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

Written2008-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9967/3 Myeloid and lymphoid neoplasms with FGFR1 rearrangement
Atlas_Id 1203

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
Location 8p12
Protein FGF receptor; membrane associated tyrosine kinase. Signal transduction.
Gene Name ERVK-6
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 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.
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

Hybrid gene
Description 5' sequences from an ERV element - 3' FGFR1 (starting at exon 9)
  
Fusion Protein
Description Open reading frame from ERV sequences fused to part of the juxtamembrane domain and the tyrosine kinase-encoding regions of the FGFR1 gene.
  

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.

Bibliography

Genomewide screening reveals high levels of insertional polymorphism in the human endogenous retrovirus family HERV-K(HML2): implications for present-day activity.
Belshaw R, Dawson AL, Woolven-Allen J, Redding J, Burt A, Tristem M
Journal of virology. 2005 ; 79 (19) : 12507-12514.
PMID 16160178
 
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, Kovalskaya-Alexandrova E, Gogvadze E, Sverdlov E
Journal of virology. 2006 ; 80 (21) : 10752-10762.
PMID 17041225
 
Identification of a functional envelope protein from the HERV-K family of human endogenous retroviruses.
Dewannieux M, Blaise S, Heidmann T
Journal of virology. 2005 ; 79 (24) : 15573-15577.
PMID 16306628
 
Endogenous retroviruses in the human genome sequence.
Griffiths DJ
Genome biology. 2001 ; 2 (6) : page REVIEWS1017.
PMID 11423012
 
Endogenous retroviral sequence is fused to FGFR1 kinase in the 8p12 stem-cell myeloproliferative disorder with t(8;19)(p12;q13.3).
Guasch G, Popovici C, Mugneret F, Chaffanet M, Pontarotti P, Birnbaum D, Pébusque MJ
Blood. 2003 ; 101 (1) : 286-288.
PMID 12393597
 
The 8p12 myeloproliferative disorder. t(8;19)(p12;q13.3): a novel translocation involving the FGFR1 gene.
Mugneret F, Chaffanet M, Maynadié M, Guasch G, Favre B, Casasnovas O, Birnbaum D, Pébusque MJ
British journal of haematology. 2000 ; 111 (2) : 647-649.
PMID 11122115
 
Distinct roles for LINE-1 and HERV-K retroelements in cell proliferation, differentiation and tumor progression.
Oricchio E, Sciamanna I, Beraldi R, Tolstonog GV, Schumann GG, Spadafora C
Oncogene. 2007 ; 26 (29) : 4226-4233.
PMID 17237820
 

Citation

This paper should be referenced as such :
Huret, JL
t(8;19)(p12;q13)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(2):134-135.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0819p12q13ID1203.html


Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes FGFR1

Translocations implicated (Data extracted from papers in the Atlas)

 t(8;19)(p11;q13) ERVK-6/FGFR1

External links

Mitelman databaset(8;19)(p11;q13) [Case List]    t(8;19)(p11;q13) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9967/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(8;19)(p11;q13) ERVK-6/FGFR1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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