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Written2010-04Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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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.


Additional anomalies A complex karyotype was found.

Genes involved and Proteins

Gene NameAFF3 (lymphoid nuclear protein related to AF4)
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 NameRUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location 21q22.12
Protein Transcription factor (activator) for various hematopoietic-specific genes.

Result of the chromosomal anomaly

Hybrid gene
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


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


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2011;15(1):84-85.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaset(2;21)(q11;q22)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9837/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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