Retrospective evaluation of chromosome 1 anomalies in hematologic malignancies: A single center study

Abstract

Various anomalies of chromosome 1 which is the largest chromosome of the human karyotype were found in various hematologic diseases. In this retrospective study, clinical features and cytogenetic anomalies of 35 hematological patients with various chromosome 1 anomalies were correlated. Also the effect of chromosome 1 anomalies to the disease prognosis of those patients was discussed. Conventional cytogenetic analysis of those patients was performed by investigating metaphases of 24 hours stimulated bone marrow samples. After cell culturing, the samples were treated with trypsin and stained with Giemsa (GTG Banding). Analyses were performed on image analysis system. Chromosome 1 anomalies were determined in 35 patients (0.5 %) among 6865 samples having done their conventional bone marrow cytogenetic analysis in our center between January 2008 and March 2016. The ratio of chromosome 1 anomalies of totally 701 anomalies among 6865 patients was 4.9%. Chromosome 1 anomalies were found mostly in patients with Multiple Myeloma (MM), Myelodysplastic syndrome (MDS) and Acute Myeloid Leukemia (AML) in our study group. The most common anomaly was deletion 1 which was seen in 16 (37%) patients. Second most common anomaly was derivation 1 which was seen in 13 (30%) patients. Also translocations between chromosome 1 and other chromosomes were observed. The genetic aberration formed as a result of chromosomal anomalies result in the formation of hematologic malignancies. The effect on disease pathogenesis and prognosis of some of those anomalies are unknown and have to be investigated and determined.

Keywords

• Chromosome 1
• hematologic malignancies
• translocations