ABSTRACT

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.

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.

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.

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.

Keywords: Acute Myeloid Leukemia, AML, Chromosomal Rearrangements