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t(20;21)(q11;q22) RUNX1::NOL4L

Written2018-10Jean Loup Huret
This article is an update of :
2008-03Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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

(Note : for Links provided by Atlas : click)


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.


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 NameNOL4L (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 NameRUNX1 (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

Hybrid gene
Description RUNX1 exon 6 was fused to NOL4L exon 8 in the case reported by Guastadisegni et al. 2010.
Fusion Protein
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.


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


This paper should be referenced as such :
Jean Loup Huret
t(20;21)(q11;q22) RUNX1/NOL4L
Atlas Genet Cytogenet Oncol Haematol. 2019;23(9):295-296.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Huret, JL. t(20;21)(q11;q22). Atlas Genet Cytogenet Oncol Haematol. 2009;13(3):234-234.

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes NOL4L

Translocations implicated (Data extracted from papers in the Atlas)

 t(20;21)(q11;q22) RUNX1/NOL4L

External links

Mitelman databaset(20;21)(q11;q22)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9873/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9874/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
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