A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer
We report the case of a woman with a sporadic medullary thyroid carcinoma. Genomic analysis found that her tumor did not contain any common RET mutations but did harbor a BRAF V600E mutation. Only one other well-confirmed example of the BRAF V600E mutation has been reported in an MTC patient. We con...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2020/7641940 |
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| _version_ | 1832555002076332032 |
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| author | Richard J. Robbins Jessica S. Thomas Patricia Mejia Osuna Jawairia Shakil |
| author_facet | Richard J. Robbins Jessica S. Thomas Patricia Mejia Osuna Jawairia Shakil |
| author_sort | Richard J. Robbins |
| collection | DOAJ |
| description | We report the case of a woman with a sporadic medullary thyroid carcinoma. Genomic analysis found that her tumor did not contain any common RET mutations but did harbor a BRAF V600E mutation. Only one other well-confirmed example of the BRAF V600E mutation has been reported in an MTC patient. We conclude that this common BRAF mutation may independently drive neoplastic transformation of human parafollicular C cells. |
| format | Article |
| id | doaj-art-77766fe6c5de4f43bae91a7c9de3eb04 |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-77766fe6c5de4f43bae91a7c9de3eb042025-02-03T05:49:55ZengWileyCase Reports in Endocrinology2090-65012090-651X2020-01-01202010.1155/2020/76419407641940A BRAF V600E Mutation in RET-Negative Medullary Thyroid CancerRichard J. Robbins0Jessica S. Thomas1Patricia Mejia Osuna2Jawairia Shakil3Weill Cornell Medicine, New York, NY, USAWeill Cornell Medicine, New York, NY, USAWeill Cornell Medicine, New York, NY, USADivision of Endocrinology, Diabetes, and Metabolism, Department of Medicine, Houston Methodist Hospital, Houston, TX, USAWe report the case of a woman with a sporadic medullary thyroid carcinoma. Genomic analysis found that her tumor did not contain any common RET mutations but did harbor a BRAF V600E mutation. Only one other well-confirmed example of the BRAF V600E mutation has been reported in an MTC patient. We conclude that this common BRAF mutation may independently drive neoplastic transformation of human parafollicular C cells.http://dx.doi.org/10.1155/2020/7641940 |
| spellingShingle | Richard J. Robbins Jessica S. Thomas Patricia Mejia Osuna Jawairia Shakil A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer Case Reports in Endocrinology |
| title | A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer |
| title_full | A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer |
| title_fullStr | A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer |
| title_full_unstemmed | A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer |
| title_short | A BRAF V600E Mutation in RET-Negative Medullary Thyroid Cancer |
| title_sort | braf v600e mutation in ret negative medullary thyroid cancer |
| url | http://dx.doi.org/10.1155/2020/7641940 |
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