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

Amaç: Lösemi hastalarının tanısında ve izleminde sitogenetik belirteçlerin önemli rolü vardır. Lösemiler içinde akut miyelositer lösemi (AML) hastalarında, sitogenetik sonuçlar göreceli olarak daha karmasıktır. AML hastalarında 150'den fazla, yapısal ve sayısal, tekrarlayan kromozomal değisiklik bildirilmistir. Genis hasta serilerinin sitogenetik analiz sonuçlarının değerlendirilmesi, AML gelisimi konusundaki genetik bilgilerin artmasını, prognostik ya da diagnostik yeni belirteçler bulunmasını sağlayacaktır. Gereç ve yöntem: Bu çalısmada Ankara Üniversitesi Tıp Fakültesi Genetik Hastalıklar Tanı Merkezinde arsivlenen, AML tanılı 417 hastanın periferik kan/kemik iliği örneklerinden standart protokole uygun olarak yapılan hücre kültürlerinden elde edilen sitogenetik analiz sonuçları retrospektif olarak değerlendirilmistir. 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 değisikliklerin yanı sıra yeni bir delesyon ve 13 farklı kromozomal yeniden düzenlenme ilk olarak gösterilmistir. Sonuç: Çalısmamızda tanımlı sayısal ve yapısal değisikliklerin dağılımı ile yeni bulunan kromozomal düzenlenmelerin AML gelisimi üzerine olabilecek etkileri tartısılmıstır. Saptadığımız kırık noktaları çesitli malignitelerde tanımlanan farklı yeni düzenlenmelerde daha önce raporlanmıstır. Ancak bu seride belirlenen değisikliklerde, farklı kombinasyonlar ve buna bağlı olarak önceden saptanmamıs gen füzyonlarının olustuğu görülmektedir. Belirlenen kırık noktalarından bazılarında hematopoetik veya lenfoid doku maligniteleri ile iliskilendirilmis ya da olası iliskili tanımlı genler bulunurken, bazılarında henüz bir gen tanımlanmamıstır.

Chromosomal Anomalies in Acute Myeloid Leukemia: Cytogenetic Results of -417 Cases Froma Single Center

Aim: Cytogenetic markers have important roles in the diagnosis and follow up of leukemia patients. In AML patients cytogenetic results are relatively more complicated compared to other leukemias. Over 150 recurrent numerical and structural chromosomal changes have been reported in AML. Evaluation of cytogenetic analysis results of large patient series will help the genetic knowledge about AML formation to accumulate and also to define novel prognostic or diagnostic markers. Material and Method: In this study, cytogenetic analysis results obtained in accordance with standard cell culture protocol of peripheral blood or bone marrow samples of 417 patients diagnosed with AML archived in the Ankara University Medicine Faculty, Center for Genetic Diseases and Diagnosis were evaluated retrospectively. Results: After a detailed review of this series, a novel deletion and 13 different chromosomal rearrangements were shown for the first time along with known numerical and structural alterations for AML like t(15;17), t(16;16), t(8;21), del(11)(q), monosomy 7 and trisomy 8. Conclusion: In this paper, distribution of defined numerical and structural rearrangements and possible association of novel cytogenetic alterations with AML development were discussed. The break points we detected have been previously reported in different rearrangements of various malignancies. However, the arrangements detected in our series are with different combinations and lead to novel gene fusions. There are genes known to be associated or potentially associated with hematopoietic or lymphoid tissue malignancies in some of the break points detected, yet there are no defined genes for some.

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