| Written | 2008-03 | 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 | 1307 |
| Clinics and Pathology |
| Disease | Acute myeloid leukaemia; blast crisis (of myeloid type) of chronic myelogenous leukaemia |
| Epidemiology | Four cases available: 4 male patients aged 44, 57, 67, and 72 (yrs). |
| Cytogenetics |
| Additional anomalies | No additional anomaly in one case, monosomy 5 and major karyotypic anomalies in one case, t(9;22)(q34;q11) in the two remaining cases. |
| Genes involved and Proteins |
| Note | RUNX1 was found involved in the translocation in the two cases where it was studied; the partner is unknown. |
| Gene Name | RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)) |
| Location | 21q22.12 |
| Protein | 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. |
| 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 |
| Jeandidier E, Dastugue N, Mugneret F, Lafage-Pochitaloff M, Mozziconacci MJ, Herens C, Michaux L, Verellen-Dumoulin C, Talmant P, Cornillet-Lefebvre P, Luquet I, Charrin C, Barin C, Collonge-Rame MA, Pérot C, Van den Akker J, Grégoire MJ, Jonveaux P, Baranger L, Eclache-Saudreau V, Pagès MP, Cabrol C, Terré C, Berger R; Groupe Français de Cytogénétique Hématologique (GFCH). |
| Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Français de Cytogénétique Hématologique (GFCH). |
| Cancer Genet Cytogenet. 2006 Apr 1;166(1):1-11. |
| PMID 16616106 |
| Spectral karyotyping (SKY) refinement of a complex karyotype with t(20;21) in a Ph-positive CML patient submitted to peripheral blood stem cell transplantation. |
| Calabrese G, Fantasia D, Franch PG, Morizio E, Stuppia L, Gatta V, Olioso P, Mingarelli R, Spadano A, Palka G. |
| Bone Marrow Transplant. 2000 Nov;26(10):1125-7. |
| PMID 11108316 |
| Location of breakpoints within the major breakpoint cluster region (bcr) in 33 patients with bcr rearrangement-positive chronic myeloid leukemia (CML) with complex or absent Philadelphia chromosomes. |
| Dubé I, Dixon J, Beckett T, Grossman A, Weinstein M, Benn P, McKeithan T, Norman C, Pinkerton P. |
| Genes Chromosomes Cancer. 1989 Sep;1(1):106-11. |
| PMID 2487142 |
| Detection of clonal karyotypic abnormalities in most patients with acute nonlymphocytic leukemia examined using short-term culture techniques. |
| Misawa S, Hogge DE, Oguma N, Wiernik PH, Testa JR. |
| Cancer Genet Cytogenet. 1986 Jul;22(3):239-51. |
| PMID 3708555 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(20;21)(q11;q22) |
| Atlas Genet Cytogenet Oncol Haematol. 2009;13(3):234-234. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t2021q11q22ID1307.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(20;21)(q11;q22) RUNX1/? | |
| 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 : Mon Jul 9 10:12:39 CEST 2018 |
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