| Written | 2008-03 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France | ||
| Updated | 2018-10 | Jean Loup Huret |
| jean-loup.huret@atlasgeneticsoncology.org |
| Abstract | Abstract: Review on t(20;21)(q11;q22), with data on clinics, and the genes involved. |
| Keywords | Chromosome 20; Chromosome 21; Acute myeloid leukemia; Chronic myelogenous leukaemia; RUNX1. NOL4L |
| 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 |
| ICD-Morpho | 9873/3 AML without maturation |
| ICD-Morpho | 9874/3 AML with maturation |
| Atlas_Id | 1307 |
| Clinics and Pathology |
| Disease | Acute myeloid leukaemia (AML) without maturation ( M1- AML) in one case, AML with maturation ( M2-AML) in one case; and blast crisis of myeloid type of chronic myelogenous leukaemia in two cases. |
| Epidemiology | Four cases available to date; three with t(20;21)(q11;q22) RUNX1/? (Misawa et al. 1986; Dube et al., 1989; Jeandidier et al., 2006), and one case with proved t(20;21)(q11.2;q22.1) RUNX1/NOL4L (Guastadisegni et al. 2010). They were all male patients, aged aged 44, 57, 67, and 72 years. |
| Cytogenetics |
| Additional anomalies | No additional anomaly in one case, monosomy 5 and major karyotypic anomalies in one case, monosomy 7 in another case, and t(9;22)(q34;q11) in the remaining case. |
| Genes involved and Proteins |
| Gene Name | NOL4L (nucleolar protein 4 like) |
| Location | 20q11.2 |
| Dna / Rna | 11 exons |
| Protein | Nothing is known concerning the domains of the protein, nor it's function. |
| Gene Name | RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)) |
| Location | 21q22.12 |
| Protein | RUNX1, also called AML1 or CBFA2, contains a Runt domain and, in the C-term, a transactivation domain, an inhibition domain, and various regulatory regions; forms heterodimers; widely expressed; nuclear localization. RUNX1 is a transcription factor, critical regulator of hematopoietic-cell development. It binds to the core site 5' PyGPyGGTPy 3' of promotors and enhancers. RUNX1 is involved in many de novo and treatment related leukemias. |
| Result of the chromosomal anomaly |
| Description | RUNX1 exon 6 was fused to NOL4L exon 8 in the case reported by Guastadisegni et al. 2010. |
| Oncogenesis | Wild-type NOL4L was expressed at low levels in AML and normal bone marrow, whereas the RUNX1/NOL4L was expressed at high levels (Guastadisegni et al. 2010). |
| 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) RUNX1/NOL4L; |
| Atlas Genet Cytogenet Oncol Haematol. in press |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t2021q11q22ID1307.html |
| History of this paper: |
| Huret, JL. t(20;21)(q11;q22). Atlas Genet Cytogenet Oncol Haematol. 2009;13(3):234-234. |
| http://documents.irevues.inist.fr/bitstream/handle/2042/44436/03-2008-t2021q11q22ID1307.pdf |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(20;21)(q11;q22) RUNX1/NOL4L | |
| 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 : Wed Nov 13 22:14:59 CET 2019 |
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