Study of chromosomal rearrangement in leukemia patients using Karyotype and FISH methods

Introduction & Objectives: New reports of Leukemia (all types) in the American Cancer Society have estimated 24,500 deaths and 62,130 new cases per year. Cytogenetics chromosomal abnormalities was reports in cancer cells and also acute leukemia. To investigate chromosomal abnormalities, karyotyping and fluorescence in situ hybridization (FISH) methods performed on referred bone marrow samples.Materials & Methods: According to standard protocol, Bone marrow was cultured with specific culture media (Marromax), Slide preparation and with G.Banding method were stained and analyzed. Fluorescence in situ hybridization (FISH) testing was performed using a panel of Leukemia-associated probes from Metasystem company, to detect t(8;21), t(9;22), 20qter, 20q12, 5p15, 5q31 (EGR1 gene and CDC25C gene), 5q33 (RPS14) and chromosome 7 and 8 centromeres.Results: Karyotype analysis on 207 patients diagnosed leukemia performed in medical Genetics center of Genome, Isfahan, Iran. From these numbers 35 case had chromosomal abnormalities. Among this abnormalities 19 case had Translocations (t(8;21, t(9;22), t(2;10), t(1;1), t(15;17), t(12;16), t(3;3), t(6;11), t(1;7)), 2 case Deletion (Del 7q), 3 case Complex Karyotype, 5 case Aneuploidy and other cases such as (inv 16, MAR). Most abnormality related to t(9;22) and t(8;21) then Monosomy 7 and in 6 cases culture failed. FISH analysis on 48 samples 14 of these cases had chromosomal abnormality.Conclusion: One of the diagnostic ways of chromosomal abnormalities for early detection of cancer is karyotype and FISH methods. Although not all problems with leukemia are chromosomal abnormality, but molecular tests such as FLT3, NPM1, CEPA genes and related panels such as AML, CLL, CML, … help diagnosis. However, bone marrow karyotype is beneficial for diagnosis, using the FISH method, could be useful for clinical monitoring and It also helps with early diagnosis and appropriate treatment process and finally choice of suitable medicine.

کلیدواژه ها:

Chromosome abnormality ، bone marrow ، karyotype ، fluorescence in situ hybridization (FISH)