| Identity |
| Note | Two distinct clinical syndromes have been associated with the 8p11-p12 region : The partners of 8p11 are 8q13, 14q11, 16p13, 19q13, 22q13 and 3q27, 17q12 in a complexe translocation t(3;8;17)(q27;p11; q12). |
| Clinics and Pathology |
| Disease | Acute myelomonocytic or monocytic leukemia (M4, M5a, M5b) associated with erythrophagocytosis by blasts noted to various degree, one case is probably a therapy-related leukemia. |
| Epidemiology | Rare |
| Cytology | Erythrophagocytosis by blasts cells is occasionally found but not marked. |
| Prognosis | probably poor |
| Cytogenetics |
| Cytogenetics Morphological | t(8;19) (p11;q13) ID: > is a variant of |
| Additional anomalies | In one case association with trisomy 8 |
| Genes involved and Proteins |
| Gene Name | MOZ |
| Location | 8p11 |
| Note | MOZ contains a LAP (Leukemia associated protein) zinc finger domain , a HAT domain (Histone acetyltransferase) and a acidic domain. Detection by FISH : YAC 176C9. |
| Protein | ZNF220 Monocytic leukemia zinc finger protein 2004 amino acids and 225 kDa nuclear protein, with 2 PHD-type zinc fingers. MOZ is a histone acetyltransferase (HAT) and the fouding member of the MYST family of HATs, a family that includes proteins involved in cell cycle regulation, chromatin remodeling and dosage compensation. MOZ plays an important role during hematopoiesis with his transcriptional coregulator activity. |
| Gene Name | P300 |
| Note | Detection: FISH with the bacterial artificial chromosome clone H59D10 |
| Protein | Adenoviral E1A-associated protein p300 with acethyltransferase activity |
| Result of the chromosomal anomaly |
| Note | Gene fusion MOZ/P300 |
| Description | MOZ is disrupted within the sequences encoding the acidic domain. Both fusion transcripts are expressed. The t(8;22) breakpoints occurs in MOZ codon 1117 within an exon of 4 kb. |
| Description | MOZ-p300 fusion is similar to MOZ-CBP described in the t(8;16) but involve p300 instead of CBP. The translocation creates in-frame fusion proteins (MOZ-p300 and p300-MOZ). The two fusion proteins retain the N-terminus portion of MOZ including the HAT domain. |
| Oncogenesis | How the MOZ-p300 fusion protein is involved in acute leukemia is not known, but it probably affects the chromatin condensation. |
| External links |
| Other database | t(8;22) (p11;q13) | Mitelman database (CGAP - NCBI) | |
| Other database | t(8;22) (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 |
| A new specific chromosomal rearrangement, t(8;16) (p11;p13), in acute monocytic leukaemia. |
| Heim S, Avanzi GC, Billstrm R, Kristoffersson U, Mandahl N, Bekassy AN, Garwicz S, Wiebe T, Pegoraro L, Falda M |
| British journal of haematology. 1987 ; 66 (3) : 323-326. |
| PMID 3476150 |
| Three cases of translocation (8;16)(p11;p13) observed in acute myelomonocytic leukemia: a new specific subgroup? |
| La JL, Zandecki M, Jouet JP, Savary JB, Lambiliotte A, Bauters F, Cosson A, Deminatti M |
| Cancer genetics and cytogenetics. 1987 ; 27 (1) : 101-109. |
| PMID 3472640 |
| A complex t(3;8;17) involving breakpoint 8p11 in a case of M5 acute nonlymphocytic leukemia with erythrophagocytosis. |
| Bertheas MF, Jaubert J, Vasselon C, Reynaud J, Pomier G, Le Petit JC, Hagemeijer A, Brizard CP |
| Cancer genetics and cytogenetics. 1989 ; 42 (1) : 67-73. |
| PMID 2790748 |
| Acute monocytic leukemia with (8;22)(p11;q13) translocation. Involvement of 8p11 as in classical t(8;16)(p11;p13). |
| Lai JL, Zandecki M, Fenaux P, Preudhomme C, Facon T, Deminatti M |
| Cancer genetics and cytogenetics. 1992 ; 60 (2) : 180-182. |
| PMID 1606561 |
| Molecular cloning and functional analysis of the adenovirus E1A-associated 300-kD protein (p300) reveals a protein with properties of a transcriptional adaptor. |
| Eckner R, Ewen ME, Newsome D, Gerdes M, DeCaprio JA, Lawrence JB, Livingston DM |
| Genes & development. 1994 ; 8 (8) : 869-884. |
| PMID 7523245 |
| Abnormalities of chromosome band 8p11 in leukemia: two clinical syndromes can be distinguished on the basis of MOZ involvement. |
| Aguiar RC, Chase A, Coulthard S, Macdonald DH, Carapeti M, Reiter A, Sohal J, Lennard A, Goldman JM, Cross NC |
| Blood. 1997 ; 90 (8) : 3130-3135. |
| PMID 9376594 |
| MOZ is fused to p300 in an acute monocytic leukemia with t(8;22). |
| Chaffanet M, Gressin L, Preudhomme C, Soenen-Cornu V, Birnbaum D, Pbusque MJ |
| Genes, chromosomes & cancer. 2000 ; 28 (2) : 138-144. |
| PMID 10824998 |
| [FGFR1 and MOZ, two key genes involved in malignant hemopathies linked to rearrangements within the chromosomal region 8p11-12] |
| Pbusque MJ, Chaffanet M, Popovici C, Birnbaum D |
| Bulletin du cancer. 2000 ; 87 (12) : 887-894. |
| PMID 11174118 |
| Secondary acute monocytic leukemia with a translocation t(8;22)(p11;q13). |
| Tasaka T, Nagai M, Matsuhashi Y, Uehara E, Tamura T, Ishida T, Kakazu N, Abe T |
| Haematologica. 2002 ; 87 (5) : page ECR19. |
| PMID 12010682 |
| Contributor(s) |
| Written | 12-2003 | Jacques Boyer |
| Citation |
| This paper should be referenced as such : |
| Boyer J . t(8;22) (p11;q13). Atlas Genet Cytogenet Oncol Haematol. December 2003 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0822p11q13ID1119.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:12:43 2008 |
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