| 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 |
| 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 : Tue Nov 6 14:03:55 CET 2018 |
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