ÖZET

Amaç:

Akut lenfoblastik lösemi (ALL), olgunlaşmamış lenfositlerin aşırı üretimi ile ilişkilendirilen bir hastalıktır. ALL’nin teşhisi ve sınıflandırılmasında klasik sitogenetik analizi (KSA) ile kromozom anomalilerinin tanımlanması önem teşkil etmektedir. Fakat KSA’nın kriptik kromozom değişimlerini saptamadaki sınırlılığı, bu yöntemin büyük bir dezavantajıdır. Yapılan çalışmanın amacı; floresan in situ hibridizasyon (FISH) yöntemi kullanılarak normal karyotipli veya değerlendirilecek metafazı olmayan ALL hastalarında mevcut kromozom anomalilerini araştırmaktır.

Yöntemler:

Çalışmaya 10 ALL hastası dahil edildi. KSA, standart protokollere göre uygulandı, ardından 2p13.2/21q22.12, 9q34.11-q34.12/22q11.22-q11.23, 9p21.3, 19p13.3, 11q23.3, 8q24.21, 14q32.33, 10p11.1-q11.1, 17p11.1-q11.1 ve 4q12’de yer alan kromozom bölgelerinin analizi için multiprob FISH paneli kullanıldı.

Bulgular:

Spesifik kromozom bölgelerinin FISH metodu ile analizi, önceden saptanmamış kromozom düzenlemelerinin bulunduğunu ortaya çıkardı. İncelenen tüm olguların dördünde kromozom anomalileri tespit edildi. Çalışmada MYC, TCF3, IGH genlerinin yeniden düzenlemeleri, CDKN2A delesyonu ve hiperdiploidi tespit edildi.

Sonuç:

Klasik sitogenetik analiz ile karşılaştırıldığında, FISH problarının tanıdaki duyarlılığı prognostik önemi olan çoklu kromozom anomalilerinin saptanmasında yararlıdır. Sitogenetik incelemelerin geliştirilmesi ve ALL olgularında en iyi test sonuçlarının elde edilmesi için, rutinde FISH panellerinin klasik sitogenetik yöntemler ile birleştirilerek kullanılması gerekmektedir.

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Multiprob Floresan In Situ Hibridizasyon Paneli Kullanılarak Akut Lenfoblastik Lösemide Kromozom Aberasyonları Üzerine Bir Ön Çalışma

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References