Improving detection of chromosomal abnormalities in multiple myeloma using fluorescence in situ hybridization

Multiple myeloma (MM) cells are hypoproliferative and thus 70% of MM cases are not detected in conventional cytogenetic (CC) that analyses chromosomal abnormality in metaphase cells. In addition, microdeletions such as del13q14 and telomeric translocations such as t(14;16)(q32;q23) are difficult to detect due to the low resolution of G-banding method used in CC. D13S319/LAMP1 and IGH@/MAF, interphase FISH probes for del13q14 and t(14;16)(q32;q23) respectively, are used in this study to detect multiple myeloma cells in bone marrow aspirate of 20 patients. While CC could not detect del13q14 and t(14;16)(q32;q23) in any of the 20 patients, interphase FISH detected these chromosomal abnormalities in half (10/20) of the patients. This study confirms that interphase FISH significantly increases the detection rate of chromosomal abnormalities in multiple myeloma.Bachelor of Science in Biological Science