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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 https://doi.org/10.21508/1027-4065-2024-69-6-85-90
Abstract
The incidence of malignant neoplasms associated with solitary thyroid nodules is higher in children than in adults. The diagnosis of nodular thyroid pathology in pediatric practice clearly requires particular attention. Clinical history should include an assessment of risk factors for malignant tumors and a family history. Thyroid tumors are observed in certain syndromes, such as Carney complex, familial adenomatous polyposis, and Cowden, DICER1, Werner, McCune–Albright, and Li–Fraumeni syndromes. This article presents a case of a highly differentiated thyroid tumor diagnosed in a 15-year-old boy. The distinct morphological features of the postoperative tissue indicated the need for molecular genetic testing in this patient. Genetic analysis revealed a mutation in a gene responsible for regulating cellular apoptosis, suggesting a diagnosis of Cowden syndrome in the patient. Cowden syndrome is a rare disorder associated with a mutation in the PTEN gene, characterized by multiple hamartomas in various organs. PTEN gene mutations lead to lesions in the skin, mucous membranes, thyroid gland, and fibrocystic mastopathy.
About the Authors
R. A. Atanesyan
Stavropol State Medical University; Regional Endocrinological Dispensary
Russian Federation
Russian Federation
Stavropol
L. Ja. Klimov
Stavropol State Medical University
Russian Federation
Russian Federation
Stavropol
T. M. Vdovina
Regional Clinical Perinatal Center №1
Russian Federation
Russian Federation
Stavropol
G. A. Saneeva
Stavropol State Medical University
Russian Federation
Russian Federation
Stavropol
E. I. Andreeva
Stavropol State Medical University
Russian Federation
Russian Federation
Stavropol
I. A. Stremenkova
Stavropol State Medical University
Russian Federation
Russian Federation
Stavropol
R. I. Arakelyan
Stavropol State Medical University
Russian Federation
Russian Federation
Stavropol
I. K. Gasparyan
Stavropol State Medical University
Russian Federation
Russian Federation
Stavropol
References
1. Sandy J.L., Titmuss A., Hameed S., Cho Y.H., Sandler G., Benitez-Aguirre P. Thyroid nodules in children and adolescents: Investigation and management. J Paediatr Child Health 2022; 58(12): 2163–2168. DOI: 10.1111/jpc.16257.
2. Rivkees S.A., Mazzaferri EL., Verburg F.A., Reiners C., Luster M., Breuer C.K. et al. The treatment of differentiated thyroid cancer in children: emphasis on surgical approach and radioactive iodine therapy. Endocr Rev 2011; 32(6): 798–826. DOI: 10.1210/er.2011–0011
3. Pemayun T.G. Current diagnosis and management of thyroid nodules. Acta Med Indones 2016; 48(3): 247–257.
4. Hogan A.R., Zhuge Y., Perez E.A., Koniaris L.G., Lew J.I., Sola J.E. Pediatric thyroid carcinoma: Incidence and outcomes in 1753 patients. Journal of Surgical Research 2009; 156(1): 167–172. DOI: 10.1016/j.jss.2009.03.098
5. Kamani T., Charkhchi P., Zahedi A., Akbari M.R. Genetic susceptibility to hereditary non-medullary thyroid cancer. Hered Cancer Clin Pract 2022; 20(1): 9. DOI: 10.1186/s13053–022–00215–3
6. Wells S.A. Jr., Pacini F., Robinson B.G., Santoro M. Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update. J Clin Endocrinol Metab 2013; 98(8): 3149–3164. DOI: 10.1210/jc.2013–1204
7. Pilarski R., Burt R., Kohlman W., Pho L., Shannon K.M., Swisher E. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst 2013; 105(21): 1607–1616. DOI: 10.1093/jnci/djt277
8. Pilarski R. PTEN hamartoma tumor syndrome: A clinical overview. Cancers (Basel) 2019; 11(6): 844. DOI: 10.3390/cancers11060844
9. Tischkowitz M., Colas C., Pouwels S., Hoogerbrugge N. PHTS Guideline Development Group; European Reference Network GENTURIS. Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome. Eur J Hum Genet 2020; 28(10) :1387–1393. DOI: 10.1038/s41431–020–0651–7
10. Tuli G., Munarin J., Mussa A., Carli D., Gastaldi R., Borgia P. et al. Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS). Endocrine 2021; 74(3): 632–637. DOI: 10.1007/s12020–021–02805-y
11. Bandargal S., Rajab M., Forest V.I., Pusztaszeri M.P., Hier M.P., da Silva S.D. et al. Characteristics of PTEN mutation in thyroid tumours: A retrospective chart review. Cancers (Basel) 2023; 15(5): 1575. DOI: 10.3390/cancers15051575
12. Rahmatinejad Z., Goshayeshi L., Bergquist R., Goshayeshi L., Golabpour A., Hoseini B. PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review. Diagn Pathol 2023; 18(1): 43. DOI: 10.1186/s13000–023–01331-x
13. Plamper M., Schreiner F., Gohlke B., Kionke J., Korsch E., Kirkpatrick J. et al. Thyroid disease in children and adolescents with PTEN hamartoma tumor syndrome (PHTS). Eur J Pediatr 2018; 177(3): 429–435. DOI: 10.1007/s00431–017–3067–9
14. Nosé V., Gill A., Teijeiro J.M.C., Perren A., Erickson L. Overview of the 2022 WHO classification of familial endocrine tumor syndromes. Endocr Pathol 2022; 33(1): 197–227. DOI: 10.1007/s12022–022–09705–5
15. Piccione M., Fragapane T., Antona V., Giachino D., Cupido F., Corsello G. PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol. Am J Med Genet A 2013; 161A(11): 2902–2908. DOI: 10.1002/ajmg.a.36266
16. Arai H., Akagi K., Nakagawa A., Onai Y., Utsu Y., Masuda S. et al. Clinical and genetic diagnosis of Cowden syndrome: A case report of a rare PTEN germline variant and diverse clinical presentation. Medicine (Baltimore) 2023; 102(1): e32572. DOI: 10.1097/MD.0000000000032572
17. Pal A., Barber T.M., Van de Bunt M., Rudge S.A., Zhang Q., Lachlan K.L. et al. PTEN mutations as a cause of constitutive insulin sensitivity and obesity. N Engl J Med 2012; 367(11): 1002–1011. DOI: 10.1056/NEJMoa1113966
18. Hoda S.A. Diagnostic pathology and molecular genetics of the thyroid: a comprehensive guide for practicing thyroid pathology. Am J Clin Pathol 2019; 152: 115. DOI: 10.1093/ajcp/aqz019
19. Bubien V., Bonnet F., Brouste V., Hoppe S., Barouk-Simonet E., David A. et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet 2013; 50(4): 255–263. DOI: 10.1136/jmedgenet-2012–101339
20. Lee Y., Oh Y.L. Thyroid pathology, a clue to PTEN hamartoma tumor syndrome. J Pathol Transl Med 2023; 57(3): 178– 183. DOI: 10.4132/jptm.2023.03.04
21. Daly M.B., Pal T., Berry M.P., Buys S.S., Dickson P., Domchek S.M. et al. Genetic/Familial high-risk assessment: breast, ovarian, and pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw 2021; 19(1): 77–102. DOI: 10.6004/jnccn.2021.0001
22. Magaña M., Landeta-Sa A.P., López-Flores Y. Cowden disease: A review. Am J Dermatopathol 2022; 44(10): 705–717. DOI: 10.1097/DAD.0000000000002234
23. Chen C.Y., Chen J., He L., Stiles B.L. PTEN: Tumor suppressor and metabolic regulator. Front Endocrinol (Lausanne) 2018; 9: 338. DOI: 10.3389/fendo.2018.00338
24. Tan M.H., Mester J.L., Ngeow J., Rybicki L.A., Orloff M.S., Eng C. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res 2012; 18(2): 400–407. DOI: 10.1158/1078–0432.CCR-11–2283
25. Pilarski R., Stephens J.A., Noss R., Fisher J.L., Prior T.W. Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. J Med Genet 2011; 48(8):505–512. DOI: 10.1136/jmg.2011.088807
26. Cameselle-Teijeiro J., Fachal C., Cabezas-Agrícola J.M., Alfonsín-Barreiro N., Abdulkader I., Vega-Gliemmo A. et al. Thyroid pathology findings in Cowden syndrome: A clue for the diagnosis of the PTEN hamartoma tumor syndrome. Am J Clin Pathol 2015; 144(2): 322–328. DOI: 10.1309/AJCP84INGJUVTBME
27. Harach H.R., Soubeyran I., Brown A., Bonneau D., Longy M. Thyroid pathologic findings in patients with Cowden disease. Ann Diagn Pathol 1999; 3(6): 331–340. DOI: 10.1016/s1092–9134(99)80011–2
28. Barletta J.A., Bellizzi A.M., Hornick J.L. Immunohistochemical staining of thyroidectomy specimens for PTEN can aid in the identification of patients with Cowden syndrome. Am J Surg Pathol 2011; 35(10): 1505–1511. DOI: 10.1097/PAS.0b013e31822fbc7d
29. Jonker L.A., Lebbink C.A., Jongmans M.C.J., Nievelstein R.A.J., Merks J.H.M., Nieveen van Dijkum E.J.M. et al. Recommendations on surveillance for differentiated thyroid carcinoma in children with PTEN hamartoma tumor syndrome. Eur Thyroid J 2020; 9(5): 234–242. DOI: 10.1159/000508872
30. Oh J.G., Yoon C.H., Lee C.W. Case of Cowden syndrome associated with eccrine angiomatous hamartoma. J Dermatol 2007; 34(2): 135–137. DOI: 10.1111/j.1346–8138.2006.00233.x
Review
For citations:
Atanesyan R.A., Klimov L.J., Vdovina T.M., Saneeva G.A., Andreeva E.I., Stremenkova I.A., Arakelyan R.I., Gasparyan I.K. A clinical case of papillary thyroid cancer associated with a PTEN gene defect. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2024;69(6):85-90. (In Russ.) https://doi.org/10.21508/1027-4065-2024-69-6-85-90
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