM may contribute to our understanding of the aetiology and pathogenesis of the disease.

Keywords

• Multiple myeloma
• Fluorescence in situ hybridization
• Genomic structural variation
• genome mapping

YENİ TANILI MULTİPL MİYELOM HASTALARINDA SİTOGENETİK ANOMALİLERİN OPTİK GENOM HARİTALAMA İLE ARAŞTIRILMASI

Abstract

Amaç: Multipl miyeloma (MM), malign plazma hücrelerinin proliferasyonu ile karakterize bir neoplazidir. Plazma hücreleri üzerinde yapılan floresan in situ hibridizasyon (FISH) incelemesi, sitogenetik analiz için ana araçtır. Optik genom haritalama (OGM), anomalileri daha yüksek hassasiyetle tespit etmek için sitogenetik, FISH ve kromozomal mikroarray tekniklerinin bir kombinasyonunu kullanır. Bu çalışmada, OGM’nın kullanılması ile MM’nin daha az bilinen sitogenetik yönlerinin aydınlatılması amaçlandı.

Gereç ve Yöntemler: Bu çalışma, MM tanısı konulan beş olguda gerçekleştirildi. Kemik iliği örnekleri alındı ve akış sitometrisi ile plazma hücreleri izole edildi. İki olguda OGM yapılamadı. Tüm olgularda, FISH incelemesi kemik iliği, OGM ise plazma hücreleri kullanılarak yapıldı.

Bulgular: Olgu 1’de FISH ile ploidiyi düşündüren bir anomali saptandı. Olgu 2’de FISH ile monozomi 13 saptandı; ayrıca OGM ile 10 anöploidi, iki delesyon ve bir duplikasyon saptandı. Olgu 3’te FISH ile analiz edilen bölgelerde anomali tespit edilmedi. Olgu 4’te FISH ile tespit edilen 1q21 trizomisine ek olarak OGM ile 11 kopya sayısı varyasyonu (CNV), 10 yapısal varyant (SV) ve yedi anöploidi saptandı. Olgu 5’te FISH; 1q21 trizomisi, kromozom 13 monozomisi ve kromozom 17 trizomisini ortaya çıkardı. OGM 12 anöploidi ve iki CNV tespit etti.

Sonuç: MM’de daha ayrıntılı karyotipik sınıflandırma sağlayan OGM kullanımı, klinik uygulama için değerli prognostik bilgiler sağlayabilir. OGM ile yeni tanımlanan anomaliler, hastalığın etiyolojisi ve patogenezini anlamamıza katkıda bulunabilir.

Keywords

• Multipl miyeloma
• Floresan in situ hibridizasyon
• Genomik yapısal varyasyon
• optik genom haritalama

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