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

2018-10-01   Jean Loup Huret 

1.jean-loup.huret@atlasgeneticsoncology.org
2.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.

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.

Genes Involved and Proteins

Gene name
NOL4L (nucleolar protein 4 like)
Location
20q11.2
Dna rna description
11 exons
Protein description
Nothing is known concerning the domains of the protein, nor its function.
Gene name
RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location
21q22.12
Protein description
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).

Bibliography

Pubmed IDLast YearTitleAuthors
166161062006Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Français de Cytogénétique Hématologique.Jeandidier E et al
111083162000Spectral 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 et al
24871421989Location 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 et al
37085551986Detection of clonal karyotypic abnormalities in most patients with acute nonlymphocytic leukemia examined using short-term culture techniques.Misawa S et al

Summary

Fusion gene

RUNX1/NOL4L

Citation

Jean Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2018-10-01

Online version: http://atlasgeneticsoncology.org/haematological/1307/t(20;21)(q11;q22)-runx1-nol4l

Historical Card

2008-03-01 t(20;21)(q11;q22) RUNX1/NOL4L by  Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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