t(8;19)(p11;q13) ERVK-6/FGFR1

2008-01-01   Jean-Loup Huret 

1.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. , The HERV-K subgroup have been suspected to be involved in cancer (including seminomas), autoimmune diseases, and neuronal diseases such as schizophrenia.
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.

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.

Bibliography

Pubmed IDLast YearTitleAuthors
161601782005Genomewide 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
170412252006At 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
163066282005Identification of a functional envelope protein from the HERV-K family of human endogenous retroviruses.Dewannieux M et al
114230122001Endogenous retroviruses in the human genome sequence.Griffiths DJ et al
123935972003Endogenous 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
111221152000The 8p12 myeloproliferative disorder. t(8;19)(p12;q13.3): a novel translocation involving the FGFR1 gene.Mugneret F et al
172378202007Distinct 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)

External Links