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Transcript
Atlas of Genetics and Cytogenetics
in Oncology and Haematology
OPEN ACCESS JOURNAL AT INIST-CNRS
Leukaemia Section
Short Communication
t(2;21)(p11;q22)
Jean-Loup Huret
Genetics, Dept Medical Information, UMR 8125 CNRS, University of Poitiers, CHU Poitiers Hospital, F86021 Poitiers, France (JLH)
Published in Atlas Database: February 2003
Online updated version: http://AtlasGeneticsOncology.org/Anomalies/t0221p11q22ID1261.html
DOI: 10.4267/2042/37962
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2003 Atlas of Genetics and Cytogenetics in Oncology and Haematology
AML1
Clinics and pathology
Location
21q22
DNA/RNA
Transcription is from telomere to centromere
Protein
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.
Disease
M1 acute non lymhocytic leukemia (ANLL).
Etiology
No known prior exposure.
Epidemiology
Only one case to date, a 78 yr old male patient.
Prognosis
Death occurred during induction therapy.
References
Cytogenetics
Richkind K, Hromas R, Lytle C, Crenshaw D, Velasco J,
Roherty S, Srinivasiah J, Varella-Garcia M. Identification of two
new translocations that disrupt the AML1 gene. Cancer Genet
Cytogenet. 2000 Oct 15;122(2):141-3
Cytogenetics morphological
Sole anomaly in this patient.
Mathew S, Shurtleff SA, Raimondi SC. Novel cryptic, complex
rearrangements involving ETV6-CBFA2 (TEL-AML1) genes
identified by fluorescence in situ hybridization in pediatric
patients with acute lymphoblastic leukemia. Genes
Chromosomes Cancer. 2001 Oct;32(2):188-93
Genes involved and proteins
Note
The gene in 2p11 is yet unknown, and, because cryptic
t(12;21) ETV6 /AML1 are not rare, it is therefore
uncertain whether this translocation involve a new
AML1 partner.
Atlas Genet Cytogenet Oncol Haematol. 2003; 7(2)
This article should be referenced as such:
Huret JL. t(2;21)(p11;q22). Atlas Genet Cytogenet Oncol
Haematol. 2003; 7(2):117.
117
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