| Written | 2008-08 | 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 | 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable |
| Atlas_Id | 1523 |
 | |
| t(X;21)(p11.2;q22) G- banding and FISH - Courtesy Aurelia M. Meloni-Ehrig | |
| Clinics and Pathology |
| Disease | Chronic myelogenous leukemia (CML) in blast crisis; the t(X;21) may be therapy related. |
| Epidemiology | Only one case to date, a female patient aged 23 years (Jeandidier et al., 2006). |
| Cytogenetics |
| Additional anomalies | t(9;22)(q34;q11), +8, i(17q). |
| Genes involved and Proteins |
| Note | The partner of RUNX1 is unknown. |
| Gene Name | RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)) |
| Location | 21q22.12 |
| Protein | Contains a Runt domain and, in the C-term, a transactivation domain; forms heterodimers; widely expressed; nuclear localisation; transcription factor (activator) for various hematopoietic-specific genes. |
| 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 |
| 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). |
| 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, Perot C, Van den Akker J, Gregoire MJ, Jonveaux P, Baranger L, Eclache-Saudreau V, Pages MP, Cabrol C, Terre C, Berger R; Groupe Français de Cytogénétique Hématologique (GFCH). |
| Cancer Genet Cytogenet. 2006 Apr 1;166(1):1-11. |
| PMID 16616106 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(X;21)(p11;q22) |
| Atlas Genet Cytogenet Oncol Haematol. 2009;13(8):589-590. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t0X21p11q22ID1523.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(X;21)(p11;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 Aug 12 17:00:37 CEST 2019 |
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