| Written | 2008-02 | 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 | 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS |
| Atlas_Id | 1483 |
| 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. |
| 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 gene-mediated truncation of RUNX1 as a potential mechanism underlying disease progression in the 8p11 myeloproliferative syndrome. |
| Agerstam H, Lilljebjörn H, Lassen C, Swedin A, Richter J, Vandenberghe P, Johansson B, Fioretos T |
| Genes, chromosomes & cancer. 2007 ; 46 (7) : 635-643. |
| PMID 17394134 |
| 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, Billström R, Isaksson M, Strömbeck B, Olofsson T, Mitelman F, Johansson B |
| Genes, chromosomes & cancer. 2001 ; 32 (4) : 302-310. |
| PMID 11746971 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(9;21)(q34;q22) |
| Atlas Genet Cytogenet Oncol Haematol. 2009;13(2):141-141. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t0921q34q22ID1483.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(9;21)(q34;q22) RUNX1 truncated | |
| External links |
| Mitelman database | t(9;21)(q34;q22) |
| arrayMap (UZH-SIB Zurich) | Topo ( C42) Morph ( 9861/3) - [auto + random 100 samples .. if exist ] [tabulated segments] |
| 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 18:26:16 CET 2020 |
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