| Written | 2001-06 | Uta Fuchs, Arndt Borkhardt |
| Children's University Hospital Giessen, Hematology &Oncology, Feulgenstr. 12, 35392 Giessen, Germany |
| 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 | 1205 |
| Other names | ins(11;9)(q23;q34)inv(11)(q13;q23) |
| Clinics and Pathology |
| Disease | acute myeloid leukemia (AML) |
| Phenotype / cell stem origin | one case of M4-AML |
| Epidemiology | unknown |
| Clinics | WBC 35 X 109/l |
| Prognosis | poor |
| Cytogenetics |
| Cytogenetics Molecular | YAC 13HH4; P1 ICRFP700L11103Q5 |
| Genes involved and Proteins |
| Gene Name | FNBP1 (Formin Binding Protein 17) |
| Location | 9q34.11 |
| Dna / Rna | at least 2042 bp |
| Protein | at least 679 amino acids |
| Gene Name | KMT2A (myeloid/lymphoid or mixed lineage leukemia) |
| Location | 11q23.3 |
| Dna / Rna | 11910 bp |
| Protein | 3970 amino acids; contains two DNA binding motifs (a AT hook, and Zinc fingers), a DNA methyl transferase motif, a bromodomain; transcriptional regulatory factor; nuclear localisation |
| Result of the chromosomal anomaly |
| Description | 5'-MLL/FBP17-3' |
 | |
| Description | Hybrid transcript MLL/FBP17 contains the following domains: from MLL: AT-hook, DNA-Methyltransferase, Zinc-Fingers; from FBP17:cdc15 homology region, putative rho-binding domain, SH3-domain |
| Expression Localisation | nuclear |
| Oncogenesis | 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 |
| The human formin-binding protein 17 (FBP17) interacts with sorting nexin, SNX2, and is an MLL-fusion partner in acute myelogeneous leukemia. |
| Fuchs U, Rehkamp G, Haas OA, Slany R, König M, Bojesen S, Bohle RM, Damm-Welk C, Ludwig WD, Harbott J, Borkhardt A |
| Proceedings of the National Academy of Sciences of the United States of America. 2001 ; 98 (15) : 8756-8761. |
| PMID 11438682 |
| Citation |
| This paper should be referenced as such : |
| Fuchs, U ; Borkhardt, A |
| t(9;11)(q34;q23) FBP17/MLL |
| Atlas Genet Cytogenet Oncol Haematol. 2001;5(3):200-201. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t0911FBPID1205.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(9;11)(q34;q23) FNBP1/KMT2A | |
| 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 14:03:33 CET 2018 |
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