13q14.3 Deletion LPH006 - Detail

Deletions in 13q14 are observed in over 20% of B-cell Chronic Lymphocytic Leukaemia patients who show cytogenetic aberrations using conventional cytogenetics: a further 20% have microscopic deletions and another 10% homozygous loss^1,2 . In recent studies using FISH for this region however, up to 64% of cases have been shown to be deleted and these deletions are believed to be the primary event in BCLL^3,4. Patients deleted for this region have a similar prognosis to patients with a normal karyotype so knowledge of the deletion status of the patient has significant prognostic implications. The deletions are large, 2Mb, with the critical region lying telomeric to the Retinoblastoma gene, RB-1, and flanked by the markers D13S273 and D13S25. CLL patients with a 13q14.3 deletion have a better prognosis than patients with trisomy 12. A candidate tumour suppressor gene, DLEU1, is strongly implicated in this region ^5,6.

The 13q14.3 deletion probe is approximately 400kb and covers the region 100kb centromeric to D13S319 through to the marker D13S25. It is labelled in red. The subtelomere specific probe at 13qter (clone 163C9) is labelled in green and allows identification of chromosome 13, acting as a control probe.

Reference:/Bibliographie/Literatur/Bibliografia

1. Merup et al., 1998. Leukaemia 12(5) 705-9
2. Corcoran et al., 1998. Blood. 91(4) 1382-90
3. Dohner et al., 2000. The New England Journal of Medicine. 343(26) 1910-1916
4. Dewald et al., 2003. British Journal of Haematology. 121(2) 287-95
5. Liu et al., 1997. Oncogene 15(20) 2463-2473
6. Kapanadze et al., 1998. FEBS Letters 426 266-70