2010-04-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


T-cell acute lymphoblastic leukemia.

Phenotype stem cell origin

One case to date, a 6-year-old boy (Chinen et al., 2008).


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)
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))
Protein description
Transcription factor (activator) for various hematopoietic-specific genes.

Result of the Chromosomal Anomaly


Fusion of RUNX1 exon 7 to AFF3 exon 8.


Pubmed IDLast YearTitleAuthors
193592762009Identification 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
200840052010Genetic susceptibility factors for psoriatic arthritis.Castelino M et al
179683222008Identification 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
200721392010Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis.Hinks A et al
186167332008Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4.Steichen-Gersdorf E et al
157041402005LAF-4 is aberrantly expressed in human breast cancer.To MD et al


Jean-Loup Huret


Atlas Genet Cytogenet Oncol Haematol. 2010-04-01

Online version: http://atlasgeneticsoncology.org/haematological/1551/t(2;21)(q11;q22)