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t(5;14)(q35;q32) BCL11B/TLX3

Written2002-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2002-06Roland Berger
Inserm U 434 and SD 401 No. 434 CNRS, Institut de Génétique Moléculaire, 27, rue Juliette Dodu, 75010 Paris, France

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Atlas_Id 1227
  t(5;14)(q35;q32) FISH - Courtesy Melanie Zenger and Claudia Haferlach.

Clinics and Pathology

Disease T cell acute lymphoblastic leukemia (ALL)
Phenotype / cell stem origin cortical T cell leukemia (CD1a+,CD10+)
Epidemiology frequent in T-cell ALL in children (in about 20% of childhood T-cell ALLs); less frequent in adult T-ALL. Not seen in B-cell ALL
Cytology FAB nomenclature: L1 or L2 ALL
Prognosis present data suggest that t(5;14)(q35;q32) is associated with poor outcome, but confirmatory data is necessary prior to conclude


Cytogenetics Morphological Cryptic translocation (banded karyotype). Often apparently normal karyotype with banding techniques.
Cytogenetics Molecular t(5;14)(q35;q32) can be detected with FISH techniques. Several probes may be used: chromosome painting, combination of painting probes and YAC, multicolor-FISH with adequate probes. The localization of the chromosomal breakpoint with BACs/PACs will be performed in a second step.
Additional anomalies variable

Genes involved and Proteins

Note The consequence of the translocation is the ectopic expression of the HOX11L2, gene normally located to 5q35, and normally not expressed in ALL without 5q rearrangement. The "deregulation" of HOX11L2 expression is thought to result from abnormal control of the gene by CTPI2, located to 14q32, as a consequence of the chromosomal rearrangement. The chromosome 5 breakpoint is usually located within the locus of another gene, RanBP17, often disrupted by the chromosomal rearrangement. The breakpoint on chromosome 5 is consequently distant from the gene abnormally expressed (HOX11L2).
Gene Name TLX3
Location 5q35
Protein homeobox domain; belongs to HOX 11 family

Result of the chromosomal anomaly

Fusion Protein
Description no fusion protein, but abnormal expression of HOX11L2
Oncogenesis HOX11L2 is transcriptionally activated, due to control by CITP2 regulatory sequences.


A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia.
Bernard OA, Busson-LeConiat M, Ballerini P, Mauchauffˆ© M, Della Valle V, Monni R, Nguyen Khac F, Mercher T, Penard-Lacronique V, Pasturaud P, Gressin L, Heilig R, Daniel MT, Lessard M, Berger R
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2001 ; 15 (10) : 1495-1504.
PMID 11587205
Translocation t(5;14)(q35;q32) in three cases of childhood T cell acute lymphoblastic leukemia: a new recurring and cryptic abnormality.
Hˆ©lias C, Leymarie V, Entz-Werle N, Falkenrodt A, Eyer D, Costa JA, Cherif D, Lutz P, Lessard M
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2002 ; 16 (1) : 7-12.
PMID 11840257
Gene expression signatures define novel oncogenic pathways in T cell acute lymphoblastic leukemia.
Ferrando AA, Neuberg DS, Staunton J, Loh ML, Huard C, Raimondi SC, Behm FG, Pui CH, Downing JR, Gilliland DG, Lander ES, Golub TR, Look AT
Cancer cell. 2002 ; 1 (1) : 75-87.
PMID 12086890
HOX11L2 expression defines a clinical subtype of pediatric T-ALL associated with poor prognosis.
Ballerini P, Blaise A, Busson-Le Coniat M, Su XY, Zucman-Rossi J, Adam M, van den Akker J, Perot C, Pellegrino B, Landman-Parker J, Douay L, Berger R, Bernard OA
Blood. 2002 ; 100 (3) : 991-997.
PMID 12130513


This paper should be referenced as such :
Berger, R
Atlas Genet Cytogenet Oncol Haematol. 2002;6(4):293-294.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Huret, JL. t(5;14)(q35;q32). Atlas Genet Cytogenet Oncol Haematol. 2002;6(2):132-133.

Other genes implicated (Data extracted from papers in the Atlas)

Genes BCL11B TLX3 VRK1

Translocations implicated (Data extracted from papers in the Atlas)

 t(5;14)(q35;q32) BCL11B/TLX3

External links

Mitelman databaset(5;14)(q35;q32) [Case List]    t(5;14)(q35;q32) [Association List] Mitelman database (CGAP - NCBI)
Disease databaset(5;14)(q35;q32) BCL11B/TLX3
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

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indexed on : Sat Nov 28 14:47:27 CET 2015

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