| Written | 2019-09 | Tatiana Gindina |
| 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. |
| Keywords | Chromosome 6; Chromosome 12; t(6;12)(q22;q24); Anaplastic large cell lymphoma, ALK negative |
| Identity |
| ICD-Topo | C420,C421,C424 |
| ICD-Morpho | 9702/3 Peripheral T-cell lymphoma, NOS; Anaplastic large cell lymphoma, ALK negative |
| Atlas_Id | 1765 |
| 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 | 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 | 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 |
 | |
| 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]. |
| 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 |
| Cytogenetic evaluation of bone marrow involvement in non-Hodgkin's lymphomas. A survey of 94 cases. |
| Barbieri D, Michaux JL, Bosly A, van Hove W, Noens L, Drochmans A, Louwagie A, Tricot G, Boogaerts M, Vermaelen K, et al. |
| Haematologica. 1984 May-Jun;69(3):285-96. |
| PMID 6432640 |
| Convergent mutations and kinase fusions lead to oncogenic STAT3 activation in anaplastic large cell lymphoma. |
| Crescenzo R, Abate F, Lasorsa E, Tabbo F, Gaudiano M, et al. |
| Cancer Cell. 2015; 27(4):516-532 |
| PMID 25873174 |
| Oncogenic kinase fusions: an evolving arens with innovative clinical opportunities. |
| Tabbo F, Pizzi M, Kyriakides PW, Ruggeri B, Inghirami G. |
| Oncotarget. 2016; 7(18):25064-25086 |
| PMID 26943776 |
| Citation |
| This paper should be referenced as such : |
| Tatiana Gindina |
| t(6;12)(q22;q24) NCOR2/ROS1 |
| Atlas Genet Cytogenet Oncol Haematol. 2020;24(7):276-277. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t0612q22q24NCOR2_ROS1ID1765.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(6;12)(q22;q24) NCOR2/ROS1 | |
| External links |
| Mitelman database | t(6;12)(q22;q24) |
| arrayMap (UZH-SIB Zurich) | Morph ( 9702/3) - [auto + random 100 samples .. if exist ] [tabulated segments] |
| 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 Dec 14 18:25:58 CET 2020 |
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