A Cytogeneticist’s quandary - chromosome abnormalities detected by cytogenetic studies on hematological specimens: is it acquired or constitutional?

• Main Author: Yao, Siwei.
• Other Authors: Lim, Alvin Soon Tiong
• Format: Final Year Project
• Language: English
• Published: 2013
• Subjects: DRNTU::Science
• Online Access: http://hdl.handle.net/10356/52702
• Institution: Nanyang Technological University

Conventional cytogenetics is a useful diagnostic and prognostic tool for hematological disorders. The abnormal karyotypes observed in hematological disorders are not necessarily due to an acquired disease state but could reflect a constitutional chromosomal aberration. The suspicion of a constitutional abnormality arises when the same chromosomal aberration appears in all cells analyzed in the bone marrow. However, a further correlation with a cytogenetic analysis of the peripheral blood, bone marrow or flow cytometry report that the marrow is in remission is needed to rule out the probability of an acquired abnormality. In this study, only a limited data is available as only 32.5% of the cases understudy were confirmed with a constitutional follow-up study. This emphasizes the importance of peripheral blood follow-ups. It is important for the disease state of the hematological disorder to be determined as treatment is highly dependent on it. Acquired chromosomal aberrations are found to be involved in the pathogenesis of the hematological disorder and treatments targeting them have proved to be effective as seen in the Chronic Myeloid Leukemia (CML) cases. This study also investigated the association between constitutional karyotypes and specific hematological disorders and concludes that larger prospective studies need to be performed.