Download Leukaemia Section t(6;9)(p23;q34) Atlas of Genetics and Cytogenetics in Oncology and Haematology

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
OPEN ACCESS JOURNAL AT INIST-CNRS
Leukaemia Section
Mini Review
t(6;9)(p23;q34)
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Published in Atlas Database: January 1998
Online version is available at: http://AtlasGeneticsOncology.org/Anomalies/t0609.html
DOI: 10.4267/2042/32108
This work is licensed under a Creative Commons Attribution-Non commercial-No Derivative Works 2.0 France Licence.
© 1998 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Phenotype / cell stem origin
Identity
M2, M4 ANLL, often preceded by MDS;
M1 ANLL or RAEB at times;
May be secondary to toxic exposure;
A primitive myeloid progenitor is likely to be involved.
Epidemiology
1% of ANLL;
Found at any age, but median age (25-30 yrs) is less
than usual in ANLL;
Rare in the elderly;
Sex ratio: 1M/1F;
Blood data: marked basophilia (> 1% of nucleated
cells) in one third to half of the patients.
Cytology
TdT +; Auer rods.
Prognosis
Remission difficult to obtain; CR in only half cases;
median survival around 1 yr.
Cytogenetics
Cytogenetics, morphological
May be over loocked.
Additional anomalies
Most often none (80%); recurrent, although rare,
additional anomalies are: +8, +13, +21.
Variants
Three way complex t(6;9;Var) exist.
Genes involved and Proteins
t(6;9)(p23;q34) G-banding - Courtesy Diane H. Norback, Eric B.
Johnson, Sara Morrison-Delap Cytogenetics at the Waisman
Center (top and middle top), Jean-Luc Lai (middle below), and
Roland Berger (below).
DEK
Location: 6p23
Protein
Clinics and pathology
Contains acidic domains and a nuclear localisation
signal; DNA binding protein; transcriptional regulation
and signal transduction.
Disease
ANLL and/or MDS.
Atlas Genet Cytogenet Oncol Haematol. 1998; 2(1)
29
t(6;9)(p23;q34)
Huret JL
The translocation t(6;9)(p23;q34) results in the formation of a chimeric fusion gene: DEK (6q23) and CAN (9q34). CAN is a putative
oncogene which may be activated by fusion of its 3' end to other genes than DEK. One such recently reported gene is called SET and
leads to expression of a SET/CAN fusion RNA. The t(6;9)(p21-22;q34) may be seen in either AML M2 or less frequently in M4 or MDS
and acute myelofibrosis often in association with excess basophils. The t(6;9) is reported mostly in young adults. The prognosis of
patients carrying the t(6;9) is unfavorable - Courtesy Georges Flandrin, CD-ROM AML/MDS G.Flandrin/ICG. TRIBVN.
CAN
Detection protocol
Location: 9q34
RNA-PCR.
Protein
Fusion protein
Contains dimerization domains → forms homodimers;
nuclear membrane localisation; associated with the
nuclear pore complex.
Description
Results of the chromosomal
anomaly
Expression localisation
165 kDa; N-term with almost the entire DEK protein
fused to the C-terminal two-thirds of the CAN protein.
Nuclear localisation.
References
Hybrid gene
Pearson MG, Vardiman JW, Le Beau MM, Rowley JD,
Schwartz S, Kerman SL, Cohen MM, Fleischman EW,
Prigogina EL. Increased numbers of marrow basophils may be
associated with a t(6;9) in ANLL. Am J Hematol 1985
Apr;18(4):393-403.
Description
5' DEK - 3' CAN on der(6);
Head to tail DEK/CAN fusion gene (SET/CAN
exceptional); breakpoint clusters in a single intron of 8
kb (ICB9: 'intron containing breakpoint 9') in CAN,
and in a single intron (of 12 kb) as well (ICB6) in
DEK.
von Lindern M, Poustka A, Lerach H, Grosveld G. The (6;9)
chromosome translocation, associated with a specific subtype
of acute nonlymphocytic leukemia, leads to aberrant
transcription of a target gene on 9q34. Mol Cell Biol 1990
Aug;10(8):4016-26.
Transcript
Soekarman D, von Lindern M, van der Plas DC, Selleri L,
Bartram CR, Martiat P, Culligan D, Padua RA, Hasper-Voogt
5.5 kb RNA; no CAN-DEK reciprocal transcript on
chromosome 9.
Atlas Genet Cytogenet Oncol Haematol. 1998; 2(1)
30
t(6;9)(p23;q34)
Huret JL
KP, Hagemeijer A, et al. Dek-can rearrangement in
translocation (6;9)(p23;q34). Leukemia 1992 Jun;6(6):489-94.
Fornerod M, Boer J, van Baal S, Morreau H, Grosveld G.
Interaction of cellular proteins with the leukemia specific fusion
proteins DEK-CAN and SET-CAN and their normal
counterpart, the nucleoporin CAN. Oncogene 1996 Oct
17;13(8):1801-8.
von Lindern M, Fornerod M, Soekarman N, van Baal S, Jaeglé
M, Hagemeijer A, Bootsma D, Grosveld G. Translocation t(6;9)
in acute non-lymphocytic leukaemia results in the formation of
a DEK-CAN fusion gene. Baillieres Clin Haematol 1992
Oct;5(4):857-79. (Review).
This article should be referenced as such:
Huret JL. t(6;9)(p23;q34). Atlas Genet Cytogenet Oncol
Haematol.1998;2(1):29-31.
Lillington DM, MacCallum PK, Lister TA, Gibbons B.
Translocation t(6;9)(p23;q34) in acute myeloid leukemia
without myelodysplasia or basophilia: two cases and a review
of the literature. Leukemia 1993 Apr;7(4):527-31. (Review).
Atlas Genet Cytogenet Oncol Haematol. 1998; 2(1)
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