| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
|
| --over
|
|
|
in acute myeloid leukemia |
| constitutional
|
|
| --low
|
|
|
by heavy methylation of the CpG islands in the promoter region was demonstrated in SSc scleroderma (systemic sclerosis) fibroblasts and skin biopsy specimens (epigenetic mechanisms may mediate the fibrotic manifestations of SSc) |
| tumoral
| fusion
|
|
|
|
|
with EWSR1, t(11;22)(q24;q12) in Ewing sarcoma, cancer-specific molecule that binds to RHA essential for the function of EWS-FLI1 (Erkizan 2009) |
| tumoral
|
|
| --low
|
|
|
in in metastatic melanoma (Torlakovic 2008) |
| tumoral
| fusion
|
|
|
|
fusion of SLC45A3 exon 1 with FLI1 exon 3 in prostate cancer  |
| tumoral
|
|
| --other
|
|
|
deregulation of ETS1 and FLI1 contributes to the pathogenesis of diffuse large B-cell lymphoma |
| constitutional
|
|
| --over
|
|
|
in 5q- syndrome protects megakaryocytic cells from ribosomal stress contrary to erythroid cells and contributes to effective though dysplastic megakaryopoiesis |
