Download Leukaemia Section t(8;19)(p12;q13) Atlas of Genetics and Cytogenetics in Oncology and Haematology

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Leukaemia Section
Short Communication
t(8;19)(p12;q13)
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH)
Published in Atlas Database: January 2008
Online updated version: http://AtlasGeneticsOncology.org/Anomalies/t0819p12q13ID1203.html
DOI: 10.4267/2042/44408
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2009 Atlas of Genetics and Cytogenetics in Oncology and Haematology
These retroelements (RE) could be agents of genomic
instability. They can cause host DNA rearrangements
due to recombination events, by transduction of RE
flanking sequences into new genomic loci, by creating
pseudogenes, or by causing RNA recombination.
The HERV-K subgroup has been suspected to be
involved in cancer (including seminomas), autoimmune
diseases, and neuronal diseases such as schizophrenia.
Clinics and pathology
Disease
Acute myeloid leukemia, M0 type (M0 AML)
Epidemiology
Only one case to date, 70-year-old male patient.
Prognosis
Genes involved and proteins
Result of the chromosomal
anomaly
FGFR
Hybrid gene
Location
8p12
Protein
FGF receptor; membrane associated tyrosine kinase.
Signal transduction.
Description
5' sequences from an ERV element - 3' FGFR1 (starting
at exon 9).
The patient died 21 months after diagnosis.
Fusion protein
Description
Open reading frame from ERV sequences fused to part
of the juxtamembrane domain and the tyrosine kinaseencoding regions of the FGFR1 gene.
ERVK/HERV-K
Location
19q13
Note
ERVK/HERV-K are dissemninated throughout the
whole genome; one of these, located in 19q13, was
found implicated in the t(8;19).
Protein
ERV/HERV sequences are thousands of endo-genous
retroviruses. Most -if not all- are defective, containing
deletions or nonsense mutations. The ERVK/HERV-K
family is the most recently inserted family, after
chimpanzees and men
diverged. ERV element consists of two identical,
nontranslated long terminal repeats (LTRs) flanking an
internal region that encodes proteins required for viral
replication and assembly. Defective ERV have lost
their internal region and LTRs often remain solos.
Atlas Genet Cytogenet Oncol Haematol. 2009; 13(2)
References
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Griffiths DJ. Endogenous retroviruses in the human genome
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Birnbaum D, Pébusque MJ. Endogenous retroviral sequence is
fused to FGFR1 kinase in the 8p12 stem-cell myeloproliferative
disorder
with
t(8;19)(p12;q13.3).
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Huret JL
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This article should be referenced as such:
Huret JL. t(8;19)(p12;q13). Atlas Genet Cytogenet Oncol
Haematol. 2009; 13(2):134-135.
Buzdin A, Kovalskaya-Alexandrova E, Gogvadze E, Sverdlov
E. At least 50% of human-specific HERV-K (HML-2) long
terminal repeats serve in vivo as active promoters for host
nonrepetitive
DNA
transcription.
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Virol.
2006
Nov;80(21):10752-62
Atlas Genet Cytogenet Oncol Haematol. 2009; 13(2)
135