| Clinics and Pathology |
| Disease | Acute myeloid leukaemia (AML) |
| Epidemiology | Only one case to date |
| Clinics | The patient was a 75 year old male patient with a myeloproliferative syndrome (MPS) in transformation to AML. The MPS was a 8p11 myeloproliferative syndrome (EMS) |
| Cytogenetics |
| Cytogenetics Morphological | The karyotype also comprised a t(8;22)(p11;q11) with BCR/ FGFR fusion, responsible for the EMS |
| Genes involved and Proteins |
| Note | RUNX1 was involved in the translocation. RUNX1, also called AML1 or CBFA2, is a transcription factor, critical regulator of hematopoietic-cell development, involved in many de novo and treatment related leukaemias. The exons 1-4 of RUNX1 were fused to repetitive sequences from chromosome 9, adding 70 amino acids to RUNX1 exon 4 encoding sequences, resulting in a truncated RUNX1. The t(9;21)/RUNX1 involvement may be responsible for the transformation of the EMS. |
| External links |
| Other database | t(9;21)(q34;q22) | Mitelman database (CGAP - NCBI) | |
| Other database | t(9;21)(q34;q22) | 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. |
| Bibliography |
| Fusion of the BCR and the fibroblast growth factor receptor-1 (FGFR1) genes as a result of t(8;22)(p11;q11) in a myeloproliferative disorder: the first fusion gene involving BCR but not ABL. |
| Fioretos T, Panagopoulos I, Lassen C, Swedin A, Billstrm R, Isaksson M, Strmbeck B, Olofsson T, Mitelman F, Johansson B |
| Genes, chromosomes & cancer. 2001 ; 32 (4) : 302-310. |
| PMID 11746971 |
| Fusion gene-mediated truncation of RUNX1 as a potential mechanism underlying disease progression in the 8p11 myeloproliferative syndrome. |
| Agerstam H, Lilljebjrn H, Lassen C, Swedin A, Richter J, Vandenberghe P, Johansson B, Fioretos T |
| Genes, chromosomes & cancer. 2007 ; 46 (7) : 635-643. |
| PMID 17394134 |
| Contributor(s) |
| Written | 02-2008 | Jean-Loup Huret |
| Jean Loup HURET, Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(9;21)(q34;q22). Atlas Genet Cytogenet Oncol Haematol. February 2008 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0921q34q22ID1483.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:12:47 2008 |
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