| CASE REPORT |
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| Year : 2013 | Volume
: 19
| Issue : 1 | Page : 96-100 |
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A novel deletion cluster at 13q14.2-q21.33 in an 80-year man with late onset leukemia: Clinical and molecular findings
Kiran Kumar1, Sujit Maiti1, Christina A Castellani1, Richard O'Reilly2, Shiva M Singh3
1 Department of Biology, Molecular Genetics Unit, The University of Western Ontario, London, ON, Canada
2 Department of Psychiatry and London Health Sciences Center, London, ON, Canada
3 Department of Biology, Molecular Genetics Unit, The University of Western Ontario; Department of Psychiatry and London Health Sciences Center, London, ON, Canada
Correspondence Address:
Shiva M Singh
Department of Biology, Molecular Genetics Unit, The University of Western Ontario, Richmond Street, London, ON, N6A 5B7
Canada
 Source of Support: Canadian Institute of Health Research and Schizophrenia Society of Ontario., Conflict of Interest: None
DOI: 10.4103/0971-6866.112916
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Chromosomal deletions are among the most common genetic events observed in hematologic malignancies; loss of genetic material is regarded as a hallmark of putative tumor suppressor gene localization. We have identified an unusual cluster of deletions at 13q14.2-13q21.33 in an 80-year-old father of a monozygotic twin pair discordant for schizophrenia, who developed chronic leukemia (CLL) at age 69.
Materials and Methods: The breakpoints for individual deletions in this cluster was identified by Affymetrix Human Array 6.0 screening.
Results: The deleted segments harbours a number of genes, most associated with cancer as well as a high concentration of LINEs, SINEs and related repeats. The derived chromosome represents an intra-chromosomal re-arrangement that quickly overtook blood progenitor cells probably before age 69 as a cause of CLL.
Conclusions: The study highlights the role of ongoing de novo changes at susceptible sites, such as repeat rich regions, in the human genome. Also, it argues for the involvement of genes/deletions in the 13q(14.2-21.33) region in the development of CCL. |
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