t(8;19)(p11;q13) ERVK-6/FGFR1
2008-01-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
Acute myeloid leukemia, M0 type (M0 AML)
Epidemiology
Only one case to date, 70-year-old male patient
Prognosis
The patient died 21 months after diagnosis
Genes Involved and Proteins
Gene name
FGFR1 (Fibroblast Growth Factor Receptor 1)
Location
8p11.23
Protein description
FGF receptor; membrane associated tyrosine kinase. Signal transduction.
Gene name
ERVK-6 (endogenous retrovirus group K member 6, envelope)
Location
7p22.1
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 description
ERV/HERV sequences are thousands of endogenous 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. 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.
Protein description
The HERV-K subgroup have been suspected to be involved in cancer (including seminomas), autoimmune diseases, and neuronal diseases such as schizophrenia.
Result of the Chromosomal Anomaly
Description
5 sequences from an ERV element - 3 FGFR1 (starting at exon 9)Open reading frame from ERV sequences fused to part of the juxtamembrane domain and the tyrosine kinase-encoding regions of the FGFR1 gene.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 16160178 | 2005 | Genomewide screening reveals high levels of insertional polymorphism in the human endogenous retrovirus family HERV-K(HML2): implications for present-day activity. | Belshaw R et al |
| 17041225 | 2006 | At least 50% of human-specific HERV-K (HML-2) long terminal repeats serve in vivo as active promoters for host nonrepetitive DNA transcription. | Buzdin A et al |
| 16306628 | 2005 | Identification of a functional envelope protein from the HERV-K family of human endogenous retroviruses. | Dewannieux M et al |
| 11423012 | 2001 | Endogenous retroviruses in the human genome sequence. | Griffiths DJ et al |
| 12393597 | 2003 | Endogenous retroviral sequence is fused to FGFR1 kinase in the 8p12 stem-cell myeloproliferative disorder with t(8;19)(p12;q13.3). | Guasch G et al |
| 11122115 | 2000 | The 8p12 myeloproliferative disorder. t(8;19)(p12;q13.3): a novel translocation involving the FGFR1 gene. | Mugneret F et al |
| 17237820 | 2007 | Distinct roles for LINE-1 and HERV-K retroelements in cell proliferation, differentiation and tumor progression. | Oricchio E et al |
Citation
Jean-Loup Huret
t(8;19)(p11;q13) ERVK-6/FGFR1
Atlas Genet Cytogenet Oncol Haematol. 2008-01-01
Online version: http://atlasgeneticsoncology.org/haematological/1203/t(8;19)(p11;q13)-ervk-6-fgfr1
