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Case Study
- Thyroid pathology, a clue to PTEN hamartoma tumor syndrome
- Yurimi Lee, Young Lyun Oh
- J Pathol Transl Med. 2023;57(3):178-183. Published online March 30, 2023
- DOI: https://doi.org/10.4132/jptm.2023.03.04
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- 185 Download
- 8 Web of Science
- 5 Crossref
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Abstract
PDF - Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a hereditary disorder caused by germline inactivating mutations in the PTEN tumor suppressor gene. As a type of PHTS, Cowden syndrome is associated with abnormalities of the thyroid, breast, uterus, and gastrointestinal tract. A 52-year-old-woman visited the outpatient clinic of our endocrinology clinic with multiple thyroid nodules and Hashimoto's thyroiditis. Computed tomography imaging revealed a multinodular mass measuring up to 3.5 cm in the left thyroid lobe, causing laryngotracheal airway displacement. The total thyroidectomy specimen revealed multiple follicular adenomas and adenomatous nodules with lymphocytic thyroiditis and lipomatous metaplasia in the background. The patient was suspected of PTHS based on her thyroid pathology, family history, and numerous hamartomatous lesions of the breast, uterus, and skin. Her diagnosis was confirmed through molecular testing. This case demonstrates that pathologists must be well acquainted with thyroid pathology in PHTS.
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Citations
Citations to this article as recorded by
- A clinical case of papillary thyroid cancer associated with a PTEN gene defect
R. A. Atanesyan, L. Ja. Klimov, T. M. Vdovina, G. A. Saneeva, E. I. Andreeva, I. A. Stremenkova, R. I. Arakelyan, I. K. Gasparyan
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics).2025; 69(6): 85. CrossRef - Dedifferentiated Leiomyosarcoma of the Uterine Corpus with Heterologous Component: Clinicopathological Analysis of Five Consecutive Cases from a Single Institution and Comprehensive Literature Review
Suyeon Kim, Hyunsik Bae, Hyun-Soo Kim
Diagnostics.2024; 14(2): 160. CrossRef - Case report: Rare oral manifestations in Cowden syndrome with PTEN mutation
Wei Yuan, Yanbin Liu, Haibin Sun, Ming Su, Lizheng Qin, Xin Huang
Frontiers in Oncology.2024;[Epub] CrossRef - Can thyroid histomorphology identify patients with PTEN hamartoma tumour syndrome?
Melad N Dababneh, Laura Rabinowitz, Gilman Plitt, Charis Eng, Christopher C Griffith
Histopathology.2024; 85(6): 929. CrossRef - A novel mutation in PTEN in anaplastic thyroid carcinoma: A case report
Yanli Zhao
Biomedical Reports.2024;[Epub] CrossRef
- A clinical case of papillary thyroid cancer associated with a PTEN gene defect
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