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Abstract

Objective: The aim of this study is to investigate rearrangements at the region of MYC gene by conventional cytogenetics and interphase FISH methods in patients with acute lymphoblastic leukemia (ALL).Methods: The study was carried out on bone marrow specimens of 25 ALL patients who were referred to our laboratory. Fourteen children and 11 adult ALL cases were examined. Conventional cytogenetic analysis was performed using G banding technique and fluorescence in situ hybridization technique was applied using MYC breakapart probe (Cytocell).Results: Totally, in 2 of 25 cases available metaphases were not obtained. While in 9 of 23 cases were found to have normal karyotype (39.1%), numerical chromosomal abnormalities were detected in 6 cases, structural abnormalities in 4 and both numerical and structural abnormalities were found in 4 cases.In one case (4%) t(8;14)(q24;q32) was found as a cytogenetic aberration in which MYC gene locus involved. FISH analysis was performed successfully in all cases and MYC rearrangements were found in 3 cases (12%) by FISH method.Conclusion: By comparing two techniques, it was observed that FISH method showed more sensitivity, however conventional cytogenetic techniques were also effective to reveal all changes of the chromosomes. Therefore, we concluded that it would be more efficient to use of these two techniques together. J Clin Exp Invest 2015; 6 (1): 21-26

Keywords

• Acute lymphoblastic leukemia, MYC, cytogenetics, fluorescent ın situ hybridization

Akut lenfoblastik lösemili hastalarda MYC gen bölgesindeki yeniden düzenlenmelerin konvansiyonel sitogenetik ve floresan in situ hibridizasyon yöntemleriyle incelenmesi

Öz

Amaç: Bu çalışmada akut lenfoblastik lösemili (ALL) hastalarda MYC gen bölgesindeki yeniden düzenlenmelerin konvansiyonel sitogenetik ve interfaz FISH yöntemleriyle incelenmesi amaçlanmıştır. Yöntemler: Çalışma, ALL tanısıyla laboratuvarımıza gönderilen 25 olgudan alınan kemik iliği örneğinde gerçekleştirildi. On dört çocukluk çağı ve 11 yetişkin ALL hastası incelendi. Konvansiyonel sitogenetik inceleme için G bantlama yöntemi, Floresan in situ hibridizasyon (FISH) yöntemi için MYC breakapart probu (Cytocell) kullanıldı. Bulgular: Toplam 25 olgunun 2’sinde (%8) değerlendirilebilecek metafaz elde edilemedi. Kromozom analizi ger- çekleştirilen 23 olgunun 9’unda (%39,1) normal karyotip saptanırken, 6 olguda kromozom sayı anomalileri, 4 olguda yapı ve 4 olguda ise hem sayı hem de yapı anomalileri gözlendi. MYC gen bölgesini içine alan tek sitogenetik anomali olarak bir olguda (%4) t(8;14)(q24;q32) saptandı. Olguların tümünde FISH analizinden sonuç alındı ve 3 olguda (%12) MYC bölgesinde FISH yöntemi ile yeniden düzenlenme olduğu gösterildi. Sonuç: İki yöntem karşılaştırıldığında MYC gen bölgesinin yeniden düzenlenmelerinin gösterilmesinde FISH yönteminin daha duyarlı olduğu, ancak konvansiyonel sitogenetik yöntemlerin de kromozomlarda meydana gelen tüm değişimlerin ortaya konmasında etkili olduğu gözlendi. Bu nedenle tek bir anomali araştırılan durumlarda dahi iki yöntemin birlikte kullanımının daha etkili olacağı sonucuna varıldı. Anahtar kelimeler: Akut lenfoblastik lösemi, MYC, sitogenetik, floresan in situ hibridizasyon

Anahtar Kelimeler

• Akut lenfoblastik lösemi, MYC, sitogenetik, floresan in situ hibridizasyon

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