Del(5q) Deletion Probe - Detail

Deletion of the long arm of chromosome 5 is the most common rearrangement in AML and MDS^1,2. Abnormalities of chromosome 5 are found in 42% of therapy related MDS.

The deletions are large with breakpoints occurring in bands between 5q11 and 5q35 and are usually interstitial. Two regions, 5q12-14 and 5q31-33 are hot spots for breakpoints but the common deleted region (CDR) in AML and aggressive MDS cases is within 5q31.1^2,3. Early Growth Response 1 (EGR1) maps to this band³ and loss of the gene may cause tumourigenesis in at least two ways. Firstly, EGR1 directly controls the expression of fibronectin (FN1) through pathways that involve TGFB1 and plasminogen activator-1 (PAI1). Together FN1 and PAI1 inhibit cancer cell growth⁴. In addition, EGR1 is required for p53-dependent apoptosis through the mediation of Retinoblastoma (RB).

Reference:/Bibliographie/Literatur/Bibliografia

1. Boultwood J, et al., Blood (2002), vol 99 (12) 4638-4641.
2. Charrin C., Atlas Genet Cytogenet Oncol Haematol, March 1998.
3. McKusick V, Rasooly R., OMIM last edited 2002.
4. Liu C, et al., Proceedings of the National Academy of Sciences (1996) 93:11831-11836.