Assessment of the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation Sequencing Article Swipe
Ha Young Park
,
Joong Seob Lee
,
Jee Hye Wee
,
Jeong Wook Kang
,
Eun Soo Kim
,
Taeryool Koo
,
Hee Sung Hwang
,
Hyo Jung Kim
,
Ho Suk Kang
,
Hyun Lim
,
Nan Young Kim
,
Eun Sook Nam
,
Seong Jin Cho
,
Mi Jung Kwon
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3390/biomedicines11030851
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.3390/biomedicines11030851
Data regarding driver mutation profiles in tonsillar squamous cell carcinomas (TSCCs) remain scarce, limiting the understanding of its pathogenesis and unexpected behavior in the updated staging system. We investigated the incidence of clinically relevant mutations and their contribution in the prognosis of the condition, and their association with human papillomavirus (HPV) infection and adjuvant therapy. We subjected 43 surgically resected TSCC samples to targeted next-generation sequencing, determined their HPV status using polymerase chain reaction, and performed The Cancer Genomic Atlas and Gene Set Enrichment analyses. Thirty-five TSCC samples (81.4%) showed at least one oncogenic/likely oncogenic mutation among twenty-nine cancer-related genes. The top five mutated genes were TP53 (46.5%), PIK3CA (25.6%), PTEN (18.6%), EGFR (16.3%), and SMAD4 (14.0%). The EGFR pathway was the most frequently affected (51.2%), followed by the p53 (48.8%), PI3K (39.5%), and RTK (34.9%) pathways. The gene set enrichment analysis confirmed that the genes involved in signal transduction, such as growth factor receptors and second messengers, EGFR tyrosine kinase inhibitors, and PI3K signaling pathways, were mostly related with TSCCs. TP53 mutation was an independent prognostic factor predicting worse overall survival in the adjuvant therapy group. RTK mutations were related to survival in all patients and in the HPV-positive group, but multivariate analyses showed no significance. In conclusion, oncogenic/likely oncogenic mutations were relatively high in TSCCs, and TP53 and RTK mutations may be candidate predictors for poor prognosis in the adjuvant therapy and HPV-positive groups, respectively, under the updated staging system.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/biomedicines11030851
- https://www.mdpi.com/2227-9059/11/3/851/pdf?version=1678448081
- OA Status
- gold
- Cited By
- 7
- References
- 47
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4324054618
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4324054618Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3390/biomedicines11030851Digital Object Identifier
- Title
-
Assessment of the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation SequencingWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-03-10Full publication date if available
- Authors
-
Ha Young Park, Joong Seob Lee, Jee Hye Wee, Jeong Wook Kang, Eun Soo Kim, Taeryool Koo, Hee Sung Hwang, Hyo Jung Kim, Ho Suk Kang, Hyun Lim, Nan Young Kim, Eun Sook Nam, Seong Jin Cho, Mi Jung KwonList of authors in order
- Landing page
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https://doi.org/10.3390/biomedicines11030851Publisher landing page
- PDF URL
-
https://www.mdpi.com/2227-9059/11/3/851/pdf?version=1678448081Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://www.mdpi.com/2227-9059/11/3/851/pdf?version=1678448081Direct OA link when available
- Concepts
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PTEN, Cancer research, Biology, Mutation, Cancer, Targeted therapy, Gene, Oncology, PI3K/AKT/mTOR pathway, Signal transduction, Internal medicine, Medicine, GeneticsTop concepts (fields/topics) attached by OpenAlex
- Cited by
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7Total citation count in OpenAlex
- Citations by year (recent)
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2025: 1, 2024: 4, 2023: 2Per-year citation counts (last 5 years)
- References (count)
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47Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.affected | 124 |
| abstract_inverted_index.analyses | 203 |
| abstract_inverted_index.analysis | 141 |
| abstract_inverted_index.behavior | 21 |
| abstract_inverted_index.followed | 126 |
| abstract_inverted_index.involved | 146 |
| abstract_inverted_index.limiting | 13 |
| abstract_inverted_index.mutation | 3, 95, 172 |
| abstract_inverted_index.patients | 195 |
| abstract_inverted_index.profiles | 4 |
| abstract_inverted_index.relevant | 33 |
| abstract_inverted_index.resected | 59 |
| abstract_inverted_index.squamous | 7 |
| abstract_inverted_index.survival | 181, 192 |
| abstract_inverted_index.targeted | 63 |
| abstract_inverted_index.therapy. | 54 |
| abstract_inverted_index.tyrosine | 159 |
| abstract_inverted_index.analyses. | 84 |
| abstract_inverted_index.candidate | 224 |
| abstract_inverted_index.confirmed | 142 |
| abstract_inverted_index.incidence | 30 |
| abstract_inverted_index.infection | 51 |
| abstract_inverted_index.mutations | 34, 188, 211, 221 |
| abstract_inverted_index.oncogenic | 94, 210 |
| abstract_inverted_index.pathways, | 165 |
| abstract_inverted_index.pathways. | 136 |
| abstract_inverted_index.performed | 75 |
| abstract_inverted_index.prognosis | 40, 228 |
| abstract_inverted_index.reaction, | 73 |
| abstract_inverted_index.receptors | 154 |
| abstract_inverted_index.regarding | 1 |
| abstract_inverted_index.signaling | 164 |
| abstract_inverted_index.subjected | 56 |
| abstract_inverted_index.tonsillar | 6 |
| abstract_inverted_index.Enrichment | 83 |
| abstract_inverted_index.carcinomas | 9 |
| abstract_inverted_index.clinically | 32 |
| abstract_inverted_index.condition, | 43 |
| abstract_inverted_index.determined | 66 |
| abstract_inverted_index.enrichment | 140 |
| abstract_inverted_index.frequently | 123 |
| abstract_inverted_index.polymerase | 71 |
| abstract_inverted_index.predicting | 178 |
| abstract_inverted_index.predictors | 225 |
| abstract_inverted_index.prognostic | 176 |
| abstract_inverted_index.relatively | 213 |
| abstract_inverted_index.surgically | 58 |
| abstract_inverted_index.unexpected | 20 |
| abstract_inverted_index.Thirty-five | 85 |
| abstract_inverted_index.association | 46 |
| abstract_inverted_index.conclusion, | 208 |
| abstract_inverted_index.independent | 175 |
| abstract_inverted_index.inhibitors, | 161 |
| abstract_inverted_index.messengers, | 157 |
| abstract_inverted_index.sequencing, | 65 |
| abstract_inverted_index.twenty-nine | 97 |
| abstract_inverted_index.HPV-positive | 199, 234 |
| abstract_inverted_index.contribution | 37 |
| abstract_inverted_index.investigated | 28 |
| abstract_inverted_index.multivariate | 202 |
| abstract_inverted_index.pathogenesis | 18 |
| abstract_inverted_index.respectively, | 236 |
| abstract_inverted_index.significance. | 206 |
| abstract_inverted_index.transduction, | 149 |
| abstract_inverted_index.understanding | 15 |
| abstract_inverted_index.cancer-related | 98 |
| abstract_inverted_index.papillomavirus | 49 |
| abstract_inverted_index.next-generation | 64 |
| abstract_inverted_index.oncogenic/likely | 93, 209 |
| cited_by_percentile_year.max | 98 |
| cited_by_percentile_year.min | 91 |
| corresponding_author_ids | https://openalex.org/A5035365873 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 14 |
| corresponding_institution_ids | https://openalex.org/I4210159787 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/1 |
| sustainable_development_goals[0].score | 0.46000000834465027 |
| sustainable_development_goals[0].display_name | No poverty |
| citation_normalized_percentile.value | 0.89345558 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |