Written | 2003-12 | Jacques Boyer |
Laboratoire d' hématologie, CH du MANS, France |
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 |
Atlas_Id | 1315 |
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 leukaemia (M4, M5a, M5b) associated with erythrophagocytosis by blasts noted to various degree. |
Epidemiology | Rare |
Cytology | Morphology feature observed in AML with t(8;16). |
Prognosis | probably poor |
Cytogenetics |
Cytogenetics Morphological | t(8;19) (p11;q13) is a variant of t(8;16) (p11;p13) |
Additional anomalies | Two cases : |
Genes involved and Proteins |
Gene Name | KAT6A (MYST histone acetyltransferase (monocytic leukemia) 3 |
Location | 8p11.21 |
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 LAP/PHD-type zinc fingers. MOZ is a histone acetyltransferase (HAT) and the founding 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 | The partner of MOZ is unknown in this translocation. |
Location | 19q13 |
Result of the chromosomal anomaly |
Note | In the t(8 ;19) the fusion protein is unknown. |
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 |
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 |
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 |
A new specific chromosomal rearrangement, t(8;16) (p11;p13), in acute monocytic leukaemia. |
Heim S, Avanzi GC, Billström 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? |
Laï 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 |
[FGFR1 and MOZ, two key genes involved in malignant hemopathies linked to rearrangements within the chromosomal region 8p11-12] |
Pébusque MJ, Chaffanet M, Popovici C, Birnbaum D |
Bulletin du cancer. 2000 ; 87 (12) : 887-894. |
PMID 11174118 |
A distinct subtype of M4/M5 acute myeloblastic leukemia (AML) associated with t(8:16)(p11:p13), in a patient with the variant t(8:19)(p11:q13)--case report and review of the literature. |
Stark B, Resnitzky P, Jeison M, Luria D, Blau O, Avigad S, Shaft D, Kodman Y, Gobuzov R, Ash S |
Leukemia research. 1995 ; 19 (6) : 367-379. |
PMID 7596149 |
Citation |
This paper should be referenced as such : |
Boyer, J |
t(8;19)(p11;q13) |
Atlas Genet Cytogenet Oncol Haematol. 2004;8(2):88-89. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0819p11q13ID1315.html |
Translocations implicated (Data extracted from papers in the Atlas) |
t(8;19)(p11;q13) KAT6A/? | |
External links |
Mitelman database | t(8;19)(p11;q13) |
arrayMap (UZH-SIB Zurich) | Topo ( C42) Morph ( 9861/3) - [auto + random 100 samples .. if exist ] [tabulated segments] |
REVIEW articles | automatic search in PubMed |
Last year articles | automatic search in PubMed |
All articles | automatic search in PubMed |
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