Characteristics of <i>PTEN</i> Mutation in Thyroid Tumours: A Retrospective Chart Review
While some studies suggest that <i>PTEN</i> mutations correlate with a low-risk phenotype in pediatric thyroid nodules, the relationship between the mutation and malignancy in the adult populations is abstruse. This study investigated whether <i>PTEN</i> mutations result in t...
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| Format: | Article |
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MDPI AG
2023-03-01
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| Series: | Cancers |
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| Online Access: | https://www.mdpi.com/2072-6694/15/5/1575 |
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| author | Saruchi Bandargal Mohannad Rajab Véronique-Isabelle Forest Marc Philippe Pusztaszeri Michael P. Hier Sabrina Daniela da Silva Richard J. Payne |
| author_facet | Saruchi Bandargal Mohannad Rajab Véronique-Isabelle Forest Marc Philippe Pusztaszeri Michael P. Hier Sabrina Daniela da Silva Richard J. Payne |
| author_sort | Saruchi Bandargal |
| collection | DOAJ |
| description | While some studies suggest that <i>PTEN</i> mutations correlate with a low-risk phenotype in pediatric thyroid nodules, the relationship between the mutation and malignancy in the adult populations is abstruse. This study investigated whether <i>PTEN</i> mutations result in thyroid malignancy, and whether these malignancies are aggressive. This multicenter study involved 316 patients who underwent preoperative molecular testing, and subsequent lobectomy or total thyroidectomy at two quaternary care hospitals. A four-year retrospective review was performed on the 16 charts of patients that opted for surgery following a positive <i>PTEN</i> mutation on molecular testing results from January 2018 to December 2021. Of the total 16 patients, 37.5% (<i>n</i> = 6) had malignant tumours, 18.75% (<i>n</i> = 3) had non-invasive follicular thyroid neoplasms with papillary-like nuclear features (NIFTPs), and 43.75% (<i>n</i> = 7) had benign disease. Aggressive features were detected in 33.33% of the malignant tumours. Malignant tumours were found to have a statistically significant higher allele frequency (AF). The aggressive nodules were all poorly differentiated thyroid carcinomas (PDTCs) with copy number alterations (CNAs) and the highest AFs. |
| first_indexed | 2024-03-11T07:29:16Z |
| format | Article |
| id | doaj.art-e9f8a14107844e9cbb87c7ad94f0b3d0 |
| institution | Directory Open Access Journal |
| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-11T07:29:16Z |
| publishDate | 2023-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cancers |
| spelling | doaj.art-e9f8a14107844e9cbb87c7ad94f0b3d02023-11-17T07:25:57ZengMDPI AGCancers2072-66942023-03-01155157510.3390/cancers15051575Characteristics of <i>PTEN</i> Mutation in Thyroid Tumours: A Retrospective Chart ReviewSaruchi Bandargal0Mohannad Rajab1Véronique-Isabelle Forest2Marc Philippe Pusztaszeri3Michael P. Hier4Sabrina Daniela da Silva5Richard J. Payne6Faculty of Medicine, McGill University, Montreal, QC H3G 2M1, CanadaDepartment of Otolaryngology—Head and Neck Surgery, King Faisal Specialist Hospital & Research Center, Al Madinah Al Munawwarah 42523, Saudi ArabiaDepartment of Otolaryngology—Head and Neck Surgery, McGill University, Jewish General Hospital, Montreal, QC H3T 1E2, CanadaDepartment of Pathology, McGill University, Jewish General Hospital, Montreal, QC H3T 1E2, CanadaDepartment of Otolaryngology—Head and Neck Surgery, McGill University, Jewish General Hospital, Montreal, QC H3T 1E2, CanadaDepartment of Otolaryngology—Head and Neck Surgery, McGill University, Jewish General Hospital, Montreal, QC H3T 1E2, CanadaDepartment of Otolaryngology—Head and Neck Surgery, McGill University, Jewish General Hospital, Montreal, QC H3T 1E2, CanadaWhile some studies suggest that <i>PTEN</i> mutations correlate with a low-risk phenotype in pediatric thyroid nodules, the relationship between the mutation and malignancy in the adult populations is abstruse. This study investigated whether <i>PTEN</i> mutations result in thyroid malignancy, and whether these malignancies are aggressive. This multicenter study involved 316 patients who underwent preoperative molecular testing, and subsequent lobectomy or total thyroidectomy at two quaternary care hospitals. A four-year retrospective review was performed on the 16 charts of patients that opted for surgery following a positive <i>PTEN</i> mutation on molecular testing results from January 2018 to December 2021. Of the total 16 patients, 37.5% (<i>n</i> = 6) had malignant tumours, 18.75% (<i>n</i> = 3) had non-invasive follicular thyroid neoplasms with papillary-like nuclear features (NIFTPs), and 43.75% (<i>n</i> = 7) had benign disease. Aggressive features were detected in 33.33% of the malignant tumours. Malignant tumours were found to have a statistically significant higher allele frequency (AF). The aggressive nodules were all poorly differentiated thyroid carcinomas (PDTCs) with copy number alterations (CNAs) and the highest AFs.https://www.mdpi.com/2072-6694/15/5/1575<i>PTEN</i> mutationthyroid cancerThyGeNEXTThyroSeq v3differentiated thyroid cancer |
| spellingShingle | Saruchi Bandargal Mohannad Rajab Véronique-Isabelle Forest Marc Philippe Pusztaszeri Michael P. Hier Sabrina Daniela da Silva Richard J. Payne Characteristics of <i>PTEN</i> Mutation in Thyroid Tumours: A Retrospective Chart Review Cancers <i>PTEN</i> mutation thyroid cancer ThyGeNEXT ThyroSeq v3 differentiated thyroid cancer |
| title | Characteristics of <i>PTEN</i> Mutation in Thyroid Tumours: A Retrospective Chart Review |
| title_full | Characteristics of <i>PTEN</i> Mutation in Thyroid Tumours: A Retrospective Chart Review |
| title_fullStr | Characteristics of <i>PTEN</i> Mutation in Thyroid Tumours: A Retrospective Chart Review |
| title_full_unstemmed | Characteristics of <i>PTEN</i> Mutation in Thyroid Tumours: A Retrospective Chart Review |
| title_short | Characteristics of <i>PTEN</i> Mutation in Thyroid Tumours: A Retrospective Chart Review |
| title_sort | characteristics of i pten i mutation in thyroid tumours a retrospective chart review |
| topic | <i>PTEN</i> mutation thyroid cancer ThyGeNEXT ThyroSeq v3 differentiated thyroid cancer |
| url | https://www.mdpi.com/2072-6694/15/5/1575 |
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