Download Leukaemia Section t(3;21)(q26;q22) 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(3;21)(q26;q22)
Jean-Loup Huret, François Desangles
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH); Laboratoire de Biologie, Hôpital du Val de Grâce, 75230 Paris, France (FD)
Published in Atlas Database: January 1998
Online version is available at: http://AtlasGeneticsOncology.org/Anomalies/t0321.html
DOI: 10.4267/2042/32105
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
Identity
t(3;21)(q26;q22) G-banding (top left) - Courtesy Diane H. Norback, Eric B. Johnson, and Sara Morrison-Delap, Cytogenetics at the
Waisman, and R-banding (bottom left) with diagrams - courtesy Peter Meeus.
Clinics and pathology
Epidemiology
Disease
Clinics
CML-BC of myeloid type (as far as 1% of cases);
ANLL and MDS, often therapy related.
May be secondary
antitopoisomerase II.
Phenotype / cell stem origin
Cytology
>1% of ANLL; all ages represented.
toxic
exposure,
as
to
Presence of micromegakarycytes, both in BC-CML and
MDS/ANLL cases; low platelet count and
dysmyelopoiesis in MDS/ANLL cases.
No FAB specificity.
Atlas Genet Cytogenet Oncol Haematol. 1998; 2(1)
to
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t(3;21)(q26;q22)
Huret JL, Desangles F
Prognosis
Fusion protein
Poor survival.
Description
AML1-EVI1: 180 kDa; breakpoint after exon 5 or 6 in
AML1, at the very 5' end of EVI1 → translocation
protein includes N-term AML1 with the Runt domain
and most of the gene EVI1, from the second
untranslated exon to C-term, which includes the 2 zinc
fingers.
Genes involved and Proteins
EVI1
Location: 3q26
Note: or EAP (129 amino acids; putative nuclear
localization signal) and/or MDS1 (rich in: proline,
serine, and acidic residues), both also in 3q26.
Oncogenesis
Chimeric transcription factor with the dual functions of
AML1 and EVI1: differentiation block (due to Runt)
and stimulation of proliferation (from the zn fingers).
AML1
Location: 21q22
DNA / RNA
References
Transcription is from telomere to centromere.
Protein
Horsman DE, Gascoyne RD, Barnett MJ. Acute leukemia with
structural rearrangements of chromosome 3. Leuk Lymphoma
1995 Feb;16(5-6):369-77. (Review).
Contains a Runt domain and, in the C-term, a
transactivation domain; forms heterodimers; widely
expressed; nuclear localisation; transcription factor
(activator) for various hematopoietic-specific genes.
Nucifora G, Rowley JD. AML1 and the 8;21 and 3;21
translocations in acute and chronic myeloid leukemia. Blood
1995 Jul 1;86(1):1-14. (Review).
Secker-Walker LM, Mehta A, Bain B. Abnormalities of 3q21
and 3q26 in myeloid malignancy: a United Kingdom Cancer
Cytogenetic Group study. Br J Haematol 1995 Oct;91(2):490501.
Results of the chromosomal
anomaly
Lo Coco F, Pisegna S, Diverio D. The AML1 gene: a
transcription factor involved in the pathogenesis of myeloid and
lymphoid leukemias. Haematologica 1997 May-Jun;82(3):36470. (Review).
Hybrid gene
Description
Fusion gene: on the der(3); 5' AML1 - 3' EVI1 (or 5'
AML1 - 3' EAP/MDS1).
Mitani K. Molecular mechanism of blastic crisis in chronic
myelocytic leukemia. Leukemia 1997 Apr;11 Suppl 3:503-5.
This article should be referenced as such:
Huret JL, Desangles F. t(3;21)(q26;q22).
Cytogenet Oncol Haematol.1998;2(1):24-25.
Atlas Genet Cytogenet Oncol Haematol. 1998; 2(1)
25
Atlas
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