| Clinics and Pathology |
| Disease | Myeloid disorders: one chronic myelogenous leukemia with t(9;22) and one refractory anemiia with excee of blasts in transformation |
| Epidemiology | only 2 cases so far: 1 male and 1 female patient, aged 50 and 66 yrs |
| Prognosis | unknown so far |
| Genes involved and Proteins |
| Gene Name | MDS2 |
| Location | 1p36 |
| Dna / Rna | 7 exons; alternate splicing |
| Gene Name | ETV6 |
| Location | 12p13 |
| Dna / Rna | 9 exons; alternate splicing |
| Protein | contains a Helix-Loop-Helix and ETS DNA binding domains; wide expression; nuclear localisation; ETS-related transcription factor |
| Result of the chromosomal anomaly |
| Description | 5' ETV6 - 3' MDS2; exons 1 and 2 of ETV6 are fused to exons 6 and 7 of MDS2; fusion is not in frame; the reciprocal fusion gene is not expressed |
| Description | truncated ETV6 lacking the PTN domain and the DNA binding domain |
| External links |
| Other database | t(1;12)(p36;p13) | Mitelman database (CGAP - NCBI) | |
| Other database | t(1;12)(p36;p13) | CancerChromosomes (NCBI) |
| 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. | |
| Case Report | A Case of Myelodysplastic Syndrome with a Translocation t(1;12)(p36;p13) |
| Bibliography |
| Granulocytic sarcoma of the larynx preceding chronic myeloid leukemia. |
| Vassallo J, Altemani AM, Cardinalli IA, Crespo AN, Lima CS, Eid KA, Souza CA |
| Pathology, research and practice. 1993 ; 189 (9) : 1084-1086. |
| PMID 8302728 |
| A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome. |
| Odero MD, Vizmanos JL, Romˆ°n JP, Lahortiga I, Panizo C, Calasanz MJ, Zeleznik-Le NJ, Rowley JD, Novo FJ |
| Genes, chromosomes & cancer. 2002 ; 35 (1) : 11-19. |
| PMID 12203785 |
| Contributor(s) |
| Written | 07-2003 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(1;12)(p36;p13). Atlas Genet Cytogenet Oncol Haematol. July 2003 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0112p36p13ID1170.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Feb 6 15:45:28 CET 2010 |
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