scholarly journals Detection of Inter-chromosomal Stable Aberrations by Multiple Fluorescence In Situ Hybridization (mFISH) and Spectral Karyotyping (SKY) in Irradiated Mice

10.3791/55162 ◽  
2017 ◽  
Author(s):  
Rupak Pathak ◽  
Igor Koturbash ◽  
Martin Hauer-Jensen
Keyword(s):  
Spectral Karyotyping

scholarly journals ANALYSIS OF COMPLEX CHROMOSOMAL ABNORMALITIES IN A CASE OF MULTIPLE MYELOMA USING SPECTRAL KARYOTYPING

2018 ◽  
Vol 11 (9) ◽  
pp. 9
Author(s):  
Perumal Govindasamy ◽  
Pooja S Kulshreshtha ◽  
Prabu Pandurangan ◽  
Anil Tarigopula ◽  
Jayarama S Kadandale ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Chromosomal Abnormalities ◽  
Bone Marrow Cells ◽  
Spectral Karyotyping ◽  
Multicolor Fish ◽  
Genetic Abnormalities ◽  
Prognostic Outcome ◽  
Conventional Cytogenetics ◽  
Marrow Cells

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.

Identification of New Nonrandom Translocations in Multiple Myeloma With Multicolor Spectral Karyotyping

Blood ◽  
1998 ◽  
Vol 92 (11) ◽  
pp. 4269-4278 ◽  
Author(s):  
Jeffrey R. Sawyer ◽  
Janet L. Lukacs ◽  
Nikhil Munshi ◽  
K. Raman Desikan ◽  
Seema Singhal ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Bone Marrow ◽  
In Situ Hybridization ◽  
Chromosome Aberrations ◽  
Chromosome Morphology ◽  
Spectral Karyotyping ◽  
Chromosome Translocations ◽  
Igh Locus ◽  
Additional Chromosome

Multicolor spectral karyotyping (SKY) was performed on bone marrow samples from 50 patients with multiple myeloma (MM) in anticipation of discovering new previously unidentified translocations. All samples showed complex karyotypes with chromosome aberrations which, in most cases, were not fully characterized by G-banding. Patients of special interest were those who showed add(14)(q32), add(8)(q24) and those whose G-banding karyotypes showed poor chromosome morphology. Three new recurring chromosome translocations not previously reported in MM were identified. Two of the translocations involve recurring aberrations at band 14q32.3, the site of the IgH locus, with different exchange partners. The most frequently recurring rearrangement was a subtle translocation at 14q32.3 designated as a t(14;16)(q32;q22∼23), which was identified in six patients. A second and larger translocation at 14q32, identified in two patients, was designated as a t(9;14)(p13;q32), previously associated with Waldenstrom’s macroglobulinemia and lymphoplasmacytoid lymphoma. A third translocation, identified in two patients, involved a whole-arm t(6;8)(p10;q10) translocation. The SKY technique was able to refine the designations of over 156 aberrations not fully characterized by G-banding in this study and resolved additional chromosome aberrations in every patient studied except two. The t(14;16)(q32;q22∼23) identified by SKY in this study suggests this may be a frequent translocation in MM associated with complex karyotypes and disease progression. Therefore, the SKY technique provides a useful adjunct to routine G-banding and fluorescence in situ hybridization studies in the cytogenetic analysis of MM.

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