Identification of a Novel Non-V600E BRAF Mutation in Papillary Thyroid Cancer
Papillary thyroid cancer (PTC) is a common endocrine malignancy, and its incidence is reported to be constantly increasing. BRAF mutation is detected in approximately 44% of PTCs, and the most common BRAF mutation is thymine (T) to adenine (A) missense mutation in nucleotide 1796 (T1796A, V600E). Al...
Saved in:
| Main Authors: | , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-01-01
|
| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2024/6621510 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832559632764108800 |
|---|---|
| author | Marco Capezzone Maja Rossi Elisabetta Macerola Silvia Cantara Francesco Pepe Eugenia Maria Morabito Gilda Dalmazio Sara Bardi Agostino Ognibene Massimo Alessandri Gabriele Materazzi Luigi De Napoli Michele Cirianni Liborio Torregrossa |
| author_facet | Marco Capezzone Maja Rossi Elisabetta Macerola Silvia Cantara Francesco Pepe Eugenia Maria Morabito Gilda Dalmazio Sara Bardi Agostino Ognibene Massimo Alessandri Gabriele Materazzi Luigi De Napoli Michele Cirianni Liborio Torregrossa |
| author_sort | Marco Capezzone |
| collection | DOAJ |
| description | Papillary thyroid cancer (PTC) is a common endocrine malignancy, and its incidence is reported to be constantly increasing. BRAF mutation is detected in approximately 44% of PTCs, and the most common BRAF mutation is thymine (T) to adenine (A) missense mutation in nucleotide 1796 (T1796A, V600E). Although BRAFV600E represents 95% of all BRAF mutations, uncommon BRAF mutations have been reported in thyroid carcinomas and represent an alternative mechanism of BRAF activation with unclear clinical significance. We report a novel non-V600E mutation (c.1799_1812delinsAT, p.V600_W604delinsD), identified preoperatively with next-generation sequencing (NGS) on the material obtained with fine-needle aspiration cytology (FNAC) performed on a thyroid nodule cytologically suspicious for malignancy in a 35-year-old male patient. The presence of this new variant of BRAF mutation was subsequently confirmed in the postoperative phase by direct Sanger sequencing. In conclusion, we report a new non-V600E variant previously undetected in papillary thyroid cancer. In addition, this case report shows that the NGS technique on cytological tissue allows to detect the presence of rare mutations, thus increasing the diagnostic specificity of molecular analysis. |
| format | Article |
| id | doaj-art-793009688aaa444f84f561129d0d822e |
| institution | Kabale University |
| issn | 2090-651X |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-793009688aaa444f84f561129d0d822e2025-02-03T01:29:36ZengWileyCase Reports in Endocrinology2090-651X2024-01-01202410.1155/2024/6621510Identification of a Novel Non-V600E BRAF Mutation in Papillary Thyroid CancerMarco Capezzone0Maja Rossi1Elisabetta Macerola2Silvia Cantara3Francesco Pepe4Eugenia Maria Morabito5Gilda Dalmazio6Sara Bardi7Agostino Ognibene8Massimo Alessandri9Gabriele Materazzi10Luigi De Napoli11Michele Cirianni12Liborio Torregrossa13UOSD of EndocrinologyUOS Molecular PathologyDepartment of SurgicalDepartment of MedicalDepartment of Public HealthUOSD of EndocrinologyUOSD of EndocrinologyUOS Molecular PathologyUOS Molecular PathologyUOSD of EndocrinologyDivision of Endocrine SurgeryDivision of Endocrine SurgeryUOS Molecular PathologyDepartment of SurgicalPapillary thyroid cancer (PTC) is a common endocrine malignancy, and its incidence is reported to be constantly increasing. BRAF mutation is detected in approximately 44% of PTCs, and the most common BRAF mutation is thymine (T) to adenine (A) missense mutation in nucleotide 1796 (T1796A, V600E). Although BRAFV600E represents 95% of all BRAF mutations, uncommon BRAF mutations have been reported in thyroid carcinomas and represent an alternative mechanism of BRAF activation with unclear clinical significance. We report a novel non-V600E mutation (c.1799_1812delinsAT, p.V600_W604delinsD), identified preoperatively with next-generation sequencing (NGS) on the material obtained with fine-needle aspiration cytology (FNAC) performed on a thyroid nodule cytologically suspicious for malignancy in a 35-year-old male patient. The presence of this new variant of BRAF mutation was subsequently confirmed in the postoperative phase by direct Sanger sequencing. In conclusion, we report a new non-V600E variant previously undetected in papillary thyroid cancer. In addition, this case report shows that the NGS technique on cytological tissue allows to detect the presence of rare mutations, thus increasing the diagnostic specificity of molecular analysis.http://dx.doi.org/10.1155/2024/6621510 |
| spellingShingle | Marco Capezzone Maja Rossi Elisabetta Macerola Silvia Cantara Francesco Pepe Eugenia Maria Morabito Gilda Dalmazio Sara Bardi Agostino Ognibene Massimo Alessandri Gabriele Materazzi Luigi De Napoli Michele Cirianni Liborio Torregrossa Identification of a Novel Non-V600E BRAF Mutation in Papillary Thyroid Cancer Case Reports in Endocrinology |
| title | Identification of a Novel Non-V600E BRAF Mutation in Papillary Thyroid Cancer |
| title_full | Identification of a Novel Non-V600E BRAF Mutation in Papillary Thyroid Cancer |
| title_fullStr | Identification of a Novel Non-V600E BRAF Mutation in Papillary Thyroid Cancer |
| title_full_unstemmed | Identification of a Novel Non-V600E BRAF Mutation in Papillary Thyroid Cancer |
| title_short | Identification of a Novel Non-V600E BRAF Mutation in Papillary Thyroid Cancer |
| title_sort | identification of a novel non v600e braf mutation in papillary thyroid cancer |
| url | http://dx.doi.org/10.1155/2024/6621510 |
| work_keys_str_mv | AT marcocapezzone identificationofanovelnonv600ebrafmutationinpapillarythyroidcancer AT majarossi identificationofanovelnonv600ebrafmutationinpapillarythyroidcancer AT elisabettamacerola identificationofanovelnonv600ebrafmutationinpapillarythyroidcancer AT silviacantara identificationofanovelnonv600ebrafmutationinpapillarythyroidcancer AT francescopepe identificationofanovelnonv600ebrafmutationinpapillarythyroidcancer AT eugeniamariamorabito identificationofanovelnonv600ebrafmutationinpapillarythyroidcancer AT gildadalmazio identificationofanovelnonv600ebrafmutationinpapillarythyroidcancer AT sarabardi identificationofanovelnonv600ebrafmutationinpapillarythyroidcancer AT agostinoognibene identificationofanovelnonv600ebrafmutationinpapillarythyroidcancer AT massimoalessandri identificationofanovelnonv600ebrafmutationinpapillarythyroidcancer AT gabrielematerazzi identificationofanovelnonv600ebrafmutationinpapillarythyroidcancer AT luigidenapoli identificationofanovelnonv600ebrafmutationinpapillarythyroidcancer AT michelecirianni identificationofanovelnonv600ebrafmutationinpapillarythyroidcancer AT liboriotorregrossa identificationofanovelnonv600ebrafmutationinpapillarythyroidcancer |