ANALYSIS OF COMPLEX CHROMOSOMAL ABNORMALITIES IN A CASE OF MULTIPLE MYELOMA USING SPECTRAL KARYOTYPING
DOI:
https://doi.org/10.22159/ajpcr.2018.v11i9.27133Keywords:
Chromosomal abnormalities, Interphase FISH, Multiple myeloma, Spectral karyotypingAbstract
Objective: It was proposed to determine the chromosomal abnormalities in a 49-year-old male patient with multiple myeloma (MM) employing both conventional and advanced molecular cytogenetic techniques.
Methods: GTG-banding and spectral karyotyping (SKY) on fixed metaphases obtained from LPS-stimulated bone marrow cells and interphase fluorescence in situ hybridization (iFISH) on unsorted marrow cells were carried out to identify genetic markers of prognostic significance.
Results: The abnormal chromosomes observed through conventional cytogenetics could be resolved with SKY technique. The translocation t(4;14) (p16;q32) indicating FGFR3/IGH fusion and deletion of 13q14.3 was noticed using iFISH. The genetic abnormalities confirmed a poor prognostic outcome in the patient who died within 6 months of diagnosis.
Conclusion: This report emphasizes the need for multicolor FISH techniques besides iFISH to resolve complex abnormalities and to identify cryptic aberrations of importance in risk stratification of MM patients.
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