SDHx mutations are associated with the PI3K-Akt signaling pathway in vagal paragangliomas
Background: Vagal paraganglioma (VPGL) is a very rare neuroendocrine tumor arising from the paraganglion associated with the vagus nerve. VPGL is mainly characterized by an asymptomatic course and slow growth. However, up to 19% of tumors can metastasize. Due to the rarity of this tumor, information...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Institute of Oncology, Sremska Kamenica, Serbia
2023-01-01
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| Series: | Archive of Oncology |
| Subjects: | |
| Online Access: | https://scindeks-clanci.ceon.rs/data/pdf/0354-7310/2023/0354-73102302004S.pdf |
| _version_ | 1797366939305115648 |
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| author | Snezhkina Anastasiya V. Fedorova Maria S. Ayupova Asiya F. Pudova Elena A. Kobelyatskaya Anastasiya A. Kalinin Dmitry V. Golovyuk Alexander L. Krasnov George S. Pavlov Vladislav S. Kudryavtseva Anna V. |
| author_facet | Snezhkina Anastasiya V. Fedorova Maria S. Ayupova Asiya F. Pudova Elena A. Kobelyatskaya Anastasiya A. Kalinin Dmitry V. Golovyuk Alexander L. Krasnov George S. Pavlov Vladislav S. Kudryavtseva Anna V. |
| author_sort | Snezhkina Anastasiya V. |
| collection | DOAJ |
| description | Background: Vagal paraganglioma (VPGL) is a very rare neuroendocrine tumor arising from the paraganglion associated with the vagus nerve. VPGL is mainly characterized by an asymptomatic course and slow growth. However, up to 19% of tumors can metastasize. Due to the rarity of this tumor, information about VPGL is limited to single cases and small sample sets; the data on molecular genetic features is extremely scarce. Methods: For the first time we have analyzed the enrichment of biological pathways associated with mutations in the SDHx genes in VPGLs. Bioinformatics analysis was performed based on the results of high-throughput transcriptome sequencing on an Illumina platform for 33 tumor tissues obtained from patients with vagal paragangliomas. Results: Eight pathways of the Kyoto Encyclopedia of Genes and Genomes (KEGG) database with gene overrepresentation (top-40 mode) have been identified. Significant changes were shown for the cancer-associated PI3K-Akt signaling pathway and interconnected pathways of focal adhesion and interaction of receptors with the extracellular matrix enriched by overexpressed genes. Conclusion: Our result indicates the association of SDHx mutations with changes in the PI3K-Akt signaling pathway in vagal paraganglioma. The potential mechanism of deregulation in this pathway could be linked with a state of pseudohypoxia induced by the dysfunction of succinate dehydrogenase due to mutations in the SDHx genes. |
| first_indexed | 2024-03-08T17:11:39Z |
| format | Article |
| id | doaj.art-3eed18088ce94229a10d7c90e67610c2 |
| institution | Directory Open Access Journal |
| issn | 0354-7310 1450-9520 |
| language | English |
| last_indexed | 2024-03-08T17:11:39Z |
| publishDate | 2023-01-01 |
| publisher | Institute of Oncology, Sremska Kamenica, Serbia |
| record_format | Article |
| series | Archive of Oncology |
| spelling | doaj.art-3eed18088ce94229a10d7c90e67610c22024-01-03T21:27:33ZengInstitute of Oncology, Sremska Kamenica, SerbiaArchive of Oncology0354-73101450-95202023-01-012924710.2298/AOO230608004S0354-73102302004SSDHx mutations are associated with the PI3K-Akt signaling pathway in vagal paragangliomasSnezhkina Anastasiya V.0Fedorova Maria S.1Ayupova Asiya F.2Pudova Elena A.3Kobelyatskaya Anastasiya A.4Kalinin Dmitry V.5Golovyuk Alexander L.6Krasnov George S.7Pavlov Vladislav S.8Kudryavtseva Anna V.9Russian Academy of Sciences, Engelhardt Institute of Molecular Biology, Moscow, RussiaRussian Academy of Sciences, Engelhardt Institute of Molecular Biology, Moscow, RussiaRussian Academy of Sciences, Engelhardt Institute of Molecular Biology, Moscow, RussiaRussian Academy of Sciences, Engelhardt Institute of Molecular Biology, Moscow, RussiaRussian Academy of Sciences, Engelhardt Institute of Molecular Biology, Moscow, RussiaMinistry of Health of the Russian Federation, Vishnevsky Institute of Surgery, Moscow, RussiaMinistry of Health of the Russian Federation, Vishnevsky Institute of Surgery, Moscow, RussiaRussian Academy of Sciences, Engelhardt Institute of Molecular Biology, Moscow, RussiaRussian Academy of Sciences, Engelhardt Institute of Molecular Biology, Moscow, RussiaRussian Academy of Sciences, Engelhardt Institute of Molecular Biology, Moscow, RussiaBackground: Vagal paraganglioma (VPGL) is a very rare neuroendocrine tumor arising from the paraganglion associated with the vagus nerve. VPGL is mainly characterized by an asymptomatic course and slow growth. However, up to 19% of tumors can metastasize. Due to the rarity of this tumor, information about VPGL is limited to single cases and small sample sets; the data on molecular genetic features is extremely scarce. Methods: For the first time we have analyzed the enrichment of biological pathways associated with mutations in the SDHx genes in VPGLs. Bioinformatics analysis was performed based on the results of high-throughput transcriptome sequencing on an Illumina platform for 33 tumor tissues obtained from patients with vagal paragangliomas. Results: Eight pathways of the Kyoto Encyclopedia of Genes and Genomes (KEGG) database with gene overrepresentation (top-40 mode) have been identified. Significant changes were shown for the cancer-associated PI3K-Akt signaling pathway and interconnected pathways of focal adhesion and interaction of receptors with the extracellular matrix enriched by overexpressed genes. Conclusion: Our result indicates the association of SDHx mutations with changes in the PI3K-Akt signaling pathway in vagal paraganglioma. The potential mechanism of deregulation in this pathway could be linked with a state of pseudohypoxia induced by the dysfunction of succinate dehydrogenase due to mutations in the SDHx genes.https://scindeks-clanci.ceon.rs/data/pdf/0354-7310/2023/0354-73102302004S.pdfhead and neck paragangliomavagal paragangliomasdhx mutationshigh-throughput sequencingtranscriptomepi3k-akt signaling pathway |
| spellingShingle | Snezhkina Anastasiya V. Fedorova Maria S. Ayupova Asiya F. Pudova Elena A. Kobelyatskaya Anastasiya A. Kalinin Dmitry V. Golovyuk Alexander L. Krasnov George S. Pavlov Vladislav S. Kudryavtseva Anna V. SDHx mutations are associated with the PI3K-Akt signaling pathway in vagal paragangliomas Archive of Oncology head and neck paraganglioma vagal paraganglioma sdhx mutations high-throughput sequencing transcriptome pi3k-akt signaling pathway |
| title | SDHx mutations are associated with the PI3K-Akt signaling pathway in vagal paragangliomas |
| title_full | SDHx mutations are associated with the PI3K-Akt signaling pathway in vagal paragangliomas |
| title_fullStr | SDHx mutations are associated with the PI3K-Akt signaling pathway in vagal paragangliomas |
| title_full_unstemmed | SDHx mutations are associated with the PI3K-Akt signaling pathway in vagal paragangliomas |
| title_short | SDHx mutations are associated with the PI3K-Akt signaling pathway in vagal paragangliomas |
| title_sort | sdhx mutations are associated with the pi3k akt signaling pathway in vagal paragangliomas |
| topic | head and neck paraganglioma vagal paraganglioma sdhx mutations high-throughput sequencing transcriptome pi3k-akt signaling pathway |
| url | https://scindeks-clanci.ceon.rs/data/pdf/0354-7310/2023/0354-73102302004S.pdf |
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