Written | 2002-04 | Mariko Eguchi |
Leukaemia Research Fund Centre, Institute of Cancer Research, Chester Beatty Laboratories, 237 Fulham Road, London SW3 6JB, UK |
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 |
ICD-Morpho | 9920/3 Therapy-related myeloid neoplasms |
Atlas_Id | 1198 |
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t(11;14)(q23;q24), G-banding | |
Clinics and Pathology |
Disease | AML and therapy related AL |
Phenotype / cell stem origin | monoblastic, unclassified |
Epidemiology | Rare. Three cases reported so far. |
Prognosis | Very poor. Less than 2 months survival in two cases. |
Cytogenetics |
Additional anomalies | Not found in mainline in reported cases. |
Genes involved and Proteins |
Gene Name | KMT2A (myeloid/lymphoid or mixed lineage leukemia) |
Location | 11q23.3 |
Dna / Rna | 36 exons, spans over 100kb, ORF 12kb. |
Protein | 3969 amino acids; 431 kDa; contains two DNA binding motifs (a AT hook and a DNA methyltransferase homology motif), trithorax homology domains, zinc finger domains with features of PHD fingers and the C-terminal SET domain. |
Gene Name | GPHN (Gephyrin) |
Location | 14q23.3 |
Dna / Rna | 29 exons, spans approximately 800kb, ORF 2.3kb |
Protein | 736 to 770 amino acids; 93-105 kDa; submembraneous scaffold protein that anchors glycine receptor to postsynaptic cytoskeletal elements through a putative microtubule binding motif. GPHN is also involved in molybdenum cofactor biosynthesis (MoaB, MogA and MoeA homology domain), and interacts with RAFT-1. |
Result of the chromosomal anomaly |
Description | 5' MLL-3' GPHN on der (11) |
Transcript | no GPHN-MLL reciprocal transcript |
MLL-GPHN protein | |
Description | C-terminal half of GPHN, including the suspected putative microtubule binding motif and MoeA homology domain, is fused to the N-terminal portion of MLL. |
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 |
Molecular mechanisms of leukemogenesis mediated by MLL fusion proteins. |
Ayton PM, Cleary ML |
Oncogene. 2001 ; 20 (40) : 5695-5707. |
PMID 11607819 |
The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells. |
David-Watine B |
Gene. 2001 ; 271 (2) : 239-245. |
PMID 11418245 |
GPHN, a novel partner gene fused to MLL in a leukemia with t(11;14)(q23;q24). |
Eguchi M, Eguchi-Ishimae M, Seto M, Morishita K, Suzuki K, Ueda R, Ueda K, Kamada N, Greaves M |
Genes, chromosomes & cancer. 2001 ; 32 (3) : 212-221. |
PMID 11579461 |
Receptors, gephyrin and gephyrin-associated proteins: novel insights into the assembly of inhibitory postsynaptic membrane specializations. |
Kneussel M, Betz H |
The Journal of physiology. 2000 ; 525 Pt 1 : 1-9. |
PMID 10811719 |
t(11;14)(q23;q24) generates an MLL-human gephyrin fusion gene along with a de facto truncated MLL in acute monoblastic leukemia. |
Kuwada N, Kimura F, Matsumura T, Yamashita T, Nakamura Y, Wakimoto N, Ikeda T, Sato K, Motoyoshi K |
Cancer research. 2001 ; 61 (6) : 2665-2669. |
PMID 11289145 |
Leukemic evolution in three patients with myelodysplastic syndrome and unusual chromosome changes. |
Palka G, Calabrese G, Stuppia L, Guanciali Franchi P, Antonucci A, Spadano A, Di Lorenzo R, Torlontano G |
Cancer genetics and cytogenetics. 1992 ; 61 (2) : 162-164. |
PMID 1638498 |
Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein. |
Prior P, Schmitt B, Grenningloh G, Pribilla I, Multhaup G, Beyreuther K, Maulet Y, Werner P, Langosch D, Kirsch J |
Neuron. 1992 ; 8 (6) : 1161-1170. |
PMID 1319186 |
Citation |
This paper should be referenced as such : |
Eguchi, M |
t(11;14)(q23;q24) |
Atlas Genet Cytogenet Oncol Haematol. 2002;6(3):213-214. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1114q23q24ID1198.html |
Other genes implicated (Data extracted from papers in the Atlas) [ 2 ] |
Genes | GPHN | KMT2A |
Translocations implicated (Data extracted from papers in the Atlas) |
t(11;14)(q23;q24) KMT2A/GPHN | |
External links |
Mitelman database | t(11;14)(q23;q24) |
arrayMap (UZH-SIB Zurich) | Topo ( C42) Morph ( 9861/3) - [auto + random 100 samples .. if exist ] [tabulated segments] |
arrayMap (UZH-SIB Zurich) | Topo ( C42) Morph ( 9920/3) - [auto + random 100 samples .. if exist ] [tabulated segments] |
COSMIC_fusion | KMT2A/GPHN KMT2A (11q23.3) GPHN (14q23.3) [fusion1850] [fusion1851] [fusion1852] |
TICdb | KMT2A/GPHN KMT2A (11q23.3) GPHN (14q23.3) |
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 18:26:27 CET 2020 |
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