We applied HTFA analyses to 77 leukemia patients to determine unbalanced structural abnormalities and numerical abnormalities in 2010 and 2011 in the Medical Genetics Department of Kocaeli University Our findings represent one of the first observations related to HTFA of hematological malignancies.
We performed HTFA study on the bone marrow aspiration and peripheral blood samples of 77 patients (n=19 myelodysplastic syndrome [MDS], n=17 acute lymphoblastic leukemia [ALL], n=9 chronic myeloid leukemia [CML], n=32 acute myeloid leukemia [AML]) with hematological malignancies during the periods of initial diagnosis, treatment, and/or follow-up by the Hematology Department of Kocaeli University Age, sex, white blood cell count, hemoglobin, diagnosis, and Q-RT-PCR findings of patients with abnormal HTFA results are listed in the Table 1.
Table 1: Age, sex, WBC, diagnosis, Hgb, Q-RT-PCR and abnormal HTFA results of patients are listed.
All numerical and structural aberrations detected by HTFA and Q-RT-PCR are listed in the Table.
CML patients (n=9) did not show any aberration with HTFA. More than 1 aberration existed in 21 of 29 cases.
In this study, we aimed to examine the HTFA method's efficiency for detecting genetic aberrations, which are important for the diagnosis and prognosis of leukemia.
Of our patient group, 62% had normal HTFA results and 38% had numerical and structural chromosomal abnormalities.
All gains in the genome, such as duplications, triplications, or amplifications, were evaluated as duplications by HTFA. We detected duplicated chromosome regions in 12 patients and 4 of them had more than 1 duplication.
A considerable advantage of HTFA is that this method is able to identify and determine all duplicated regions and genes that exist on marker chromosomes.
In the HTFA results, there were no alterations in the breakpoints of chromosomes 9 and 22.