Mutation profile of the tall cell variant of papillary thyroid carcinoma: analysis of 5 cases using wide-panel next-generation sequencing
The study objective is to analyze the mutation profile of the tall cell variant (TCV) of papillary thyroid carcinoma (PTC).Materials and methods. The main inclusion criteria according to the WHO classification (2017) was PTC composed of at least 30 % of tall cells. Genetic examination was conducted...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2021-04-01
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| Series: | Опухоли головы и шеи |
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| Online Access: | https://ogsh.abvpress.ru/jour/article/view/612 |
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| author | I. L. Plaksa M. R. Savchuk N. V. Shved N. A. Savelov D. N. Khmelkova А. A. Isaev R. V. Deev |
| author_facet | I. L. Plaksa M. R. Savchuk N. V. Shved N. A. Savelov D. N. Khmelkova А. A. Isaev R. V. Deev |
| author_sort | I. L. Plaksa |
| collection | DOAJ |
| description | The study objective is to analyze the mutation profile of the tall cell variant (TCV) of papillary thyroid carcinoma (PTC).Materials and methods. The main inclusion criteria according to the WHO classification (2017) was PTC composed of at least 30 % of tall cells. Genetic examination was conducted using the FoundationOne CDx assay (USA) with median depth of coverage of >500x. This study included 5 patients (1 man and 4 women) with a mean age of 52.6 years (range: 48-56 years). The tumor size varied between 0.4 x 0.5 cm and 11.0 x 9.0 cm. All patients have undergone surgical treatment: hemithyroidectomy for patient No. 1 with a small tumor (pT1b); thyroidectomy for patient No. 2 (pT3b); extensive thyroidectomy with the removal of paratracheal tissue for patients No. 3, 4, and 5 (No. 3 - pT3bN0; No. 4 - pT3bN1b; No. 5 - pT3bN1b). Three out of the five patients also had adenomatous goiter. The mean follow-up time was 3.4 to 5.2 years.Results. Tumors in all patients were characterized by low mutational load (0 to 4 mutations per 1 million nucleotides (megabase)) and no microsatellite instability. All study participants were found to have p.V600E mutation in the BRAF gene; two patients had c.-124C>T mutation in the promoter region of the TERT gene. All patients carried mutations with unknown clinical significance: p.V562I in the EPHB1 gene (in 2 patients); mutations in the genes AR, CREBBP, EP300, ERCC4, FLT1, IKBKE, JAK2, MAF, MLL2, MST1R, MYC, MYCL1, NTRK2, TSC2 (each mutation registered in one patient). One individual with the largest tumor and the most aggressive disease was found to have amplifications of the BTG2, MAP3K1, SMAD2, and TBX3 genes.Conclusion. In 5 patients analyzed in this study, the mutation profile of TCV PTC was characterized by low mutational load, no microsatellite instability, and presence of p.V600E mutation in the BRAF gene in all cases. Some patients also had c.-124C>T mutation in the TERT gene and p.V562I mutation in the EPHB1 gene. |
| first_indexed | 2024-04-10T01:59:18Z |
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| id | doaj.art-fc0d832963a04fae9e4c4dde5951e593 |
| institution | Directory Open Access Journal |
| issn | 2222-1468 2411-4634 |
| language | Russian |
| last_indexed | 2024-04-10T01:59:18Z |
| publishDate | 2021-04-01 |
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| series | Опухоли головы и шеи |
| spelling | doaj.art-fc0d832963a04fae9e4c4dde5951e5932023-03-13T08:43:21ZrusABV-pressОпухоли головы и шеи2222-14682411-46342021-04-01111788510.17650/2222-1468-2021-11-1-78-85431Mutation profile of the tall cell variant of papillary thyroid carcinoma: analysis of 5 cases using wide-panel next-generation sequencingI. L. Plaksa0M. R. Savchuk1N. V. Shved2N. A. Savelov3D. N. Khmelkova4А. A. Isaev5R. V. Deev6ГБУЗ Ленинградский областной клинический онкологический диспансер; Центр генетики и репродуктивной медицины Генетико, ОООЦентр генетики и репродуктивной медицины Генетико, ООО; ФГБОУ ВО Рязанский государственный медицинский университет им. акад. И.П. Павлова Минздрава РоссииФГБОУ ВО Северо-Западный государственный медицинский университет им. И.И. Мечникова Минздрава РоссииГБУЗ Московская городская онкологическая больница № 62 Департамента здравоохранения г. МосквыЦентр генетики и репродуктивной медицины Генетико, ОООЦентр генетики и репродуктивной медицины Генетико, ОООФГБОУ ВО Северо-Западный государственный медицинский университет им. И.И. Мечникова Минздрава РоссииThe study objective is to analyze the mutation profile of the tall cell variant (TCV) of papillary thyroid carcinoma (PTC).Materials and methods. The main inclusion criteria according to the WHO classification (2017) was PTC composed of at least 30 % of tall cells. Genetic examination was conducted using the FoundationOne CDx assay (USA) with median depth of coverage of >500x. This study included 5 patients (1 man and 4 women) with a mean age of 52.6 years (range: 48-56 years). The tumor size varied between 0.4 x 0.5 cm and 11.0 x 9.0 cm. All patients have undergone surgical treatment: hemithyroidectomy for patient No. 1 with a small tumor (pT1b); thyroidectomy for patient No. 2 (pT3b); extensive thyroidectomy with the removal of paratracheal tissue for patients No. 3, 4, and 5 (No. 3 - pT3bN0; No. 4 - pT3bN1b; No. 5 - pT3bN1b). Three out of the five patients also had adenomatous goiter. The mean follow-up time was 3.4 to 5.2 years.Results. Tumors in all patients were characterized by low mutational load (0 to 4 mutations per 1 million nucleotides (megabase)) and no microsatellite instability. All study participants were found to have p.V600E mutation in the BRAF gene; two patients had c.-124C>T mutation in the promoter region of the TERT gene. All patients carried mutations with unknown clinical significance: p.V562I in the EPHB1 gene (in 2 patients); mutations in the genes AR, CREBBP, EP300, ERCC4, FLT1, IKBKE, JAK2, MAF, MLL2, MST1R, MYC, MYCL1, NTRK2, TSC2 (each mutation registered in one patient). One individual with the largest tumor and the most aggressive disease was found to have amplifications of the BTG2, MAP3K1, SMAD2, and TBX3 genes.Conclusion. In 5 patients analyzed in this study, the mutation profile of TCV PTC was characterized by low mutational load, no microsatellite instability, and presence of p.V600E mutation in the BRAF gene in all cases. Some patients also had c.-124C>T mutation in the TERT gene and p.V562I mutation in the EPHB1 gene.https://ogsh.abvpress.ru/jour/article/view/612папиллярный рак щитовидной железы из высоких клетокbraftertephb1foundation one |
| spellingShingle | I. L. Plaksa M. R. Savchuk N. V. Shved N. A. Savelov D. N. Khmelkova А. A. Isaev R. V. Deev Mutation profile of the tall cell variant of papillary thyroid carcinoma: analysis of 5 cases using wide-panel next-generation sequencing Опухоли головы и шеи папиллярный рак щитовидной железы из высоких клеток braf tert ephb1 foundation one |
| title | Mutation profile of the tall cell variant of papillary thyroid carcinoma: analysis of 5 cases using wide-panel next-generation sequencing |
| title_full | Mutation profile of the tall cell variant of papillary thyroid carcinoma: analysis of 5 cases using wide-panel next-generation sequencing |
| title_fullStr | Mutation profile of the tall cell variant of papillary thyroid carcinoma: analysis of 5 cases using wide-panel next-generation sequencing |
| title_full_unstemmed | Mutation profile of the tall cell variant of papillary thyroid carcinoma: analysis of 5 cases using wide-panel next-generation sequencing |
| title_short | Mutation profile of the tall cell variant of papillary thyroid carcinoma: analysis of 5 cases using wide-panel next-generation sequencing |
| title_sort | mutation profile of the tall cell variant of papillary thyroid carcinoma analysis of 5 cases using wide panel next generation sequencing |
| topic | папиллярный рак щитовидной железы из высоких клеток braf tert ephb1 foundation one |
| url | https://ogsh.abvpress.ru/jour/article/view/612 |
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