t(2;21)(q11;q22)
2010-04-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
T-cell acute lymphoblastic leukemia.
Phenotype stem cell origin
One case to date, a 6-year-old boy (Chinen et al., 2008).
Evolution
Complete remission was obtained. An allogenic bone marrow transplantation was performed, and the patient had remained in complete remission for 17 months at the time of the report.
Genes Involved and Proteins
Gene name
AFF3 (lymphoid nuclear protein related to AF4)
Location
2q11.2
Protein description
AFF3 belongs to a family of putative transcription factors also comprising AFF1 (AF4, FEL, MLLT2) in 4q21, AFF2 (FMR2, FRAXE) in Xq28 and AFF4 (AF5Q31) in 5q31. AFF3 has been found a susceptibility gene in autoimmune diseases, namely rheumatoid arthritis, psoriatic arthritis, and juvenile idiopathic arthritis (Barton et al., 2009; Castelino and Barton, 2010; Hinks et al., 2010). AFF3 is deleted in Nievergelt syndrome, an autosomal dominant mesomelic dysplasia (Steichen-Gersdorf et al., 2008). AFF3 was also found expressed in 20% of mammary tumor cells but not in normal acini in a study (To et al., 2005).
Gene name
RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location
21q22.12
Protein description
Transcription factor (activator) for various hematopoietic-specific genes.
Result of the Chromosomal Anomaly
Description
Fusion of RUNX1 exon 7 to AFF3 exon 8.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 19359276 | 2009 | Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes. | Barton A et al |
| 20084005 | 2010 | Genetic susceptibility factors for psoriatic arthritis. | Castelino M et al |
| 17968322 | 2008 | Identification of the novel AML1 fusion partner gene, LAF4, a fusion partner of MLL, in childhood T-cell acute lymphoblastic leukemia with t(2;21)(q11;q22) by bubble PCR method for cDNA. | Chinen Y et al |
| 20072139 | 2010 | Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis. | Hinks A et al |
| 18616733 | 2008 | Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. | Steichen-Gersdorf E et al |
| 15704140 | 2005 | LAF-4 is aberrantly expressed in human breast cancer. | To MD et al |
Citation
Jean-Loup Huret
t(2;21)(q11;q22)
Atlas Genet Cytogenet Oncol Haematol. 2010-04-01
Online version: http://atlasgeneticsoncology.org/haematological/1551/t(2
