| Written | 2010-04 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
| ICD-Morpho | 9837/3 T lymphoblastic leukaemia/lymphoma |
| Atlas_Id | 1551 |
| Clinics and Pathology |
| Disease | T-cell acute lymphoblastic leukemia. |
| Phenotype / cell stem 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. |
| Cytogenetics |
| Additional anomalies | A complex karyotype was found. |
| Genes involved and Proteins |
| Gene Name | AFF3 |
| Location | 2q11.2 |
| Protein | 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 |
| Location | 21q22.3 |
| Protein | Transcription factor (activator) for various hematopoietic-specific genes. |
| Result of the chromosomal anomaly |
| Description | Fusion of RUNX1 exon 7 to AFF3 exon 8. |
| To be noted |
| Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. | |
| Case Report | Second case of t(2;21)(q11.2;q22.3) in a child with T-cell acute lymphoblastic leukemia |
| Bibliography |
| 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, Eyre S, Ke X, Hinks A, Bowes J, Flynn E, Martin P; YEAR Consortium; BIRAC Consortium, Wilson AG, Morgan AW, Emery P, Steer S, Hocking LJ, Reid DM, Harrison P, Wordsworth P, Thomson W, Worthington J. |
| Hum Mol Genet. 2009 Jul 1;18(13):2518-22. Epub 2009 Apr 9. |
| PMID 19359276 |
| Genetic susceptibility factors for psoriatic arthritis. |
| Castelino M, Barton A. |
| Curr Opin Rheumatol. 2010 Mar;22(2):152-6. |
| PMID 20084005 |
| 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, Taki T, Nishida K, Shimizu D, Okuda T, Yoshida N, Kobayashi C, Koike K, Tsuchida M, Hayashi Y, Taniwaki M. |
| Oncogene. 2008 Apr 3;27(15):2249-56. Epub 2007 Oct 29. |
| PMID 17968322 |
| Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis. |
| Hinks A, Eyre S, Ke X, Barton A, Martin P, Flynn E, Packham J, Worthington J; Childhood Arthritis Prospective Study; UKRAG Consortium; BSPAR Study Group, Thomson W. |
| Genes Immun. 2010 Mar;11(2):194-8. Epub 2010 Jan 14. |
| PMID 20072139 |
| Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. |
| Steichen-Gersdorf E, Gassner I, Superti-Furga A, Ullmann R, Stricker S, Klopocki E, Mundlos S. |
| Clin Genet. 2008 Dec;74(6):560-5. Epub 2008 Jun 23. |
| PMID 18616733 |
| LAF-4 is aberrantly expressed in human breast cancer. |
| To MD, Faseruk SA, Gokgoz N, Pinnaduwage D, Done SJ, Andrulis IL. |
| Int J Cancer. 2005 Jul 1;115(4):568-74. |
| PMID 15704140 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(2;21)(q11;q22) |
| Atlas Genet Cytogenet Oncol Haematol. 2011;15(1):84-85. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t0221q11q22ID1551.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(2;21)(q11;q22) | |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:22:56 CEST 2017 |
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