Şanlıurfa Bölgesindeki Akut Lenfoblastik Lösemili Çocuk Hastaların Sitogenetik Analiz Sonuçları

Abstract

Amaç: Lösemik hücrelerin sitogenetik özelliklerinin akut lenfoblastik lösemi (ALL) tanı, sınıflama ve prognozunda büyük önemi vardır. Bu çalışmada Şanlıurfa bölgesindeki ALL’li çocuk hastaların sitogenetik sonuçlarını araştırdık.Materyal Metod: Şanlıurfa Harran Üniversitesi Tıp Fakültesi Çocuk Hematoloji kliniğinde Ekim 2010-Şubat 2012 tarihleri arasında yeni tanı alan ortalama 5.7 yaşında (aralık: 1.5-15.8 yıl) 27 ALL’li çocuk (17 erkek, 10 kız) hasta çalışmaya alındı. Kemik iliği örnekleri havayolu ile İstanbul’daki sitogenetik laboratuvarına ulaştırıldı.Karyotip analizi uyarılmamış kemik iliği kültürü ile GTL/<400-bantlama seviyesi; translokasyon çalışmalarında ise t(12;21) RT-PCR, t(12;21) FISH, t(9;22) RT-PCR, t(9;22) FISH,t(1;19) FISH, t(4;11) FISH, t(9;11) FISH, t(11;19) FISH çalışıldı.Sonuçlar: 27 hastanın karyotip çalışması neticesinde 3 (%14.3) vakada kompleks karyotip anomalisi, 1 (%11.1) vakada hiperdiploidi, 2 (%7.4) vakada yüksek hiperdiploidi, 1 (%3.7) vakada hipodiploidi, 14 (%51.8) vakada normal karyotip, 3 vakada ‘metafaza rastlanmadı’, 3 vakada ise ‘örnek yetersizliği nedeniyle çalışma yapılamadı’ şeklinde sonuçlar elde edildi. Moleküler sitogenetik çalışmalarda RT-PCR ile yapılan 61 testten 5’inde (%8,2) pozitiflik, 124 FISH çalışmasının ise 2’sinde (%1.6) pozitiflik saptandı. Pozitif RT-PCR testlerinden birinde t(12;21), ikisinde t(9;22), ikisinde ise t(1;19) saptandı. FISH pozitif olan vakalar ise t(12;21) olarak saptandı. t(9;22) FISH, t(4;11) FISH, t(9;11) FISH, t(11;19), t(1;19) FISH translokasyonları hiçbir vakada saptanmadı. 11 FISH çalışması incelemeye uygun hücre bulunamadığından analiz sonuçlandırılamadı, 16 moleküler test ise istem yapılmadığı için çalışılamadı.Sonuç: Kemik iliği örneklerinin sitogenetik incelemelerinde en önemli problem çalışmalarda inceleme için uygun metafaz veya hücreye rastlanamaması ya da örnek yetersizliği olarak bulunmuştur.

Keywords

• Karyotip, sitogenetik, akut lenfoblastik lösemi, çocuk

CYTOGENETIC STUDIES IN CHILDREN WITH ACUTE LYMPHOBLASTIC LEUKEMIA AT SANLIURFA PROVINCE

Abstract

Objective: The analysis of cytogenetic features of the leukaemic cells has great importance for the diagnosis, classification, and prognosis of acute lymphoblastic leukemia (ALL). In this study, the results of cytogenetic studies for childhood ALL was investigated at Sanliurfa province.Materials and Methods: Twenty-seven (17 male, 10 female) children with the mean age of 5.7 years (range 1.5-15.8 years) diagnosed as ALL at Harran University Medical Faculty Pediatric Hematology Clinic between September 2010 and February 2012 were included in this study. Bone marrow samples were transported by airway to cytogenetic laboratory in İstanbul. Karyotype analysis of non-stimulated bone marrow was performed at GTL/<400-band level and t(12;21) and t(9;22) were studied by RT-PCR; t(12;21), t(9;22), t(1;19), t(4;11), t(9;11), and t(11;19) were studied by FISH in bone marrow samples. Results: Of these karyotype analysis of 27 patients, 3 (11.1%) had complex karyotype anomalies, 1 (3.7%) had hyperdiploidy, 2 (7.5%) had high hyperdiploidy, 1 (3.7%) had hypodiploidy, 14 (51.8%) had normal kaypotype, 3 (11.1%) had no metaphase, and 3 (%11.1) samples were not studied because of insufficient samples. Molecular analysis of translocations revealed that 5 (8.2%) of 61 samples studied by RT-PCR and 2 (1.6%) of 124 samples studied by FISH were positive. Among 5 RT-PCR positive cases, 1 was positive for t(12;21); 2, positive for t(9;22); and 2, positive for t(1;19). Two FISH positive cases showed t(12;21). The other translocations including t(9;22), t(4;11), t(9;11), t(11;19), and t(1;19) studied by FISH were all negative. Eleven samples were inconvenient for FISH study and 16 samples were not studied for other reasons.Conclusion: In conclusion, the major challenge in this study is the lack of sufficient metaphase or cells on bone marrow samples and/or insufficient samples

Keywords

• Karyotype, cytogenetics, acute lymphoblastic leukemia, childhood

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