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Del(5q) Deletion

Applications
haematology
Catalogue Numbers
LPH 024 (10 tests)
LPH 024-S (5 tests)

Deletion of a region of chromosome 5q, which includes the EGR1 gene, is one of the most common rearrangements in AML and MDS1,2.

The deletions are large, with breakpoints occurring between bands 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 5q31.12,3. Early Growth Response 1 (EGR1) maps to this band3 and loss of this 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 inhibitor-1 (SERPINE1 or PAI1). EGR1 dependent expression of TGFB1 inhibits human cancer cell growth in model cells4. In addition, EGR1 is required for p53-dependent apoptosis through the mediation of Retinoblastoma (RB1) protein5.

References

1. Boultwood J et al., Blood 2002;99(12):4638-41

2. Charrin C, Atlas Genet Cytogenet Oncol Haematol 1998;2(3):302-6

3. OMIM :http://omim.org/entry/153550

4. Liu C et al., Proc Natl Acad Sci USA 1996;93:11831-6

5. Das et al., J. Biol. Chem. 2001 276: 3279-3286

Microscope Images

Del 5q Deletion magnified
Area of Interest*
AML, MDS, MPN

Disclaimer

This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed haematological samples.

*Disease information supported by the literature and is not a reflection of the intended purpose of this product.