| 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 | FGFR |
| Location | 8p12 |
| Protein | FGF receptor; membrane associated tyrosine kinase. Signal transduction. |
| Gene Name | 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 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 |
| Description | 5' sequences from an ERV element - 3' FGFR1 (starting at exon 9) |
| Description | Open reading frame from ERV sequences fused to part of the juxtamembrane domain and the tyrosine kinase-encoding regions of the FGFR1 gene. |
| External links |
| Other database | t(8;19)(p12;q13) | Mitelman database (CGAP - NCBI) | |
| Other database | t(8;19)(p12;q13) | CancerChromosomes (NCBI) |
| 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 |
| The 8p12 myeloproliferative disorder. t(8;19)(p12;q13.3): a novel translocation involving the FGFR1 gene. |
| Mugneret F, Chaffanet M, Maynadiˆ© M, Guasch G, Favre B, Casasnovas O, Birnbaum D, Pˆ©busque MJ |
| British journal of haematology. 2000 ; 111 (2) : 647-649. |
| PMID 11122115 |
| 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, Pˆ©busque MJ |
| Blood. 2003 ; 101 (1) : 286-288. |
| PMID 12393597 |
| 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 |
| 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 |
| 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 |
| 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 |
| Contributor(s) |
| Written | 01-2008 | Jean-Loup Huret |
| Jean Loup HURET, Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(8;19)(p12;q13). Atlas Genet Cytogenet Oncol Haematol. January 2008 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0819p12q13ID1203.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:12:41 2008 |
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