Kronik Myeloid Lösemide Tanı Anında İlave Kromozomal Abnormaliteler ve Varyant Philadephia Translokasyonları; Tek Merkez Deneyimi

Year 2019, Volume: 26 Issue: 3, 320 - 327, 01.09.2019

Çiğdem Aydın Acar , Zafer Çetin Orhan Kemal Yücel Utku Iltar Ozan Salim , Sibel Berker Karaüzüm

https://doi.org/10.17343/sdutfd.535002

Abstract

Amaç: Kronik
miyeloid lösemi (KML) hastalarında Philadelphia (Ph) kromozomunun yanında, ilave
 kromozom anomalilerin varlığı hastalık
progresyonu ile ilişkili klonal evrimi göstermektedir. Bu nedenle, geniş hasta
serilerinde sitogenetik analiz sonuçlarının değerlendirilmesi, KML hastalarında
tanı kadar, hastalığın prognozu açısından da büyük öneme sahiptir.  

Gereç
ve Yöntem: Bu çalışmada, KML tanılı 225 hastanın kemik
iliği örneklerinden elde edilmiş sitogenetik ve FISH analiz sonuçları
retrospektif olarak incelenmiştir.

Bulgular:
225 hastanın 15’inde (%6,7) klasik Ph kromozomuna ilave kromozomal abnormalite
belirlenmiştir. Bu hastalardan 2’sinde minör rota (%0,9), 10’unda majör
rota  (%4,4) kromozom anomalileri, ayrıca
3 hastada sırasıyla ilave kromozom anomalisi olarak t(8;19), t(5;7) ve 16 numaralı
kromozomun kaybı gözlenmiştir. İlave kromozomal abnormaliteler içerisinde en
yaygın olarak ikinci bir Ph kromozomunun varlığı ve bunu takiben  8 ve 19 numaralı kromozomların trizomisi
belirlenmiştir. 225 hastanın 7’sinde (%3,1) ise varyant philadelphia kromozom
translokasyonu gösterilmiştir ve bu varyant translokasyonlardan  t(X;9;22)( p11.4;q34;q11) ve
t(20;9;22)(p13;q34;q11) ise bizim çalışmamızda ilk kez rapor edilmiştir.

Sonuç:
Çalışmamızda sonuç olarak, t(9;22) translokasyonuna ilave kromozom
abnormalitelerinin ve varyant Ph translokasyonlarının KML kliniği ile ilişkisi
ve literatüre göre değerlendirilmesi yapılmıştır. 

Keywords

Kronik miyeloid lösemi, İlave kromozom anomalileri, KML

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