Deletions of the long arm of chromosome 20 are a common chromosomal abnormality associated with myeloid malignancies, in particular myeloproliferative disorders (MPD), myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML)1. The deletions are predominantly interstitial2.
Often other cytogenetic abnormalities are present such as del(5q), -7/del(7q), +8, del(18q), +21 and rearrangements of 13q. Due to the relatively small size of the deletion and the lack of banding features on chromosome 20, FISH is particularly useful in detecting this abnormality. The prognosis for MDS cases where del(20q) is the sole abnormality is good. However if secondary abnormalities are present, a poor outcome is indicated3. AML patients respond poorly to treatment and have reduced survival rates. The clinical outcome for MPD patients remains unchanged in the presence of the abnormality4.
The mechanism of leukaemogenesis associated with del(20q) is unknown, however, deletion of a tumour suppressor gene (TSG) is thought to cause the increased proliferation of the cancer cells4. Using RT-PCR analysis, Bench et al identified potential target genes in the region of overlap between the AML/MDS and MPD CDR at band 20q12. Five genes were expressed in both bone marrow and CD34 positive cells. Of the three previously identified genes, L(3)MBT regulates chromatin structure during mitosis, SFRS6 encodes a serine rich protein important to regulation of alternative splicing of mRNA, and MYBL2, a member of the MYB transcription factor family, is involved in cell cycle control5,6,7.
1. Březinová et al., 2005:160(2):188-192
2. MacKinnon et al., Cancer Genet. 2011 Mar;204(3):153-61
3. Liu et al., Cancer Genet Cytogenet. 2006 Nov;171(1):9-16
4. Bilhou-Nabera, del(20q) in myeloid malignancies. Atlas Genet Cytogenet Oncol Haematol 2000
5. Bench et al., Oncogene 2000;19(34):3902-13
6. Li J et al., PNAS 2004;101:7341-67.
7. Wang et al., Genomics 1999;59:275-81
- Area of Interest*
- AML, MDS, MPN
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.