Genetic features of cancer of unknown primary
Background. Cancer of unknown primary (CUP) is a metastatic lesion with diffcult identifcation of the primary tumor site using standard diagnostic approaches. Although the incidence of CUP is not high, this type of cancer often shows a high aggressiveness and therapy resistance and results in poor p...
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| Format: | Article |
| Language: | Russian |
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Russian Academy of Sciences, Tomsk National Research Medical Center
2023-01-01
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| Series: | Сибирский онкологический журнал |
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| Online Access: | https://www.siboncoj.ru/jour/article/view/2371 |
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| author | A. A. Schegoleva M. S. Tretyakova R. S. Vorobyov O. A. Ananina U. A. Bokova E. V. Denisov |
| author_facet | A. A. Schegoleva M. S. Tretyakova R. S. Vorobyov O. A. Ananina U. A. Bokova E. V. Denisov |
| author_sort | A. A. Schegoleva |
| collection | DOAJ |
| description | Background. Cancer of unknown primary (CUP) is a metastatic lesion with diffcult identifcation of the primary tumor site using standard diagnostic approaches. Although the incidence of CUP is not high, this type of cancer often shows a high aggressiveness and therapy resistance and results in poor patient survival. The mechanisms of CUP origin are not clear, and further studies are needed.This study aims to analyze the mutational landscape of CUP and identify specifc genetic alterations.Material and Methods. Whole exome sequencing was used to analyze the mutational landscape of CUP. Results. CUP had single nucleotide variants (SNVs) in the EPHA8 (ephrin receptor) gene. CUP also harbored copy number variations (CNAs) in the ID2, FOXD4, ZMYND11, ZNF596, KIDINS220, LRRN1, GEMIN4, CEP72, TPPP, and MXRA5 genes. According to functional enrichment analysis, these genes are involved in the regulation of transcription, biogenesis of microRNA, cellular cytoskeleton, adhesion, extracellular matrix remodeling, proliferation, apoptosis, and epithelial-mesenchymal transition.Conclusion. Cancer of unknown primary harbors mutations in the genes that regulate different biological processes particularly cell motility. |
| first_indexed | 2024-04-10T01:51:59Z |
| format | Article |
| id | doaj.art-404fa6646438452f998ba071021e1571 |
| institution | Directory Open Access Journal |
| issn | 1814-4861 2312-3168 |
| language | Russian |
| last_indexed | 2024-04-10T01:51:59Z |
| publishDate | 2023-01-01 |
| publisher | Russian Academy of Sciences, Tomsk National Research Medical Center |
| record_format | Article |
| series | Сибирский онкологический журнал |
| spelling | doaj.art-404fa6646438452f998ba071021e15712023-03-13T09:05:56ZrusRussian Academy of Sciences, Tomsk National Research Medical CenterСибирский онкологический журнал1814-48612312-31682023-01-01216384610.21294/1814-4861-2022-21-6-38-461061Genetic features of cancer of unknown primaryA. A. Schegoleva0M. S. Tretyakova1R. S. Vorobyov2O. A. Ananina3U. A. Bokova4E. V. Denisov5Научно-исследовательский институт онкологии, Томский национальный исследовательский медицинский центр Российской академии наукНаучно-исследовательский институт онкологии, Томский национальный исследовательский медицинский центр Российской академии наукНаучно-исследовательский институт онкологии, Томский национальный исследовательский медицинский центр Российской академии наукНаучно-исследовательский институт онкологии, Томский национальный исследовательский медицинский центр Российской академии наукНаучно-исследовательский институт онкологии, Томский национальный исследовательский медицинский центр Российской академии наукНаучно-исследовательский институт онкологии, Томский национальный исследовательский медицинский центр Российской академии наукBackground. Cancer of unknown primary (CUP) is a metastatic lesion with diffcult identifcation of the primary tumor site using standard diagnostic approaches. Although the incidence of CUP is not high, this type of cancer often shows a high aggressiveness and therapy resistance and results in poor patient survival. The mechanisms of CUP origin are not clear, and further studies are needed.This study aims to analyze the mutational landscape of CUP and identify specifc genetic alterations.Material and Methods. Whole exome sequencing was used to analyze the mutational landscape of CUP. Results. CUP had single nucleotide variants (SNVs) in the EPHA8 (ephrin receptor) gene. CUP also harbored copy number variations (CNAs) in the ID2, FOXD4, ZMYND11, ZNF596, KIDINS220, LRRN1, GEMIN4, CEP72, TPPP, and MXRA5 genes. According to functional enrichment analysis, these genes are involved in the regulation of transcription, biogenesis of microRNA, cellular cytoskeleton, adhesion, extracellular matrix remodeling, proliferation, apoptosis, and epithelial-mesenchymal transition.Conclusion. Cancer of unknown primary harbors mutations in the genes that regulate different biological processes particularly cell motility.https://www.siboncoj.ru/jour/article/view/2371метастазневыявленный первичный очагмутациягенсеквенирование |
| spellingShingle | A. A. Schegoleva M. S. Tretyakova R. S. Vorobyov O. A. Ananina U. A. Bokova E. V. Denisov Genetic features of cancer of unknown primary Сибирский онкологический журнал метастаз невыявленный первичный очаг мутация ген секвенирование |
| title | Genetic features of cancer of unknown primary |
| title_full | Genetic features of cancer of unknown primary |
| title_fullStr | Genetic features of cancer of unknown primary |
| title_full_unstemmed | Genetic features of cancer of unknown primary |
| title_short | Genetic features of cancer of unknown primary |
| title_sort | genetic features of cancer of unknown primary |
| topic | метастаз невыявленный первичный очаг мутация ген секвенирование |
| url | https://www.siboncoj.ru/jour/article/view/2371 |
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