t(6;12)(q22;q24) NCOR2/ROS1

2019-09-01   Tatiana Gindina 

1.R.M. Gorbacheva Memorial Institute of Children Oncology, Hematology and Transplantation at Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg, Russian Federation / e-mail: tatgindina@gmail.com

Abstract

Review on t(6;12)(q22;q24), with data on the genes involved.

Clinics and Pathology

Disease

Anaplastic large cell lymphoma, ALK negative

Note

Two available cases of t(6;12)(q22;q24) to date (Barbieri et al., 1984; Crescenzo et al., 2015). One case was a 39 year old patient (Barbieri et al., 1984).

Prognosis

No data

Genes Involved and Proteins

Note
In one case of t(6;12)(q22;q24) a hybrid NCOR2/ROS1 was found (Crescenzo et al., 2015).
Gene name
NCOR2
Location
12q24.31
Protein description
This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain nuclear receptors by promoting chromatin condensation, thus preventing access of the basal transcription. Aberrant expression of NCOR2 is associated with certain cancers.
Gene name
ROS1
Location
6q22.1
Protein description
This proto-oncogene belongs to the subfamily of tyrosine kinase insulin receptor genes and expresses in a variety of tumor cell lines. ROS1 is an integral membrane protein with tyrosine kinase activity, that may function as a growth or differentiation factor receptor.

Result of the Chromosomal Anomaly

Note

NCOR2/ROS1
Atlas Image
Schematic of the structure of the NCOR2/ROS1 fusion. The N-term region of NCOR2 is fused to the intracytoplasmic region of ROS1.

Description

EXPRESSION_LOCALISATION

Oncogenesis

The chimeric NCOR2/ROS1 fusion may influence the transcriptional activity of the partner genes, perturbing transcription repression. This, in turn, may lead to a widespread derangement of several metabolic and signaling pathways ( STAT3), which concur to tumor transformation [Crescenzo et al, 2015; Tabbo et al, 2016].

Bibliography

Pubmed IDLast YearTitleAuthors
64326401984Cytogenetic evaluation of bone marrow involvement in non-Hodgkin's lymphomas. A survey of 94 cases.Barbieri D et al
258731742015Convergent mutations and kinase fusions lead to oncogenic STAT3 activation in anaplastic large cell lymphoma.Crescenzo R et al
269437762016Oncogenic kinase fusions: an evolving arena with innovative clinical opportunities.Tabbò F et al

Summary

Fusion gene

NCOR2/ROS1

Citation

Tatiana Gindina

t(6;12)(q22;q24) NCOR2/ROS1

Atlas Genet Cytogenet Oncol Haematol. 2019-09-01

Online version: http://atlasgeneticsoncology.org/haematological/1765/t(6;12)(q22;q24)-ncor2-ros1