Akut Miyeloid Lösemide Kromozomal Anomaliler:Tek Merkezden 417 Olgunun Sitogenetik Sonuçları

Year 2017, , 37 - 51, 21.04.2017

Nüket Yürür Kutlay

https://doi.org/10.1501/Tipfak_0000000962

Abstract

Amaç: Lösemi hastalarının tanısında ve izleminde sitogenetik belirteçlerin önemli rolü vardır. Lösemiler içinde akut miyelositer lösemi (AML) hastalarında, sitogenetik sonuçlar göreceli olarak daha karmașıktır. AML hastalarında 150’den fazla, yapısal ve sayısal, tekrarlayan kromozomal değișiklik bildirilmiștir. Geniș hasta serilerinin sitogenetik analiz sonuçlarının değerlendirilmesi, AML gelișimi konusundaki genetik bilgilerin artmasını, prognostik ya da diagnostik yeni belirteçler bulunmasını sağlayacaktır.

Gereç ve yöntem: Bu çalıșmada Ankara Üniversitesi Tıp Fakültesi Genetik Hastalıklar Tanı Merkezinde arșivlenen, AML tanılı 417 hastanın periferik kan/kemik iliği örneklerinden standart protokole uygun olarak yapılan hücre kültürlerinden elde edilen sitogenetik analiz sonuçları retrospektif olarak değerlendirilmiștir.

Bulgular: Bu serinin incelenmesi sonucunda, AML için bilinen; t(15;17), t(16;16), t(8;21), del11q, monozomi 7 ve trizomi 8 gibi yapısal ve sayısal değișikliklerin yanı sıra yeni bir delesyon ve 13 farklı kromozomal yeniden düzenlenme ilk olarak gösterilmiștir.

Sonuç: Çalıșmamızda tanımlı sayısal ve yapısal değișikliklerin dağılımı ile yeni bulunan kromozomal düzenlenmelerin AML gelișimi üzerine olabilecek etkileri tartıșılmıștır. Saptadığımız kırık noktaları çeșitli malignitelerde tanımlanan farklı yeni düzenlenmelerde daha önce raporlanmıștır. Ancak bu seride belirlenen değișikliklerde, farklı kombinasyonlar ve buna bağlı olarak önceden saptanmamıș gen füzyonlarının oluștuğu görülmektedir. Belirlenen kırık noktalarından bazılarında hematopoetik veya lenfoid doku maligniteleri ile ilișkilendirilmiș ya da olası ilișkili tanımlı genler bulunurken, bazılarında henüz bir gen tanımlanmamıștır. 

Keywords

Akut Miyelositer Lösemi, AML

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