Co-Occurrence of Hotspot Point Mutation and Novel Deletion Mutation of <i>TERT</i> Promoter in Solid Variant Papillary Thyroid Carcinoma in a Patient with Synchronous Esophageal Cancer
(1) Introduction: Telomerase reverse transcriptase (TERT) promoter mutations are associated with unfavorable clinical outcomes in papillary thyroid carcinomas (PTCs). Two substitution mutations, C228T (c.1-124C>T) and C250T (c.1-146C>T), make up most of the mutations and occur in a mutually ex...
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-12-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/11/1/4 |
| _version_ | 1797543851932516352 |
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| author | Jiheun Han Young Lyun Oh Jung-Sun Kim |
| author_facet | Jiheun Han Young Lyun Oh Jung-Sun Kim |
| author_sort | Jiheun Han |
| collection | DOAJ |
| description | (1) Introduction: Telomerase reverse transcriptase (TERT) promoter mutations are associated with unfavorable clinical outcomes in papillary thyroid carcinomas (PTCs). Two substitution mutations, C228T (c.1-124C>T) and C250T (c.1-146C>T), make up most of the mutations and occur in a mutually exclusive manner. (2) Case presentation: A 72-year-old man was initially referred to a tertiary hospital for treatment of esophageal cancer. Preoperative imaging revealed a 3.2 cm thyroid nodule pathologically diagnosed as PTC on needle biopsy. The patient underwent thyroid lobectomy with esophagectomy and was finally diagnosed with synchronous solid variant PTC (SVPTC) and esophageal squamous cell carcinoma. Sanger sequencing using DNA from the thyroid tumor showed an indel mutation, c.1-132_1-124delinsT, composed of a deletion (c.1-132_1-125del) as well as a hotspot mutation (c.1-124C>T(C228T)) in the TERT promoter. (3) Conclusions: This is the first report of PTC harboring a novel deletion along with a hotspot mutation in the TERT promoter in a patient with synchronous esophageal squamous cell carcinoma. |
| first_indexed | 2024-03-10T13:52:19Z |
| format | Article |
| id | doaj.art-72a3811848594485a000b56ae13a60bd |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-10T13:52:19Z |
| publishDate | 2020-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-72a3811848594485a000b56ae13a60bd2023-11-21T02:02:36ZengMDPI AGDiagnostics2075-44182020-12-01111410.3390/diagnostics11010004Co-Occurrence of Hotspot Point Mutation and Novel Deletion Mutation of <i>TERT</i> Promoter in Solid Variant Papillary Thyroid Carcinoma in a Patient with Synchronous Esophageal CancerJiheun Han0Young Lyun Oh1Jung-Sun Kim2Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, KoreaDepartment of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, KoreaDepartment of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea(1) Introduction: Telomerase reverse transcriptase (TERT) promoter mutations are associated with unfavorable clinical outcomes in papillary thyroid carcinomas (PTCs). Two substitution mutations, C228T (c.1-124C>T) and C250T (c.1-146C>T), make up most of the mutations and occur in a mutually exclusive manner. (2) Case presentation: A 72-year-old man was initially referred to a tertiary hospital for treatment of esophageal cancer. Preoperative imaging revealed a 3.2 cm thyroid nodule pathologically diagnosed as PTC on needle biopsy. The patient underwent thyroid lobectomy with esophagectomy and was finally diagnosed with synchronous solid variant PTC (SVPTC) and esophageal squamous cell carcinoma. Sanger sequencing using DNA from the thyroid tumor showed an indel mutation, c.1-132_1-124delinsT, composed of a deletion (c.1-132_1-125del) as well as a hotspot mutation (c.1-124C>T(C228T)) in the TERT promoter. (3) Conclusions: This is the first report of PTC harboring a novel deletion along with a hotspot mutation in the TERT promoter in a patient with synchronous esophageal squamous cell carcinoma.https://www.mdpi.com/2075-4418/11/1/4TERTpromoterthyroidpapillary carcinomasolid |
| spellingShingle | Jiheun Han Young Lyun Oh Jung-Sun Kim Co-Occurrence of Hotspot Point Mutation and Novel Deletion Mutation of <i>TERT</i> Promoter in Solid Variant Papillary Thyroid Carcinoma in a Patient with Synchronous Esophageal Cancer Diagnostics TERT promoter thyroid papillary carcinoma solid |
| title | Co-Occurrence of Hotspot Point Mutation and Novel Deletion Mutation of <i>TERT</i> Promoter in Solid Variant Papillary Thyroid Carcinoma in a Patient with Synchronous Esophageal Cancer |
| title_full | Co-Occurrence of Hotspot Point Mutation and Novel Deletion Mutation of <i>TERT</i> Promoter in Solid Variant Papillary Thyroid Carcinoma in a Patient with Synchronous Esophageal Cancer |
| title_fullStr | Co-Occurrence of Hotspot Point Mutation and Novel Deletion Mutation of <i>TERT</i> Promoter in Solid Variant Papillary Thyroid Carcinoma in a Patient with Synchronous Esophageal Cancer |
| title_full_unstemmed | Co-Occurrence of Hotspot Point Mutation and Novel Deletion Mutation of <i>TERT</i> Promoter in Solid Variant Papillary Thyroid Carcinoma in a Patient with Synchronous Esophageal Cancer |
| title_short | Co-Occurrence of Hotspot Point Mutation and Novel Deletion Mutation of <i>TERT</i> Promoter in Solid Variant Papillary Thyroid Carcinoma in a Patient with Synchronous Esophageal Cancer |
| title_sort | co occurrence of hotspot point mutation and novel deletion mutation of i tert i promoter in solid variant papillary thyroid carcinoma in a patient with synchronous esophageal cancer |
| topic | TERT promoter thyroid papillary carcinoma solid |
| url | https://www.mdpi.com/2075-4418/11/1/4 |
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