Resolving dilemma of normal cytogenetic findings in hematological disorders with fluorescence in situ hybridization (FISH) assays.

• Main Author: Ng, Yit Jun.
• Other Authors: School of Biological Sciences
• Format: Final Year Project
• Language: English
• Published: 2010
• Subjects: DRNTU::Science::Chemistry::Biochemistry::Spectroscopy
• Online Access: http://hdl.handle.net/10356/39594
• Institution: Nanyang Technological University

Hematological disorders are a type of cancer of the blood that has been on a gradual increase. Appropriate methods to provide a correct diagnosis and prognosis are issues of concern. Cytogenetic analysis has been considered a good diagnostic tool in this context. However, there have been inconsistencies with bone marrow (BM) findings in that while BM findings indicated a disorder in keeping with a particular disease, the cytogenetic results were completely normal. This has been unhelpful to patient management. Thus, other diagnostic methods are required to resolve the dilemma. This project was carried out using Fluorescence In Situ Hybridization (FISH) assays to resolve the limitations of cytogenetics. Thirty HD patient cases were investigated, including cases of Acute Lymphoblastic Leukemia (ALL), Acute Myelogenous Leukemia (AML), Chronic Myelogenous Leukemia (CML), Multiple Myeloma (MM), Chronic Lymphocytic Leukemia (CLL), and Myelodyplastic Syndrome (MDS). FISH was conducted on BM samples using locus specific disease-related and centromeric probes. Eight out of the 30 cases had a positive FISH result, giving a 26.7% detection rate. An expanded arm of the project to resolve the nature of Non-Clonal Abnormal Cells (NCACs) was eventually carried out on only 1 out of 10 cases highlighted. An abnormal clone was determined by FISH to have del17p. The study concludes that FISH should be used as an adjunct to cytogenetic studies, especially when the latter is normal but the BM finding is in keeping with a hematological disorders.