Written | 2000-06 | Jean-Loup Huret |
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
Identity |
ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
ICD-Morpho | 9807/3 Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged |
ICD-Morpho | 9813/3 B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged |
ICD-Morpho | 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS |
Atlas_Id | 1179 |
Clinics and Pathology |
Disease | M5 acute myeloid leukemia (AML) |
Clinics | poorly known: one case, a 39 year old man with 47,XY,+5,t(11;17)(q23;q12) |
Genes involved and Proteins |
Gene Name | KMT2A (myeloid/lymphoid or mixed lineage leukemia) |
Location | 11q23.3 |
Dna / Rna | 21 exons, spanning over 100 kb; 13-15 kb mRNA |
Protein | 431 kDa; contains two DNA binding motifs (a AT hook, and Zinc fingers), a DNA methyl transferase motif, a bromodomain; transcriptional regulatory factor; nuclear localisation |
Gene Name | RARA (Retinoic acid receptor, alpha) |
Location | 17q21.2 |
Protein | wide expression; nuclear receptor; binds specific DNA sequences: HRE (hormone response elements); ligand and dimerization domain; role in growth and differentiation |
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 |
Involvement of the MLL and RARalpha genes in a patient with acute monocytic leukemia with t(11;17)(q23;q12) |
Shekhter-Levin S, Gollin SM, Kaplan SS, Redner RL |
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2000 ; 14 (3) : 520-522. |
PMID 10720155 |
Citation |
This paper should be referenced as such : |
Huret, JL |
t(11;17)(q23;q12) MLL/RARa |
Atlas Genet Cytogenet Oncol Haematol. 2000;4(3):128-128. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1117ID1179.html |
Other genes implicated (Data extracted from papers in the Atlas) [ 2 ] |
Genes | KMT2A | RARA |
Translocations implicated (Data extracted from papers in the Atlas) |
t(11;17)(q23;q12) KMT2A/RARA | |
External links |
REVIEW articles | automatic search in PubMed |
Last year articles | automatic search in PubMed |
All articles | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Dec 14 18:26:29 CET 2020 |
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