| Written | 2011-10 | 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 | 9837/3 T lymphoblastic leukaemia/lymphoma |
| Atlas_Id | 1466 |
| Clinics and Pathology |
| Disease | T-cell acute lymphoid leukemia (T-ALL) |
| Epidemiology | One case to date, a 9-year-old boy. |
| Evolution | Remission was obtained and the patient remains in complete remission 28 months after diagnosis. |
| Cytogenetics |
| Cytogenetics Morphological | The translocation was accompanied with a del(12p). |
| Genes involved and Proteins |
| Gene Name | NUP98 |
| Location | 11p15.4 |
| Protein | Nucleoporin: associated with the nuclear pore complex. Role in nucleocytoplasmic transport processes. |
| Gene Name | SETBP1 |
| Location | 18q12.3 |
| Protein | Contains 3 DNA binding domains (A.T hooks). SETBP1 protects SET from protease cleavage. SETBP1 forms a complex with SET and PP2A (protein phosphatase 2A). SETBP1 impairs PP2A activity via SET and promotes proliferation of acute myeloid leukemia cells (Cristóbal et al., 2010). |
| Germinal mutations | In Schinzel-Giedion midface retraction syndrome. |
| Result of the chromosomal anomaly |
| Description | 5' NUP98 - 3' SETBP1 |
| Transcript | Exon 12 of NUP98 (nucleotide (nt) 1552) fused in-frame with exon 5 of SETBP1 (nt 4015). |
| 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 |
| SETBP1 overexpression is a novel leukemogenic mechanism that predicts adverse outcome in elderly patients with acute myeloid leukemia. |
| Cristobal I, Blanco FJ, Garcia-Orti L, Marcotegui N, Vicente C, Rifon J, Novo FJ, Bandres E, Calasanz MJ, Bernabeu C, Odero MD. |
| Blood. 2010 Jan 21;115(3):615-25. Epub 2009 Nov 16. |
| PMID 19965692 |
| Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12). |
| Panagopoulos I, Kerndrup G, Carlsen N, Strombeck B, Isaksson M, Johansson B. |
| Br J Haematol. 2007 Jan;136(2):294-6. |
| PMID 17233820 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(11;18)(p15;q12) |
| Atlas Genet Cytogenet Oncol Haematol. 2012;16(3):233-233. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t1118p15q12ID1466.html |
| Other genes implicated (Data extracted from papers in the Atlas) [ 1 ] |
| Genes | SETBP1 |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(11;18)(p15;q12) NUP98/SETBP1 | |
| 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 : Fri Jun 30 11:23:45 CEST 2017 |
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