Multicolor spectral karyotyping identifies new recurring breakpoints and translocations in multiple myeloma Journal Article


Authors: Rao, P. H.; Cigudosa, J. C.; Ning, Y.; Calasanz, M. J.; Iida, S.; Tagawa, S.; Michaeli, J.; Klein, B.; Dalla-Favera, R.; Jhanwar, S. C.; Ried, T.; Chaganti, R. S. K.
Article Title: Multicolor spectral karyotyping identifies new recurring breakpoints and translocations in multiple myeloma
Abstract: Karyotypic information on multiple myeloma (MM) is less extensive than that on other myeloid or lymphoid malignancies due to low mitotic activity of plasma cells. An add(14)(q32) marker chromosome has been reported to be the most frequent recurring abnormality in clonally abnormal cases; in approximately one third of the latter cases, this marker has been identified as a der(14)t(11;14)(q13;q32) chromosome. To map chromosomal breakpoints, characterize the add(14)(q32) marker chromosomes, and to identify other recurring translocations in MM, we used spectral karyotyping (SKY) to analyze a panel of nine bone marrow (BM) biopsy samples from eight patients and 10 tumor cell lines derived from MM patients. SKY involves hybridization of 24 fluorescently labeled chromosome painting probes to metaphase spreads in such a manner that simultaneous visualization of each of the chromosomes in a different color is accomplished. By this method, it was possible to define all chromosomal rearrangements and identify all of the clonal marker chromosomes in tumor cells. By detailed mapping of breakpoints of rearrangement, it was also possible to identify several novel recurring sites of breakage that map to the chromosomal bands 3q27, 17q24-25, and 20q11. The partner chromosomes in translocations that generated the add (14)(q32) marker chromosomes were identified in all cases in which they were detected by G- banding (one biopsy and six cell lines). In addition, two new translocations involving band 14q32, ie, t(12;14)(q24;q32) and t(14;20)(q32;q11) have also been identified. These studies demonstrate the power of SKY in resolving the full spectrum of chromosome abnormalities in tumors.
Keywords: aged; aged, 80 and over; middle aged; human cell; multiple myeloma; bone marrow; biopsy; cancer genetics; fluorescence in situ hybridization; chromosome breakage; translocation, genetic; chromosome analysis; karyotyping; chromosome 12q; genetic markers; chromosome 14q; chromosome 20q; chromosome map; chromosomes, human, pair 20; chromosome banding; chromosomes, human, pair 12; chromosomes, human, pair 14; chromosome translocation 14; humans; human; male; female; priority journal; article; chromosome translocation 12; chromosome translocation 20
Journal Title: Blood
Volume: 92
Issue: 5
ISSN: 0006-4971
Publisher: American Society of Hematology  
Date Published: 1998-09-01
Start Page: 1743
End Page: 1748
Language: English
PUBMED: 9716604
PROVIDER: scopus
DOI: 10.1182/blood.V92.5.1743
DOI/URL:
Notes: Article -- Export Date: 12 December 2016 -- Source: Scopus
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MSK Authors
  1. Pulivarth H Rao
    66 Rao
  2. Raju S K Chaganti
    391 Chaganti
  3. Suresh C Jhanwar
    293 Jhanwar