Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(8;20)(p11;q13)
| Identity |
 | |
| Top. GTG and R-banded partial karyotypes. Bottom. FISH of metaphase chromosomes of t(8;20)(p11;q13) with digoxigenin-labeled RP11-313J18 (MYST3 at 8p11) and biotinylated RP11-1151C1 (5' and main part of NCOA3 region at 20q13) and RP11-122N8 (3' part of NCOA3 and SULF2 region at 20q13). Fused RP11-313J18 / RP11-1151C1+RP11-122N8 (red/green) signals are observed on der(8) and der(20) chromosomes. Courtesy of Christine Pérot and Marie-Joëlle Mozziconacci. | |
| Clinics and Pathology |
| Disease | Acute myeloid leukemia AML-M5 without features of erythrophagocytosis. |
| Note | Only one case reported (a 75-year old woman). t(8;20) as a sole abnormality. |
| Clinics | Splenomegaly, DIVC. Hyperleucocytosis, anemia and thrombopenia. |
| Treatment | Hydroxyurea and low-dose cytosine-arabinoside. |
| Evolution | Death 2 months after diagnosis. No remission obtained. |
| Genes involved and Proteins |
| Gene Name | MYST3 (MYST histone acetyltransferase (monocytic leukemia) 3) |
| Location | 8p11 |
| Note | MYST3 is a histone acetyltransferase (HAT) belonging to the MYST family of HATs, that includes proteins involved in cell cycle regulation, chromatin remodeling and dosage compensation. MYST3 plays an important role during hematopoiesis with his transcriptional coregulator activity. |
| Dna / Rna | Breakpoint in intron 17. |
| Protein | MYST3 contains a LAP (Leukemia associated protein) zinc finger domain, a HAT domain (Histone acetyltransferase) and a acidic domain. 2004 amino acids; 225 kDa. |
| Gene Name | NCOA3 (Nuclear Receptor Coactivator 3) |
| Location | 20q13.1 |
| Note | NCOA3 is a transcriptional coactivator that interacts with nuclear hormone receptors and with other transcription factors including TP52, NfkB and ER81. It has intrinsic histone acetyltransferase activity and recruits CREB Binding Protein (CBP)/p300 co-integrators into multisubunit coactivator complexes. |
| Dna / Rna | Breakpoint in exon 13 (Δ45bp). |
| Protein | Member of the p160/steroid receptor coactivator family. 1424 amino acids; 155 kDa (130 kDa encoded by isoform b). |
| Result of the chromosomal anomaly |
| Note | Both MYST3-NCOA3 and NCOA3-MYST3 are expressed. Only the MYST3-NCOA3 fusion transcript has an open reading frame that may generate a functional chimeric protein. |
| Note | The CREB-interacting domain in NCOA3 (1046-1092aa) is conserved in the putative MYST3-NCOA3 fusion protein (at positions 1246-1292aa). |
| External links |
| Other database | t(8;20)(p11;q13) | Mitelman database (CGAP - NCBI) | |
| Other database | t(8;20)(p11;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 |
| NCOA3, a new fusion partner for MOZ/MYST3 in M5 acute myeloid leukemia. |
| Esteyries S, Perot C, Adelaide J, Imbert M, Lagarde A, Pautas C, Olschwang S, Birnbaum D, Chaffanet M, Mozziconacci MJ. |
| Leukemia. 2008 Mar;22(3):663-5. Epub 2007 Sep 6. |
| PMID 17805331 |
| Contributor(s) |
| Written | 08-2009 | Marie-Joëlle Mozziconacci, Christine Pérot |
| Institut Paoli-Calmettes, 232 Bd de Sainte-Marguerite, 13009 Marseille, France (MJM); Hôpital Saint-Antoine, 184 rue du Faubourg Saint-Antoine, 75012 Paris, France (CP) |
| Citation |
| This paper should be referenced as such : |
| Mozziconacci MJ, Pérot C . t(8;20)(p11;q13). Atlas Genet Cytogenet Oncol Haematol. August 2009 . URL : http://AtlasGeneticsOncology.org/Anomalies/t820p11q13ID1507.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Feb 6 15:46:33 CET 2010 |
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