Thyroid pathology, a clue to PTEN hamartoma tumor syndrome
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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.
Abstract
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.
참고문헌 (19)
- Cameselle-Teijeiro J, "Thyroid pathology findings in Cowden syndrome : a clue for the diagnosis of the PTEN hamartoma tumor syndrome", Am J Clin Pathol, 144, pp.322~328 (2015)
- Pilarski R, "Cowden syndrome and the PTEN hamartoma tumor syndrome : systematic review and revised diagnostic criteria", J Natl Cancer Inst, 105, pp.1607~1616 (2013)
- Pilarski R, "PTEN hamartoma tumor syndrome : a clinical overview", Cancers (Basel), 11, pp.844~ (2019)
- 손지희, "Cowden Disease: Case Report and Review of the Literature", Annals of Dermatology, 31(3), pp.325~330 (2019), 대한피부과학회[DOI]
- Harach HR, "Thyroid pathologic findings in patients with Cowden disease", Ann Diagn Pathol, 3, pp.331~340 (1999)
- Laury AR, "Thyroid pathology in PTEN-hamartoma tumor syndrome : characteristic findings of a distinct entity", Thyroid, 21, pp.135~144 (2011)
- Chen CY, "PTEN : tumor suppressor and metabolic regulator", Front Endocrinol (Lausanne), 9, pp.338~ (2018)
- Yehia L, "GeneReviews" (1993), University of Washington
- Daly MB, "NCCN guidelines insights : genetic", familial high-risk assessment : breast, ovarian, and pancreatic, version 1. 2020, 2020, pp.18, 380~391
- Oh JG, "Case of Cowden syndrome associated with eccrine angiomatous hamartoma", J Dermatol, 34, pp.135~137 (2007)
- Pilarski R, "Predicting PTEN mutations : an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features", J Med Genet, 48, pp.505~512 (2011)
- Tan MH, "A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands", Am J Hum Genet, 88, pp.42~56 (2011)
- Barletta JA, "Immunohistochemical staining of thyroidectomy specimens for PTEN can aid in the identification of patients with Cowden syndrome", Am J Surg Pathol, 35, pp.1505~1511 (2011)
- Hoda SA, "Diagnostic pathology and molecular genetics of the thyroid : a comprehensive guide for practicing thyroid pathology", Am J Clin Pathol, 152, pp.115~ (2019)
- Nelen MR, "Novel PTEN mutations in patients with Cowden disease : absence of clear genotype-phenotype correlations", Eur J Hum Genet, 7, pp.267~273 (1999)
- Tischkowitz M, "Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome", Eur J Hum Genet, 28, pp.1387~1393 (2020)
- Bubien V, "High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome", J Med Genet, 50, pp.255~263 (2013)
- Nieuwenhuis MH, "Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome", Fam Cancer, 13, pp.57~63 (2014)
- Tan MH, "Lifetime cancer risks in individuals with germline PTEN mutations", Clin Cancer Res, 18, pp.400~407 (2012)