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Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma

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Abstract

The incidence of thyroid carcinoma in familial adenomatous polyposis (FAP) is thought to be 1%–2%, with the majority of cases being female. We have investigated the phenotype and genotype of 16 patients with FAP associated thyroid carcinoma. Among 1194 FAP patients studied in two high risk registries in North America (Familial Gastrointestinal Cancer Registry, Toronto and University California, San Francisco), 16 (1.3%) unrelated patients with FAP associated thyroid cancers were identified. Adenomatous polyposis coli (APC) gene testing was performed in 14 of the 16 cases. The average age of diagnosis for FAP and thyroid carcinoma was 29 years (range 17–52 years) and 33 years (range 17–55 years), respectively. All FAP patients except 1 had more than 100 colonic adenomas. Extracolonic manifestations, beside thyroid cancer, were presented in 81% (n = 13) of the patients, including gastric and duodenal polyps, desmoid tumor, osteoma, epidermoid cyst, sebaceous cyst and lipoma. Colorectal cancer was diagnosed in 38% (n = 6) of the patients. The pathology of the FAP associated thyroid cancer was predominantly papillary carcinoma. Germline mutations were identified in 12 of 14 patients tested. Mutations proximal to the mutation cluster region (1286–1513) were detected in 9 cases. Thyroid cancer in our FAP population was rare, predominantly in females and showed papillary carcinoma histology. Additionally, thyroid cancer in our patients occurred in the setting of classic FAP phenotype. Germline mutations were located predominantly outside the APC mutation cluster region.

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References

  1. Bertario L, Russo A, Sala P et al. Multiple approach to the exploration of genotype-phenotype correlation in familial adenomatous polyposis. J Clin Oncol 2003; 21(9): 1698–707.

    Article  PubMed  CAS  Google Scholar 

  2. Crail HW. Multiple primary malignancies arising in the rectum, brain and thyroid. US Navy Med Bull 1949; 49: 123–8.

    CAS  Google Scholar 

  3. Camiel RM, Mule EJ, Alexander LL et al. Association of thyroid carcinoma with Gardner' syndrome in siblings. N Engl J Med 1968; 278(19): 1056–8.

    Article  PubMed  CAS  Google Scholar 

  4. Plail RO, Bussey HJ, Glazer G et al. Adenomatous polyposis: an association with carcinoma of the thyroid. Br J Surg 1987; 74(5): 377–80.

    PubMed  CAS  Google Scholar 

  5. Bülow C, Bülow S, Leeds Castle Polyposis Group. Is screening for thyroid carcinoma indicated in familial adenomatous polyposis? Int J Colorectal Dis 1997; 12(4): 240–2.

    Article  PubMed  Google Scholar 

  6. Iwama T, Mishima Y, Utsunomiya J. The impact of familial adenomatous polyposis on the tumorigenesis and mortality at the several organs. Its rational treatment. Ann Surg 1993; 217(2): 101–8.

    PubMed  CAS  Google Scholar 

  7. Bell B, Mazzaferri EL. Familial adenomatous polyposis (Gardner' syndrome) and thyroid carcinoma. A case report and review of the literature. Dig Dis Sci 1993; 38(1): 185–90.

    Article  PubMed  CAS  Google Scholar 

  8. Cameselle-Teijeiro J, Chan JK. Cribriform-morular variant of papillary carcinoma: a distinctive variant representing the sporadic counterpart of familial adenomatous polyposis-associated thyroid carcinoma? Mod Pathol 1999; 12(4): 400–11.

    PubMed  CAS  Google Scholar 

  9. Cetta F, Montalto G, Gori M et al. Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: results from a European cooperative study. J Clin Endocrinol Metab 2000; 85(1): 286–92.

    Article  PubMed  CAS  Google Scholar 

  10. Hizawa K, Iida M, Aoyagi K et al. Thyroid neoplasia and familial adenomatous polyposis/Gardner' syndrome. J Gastroenterol 1997; 32(2): 196–9.

    Article  PubMed  CAS  Google Scholar 

  11. Kelly MD, Hugh TB, Field A S et al. Carcinoma of the thyroid gland and Gardner' syndrome. Aust N Z J Surg 1993; 63(6): 505–9.

    PubMed  CAS  Google Scholar 

  12. Fenton PA, Clarke SE, Owen W et al. Cribriform variant papillary thyroid cancer: a characteristic of familial adenomatous polyposis. Thyroid 2001; 11(2): 193–7.

    Article  PubMed  CAS  Google Scholar 

  13. Perrier ND, van Heerden JA, Goellner JR et al. Thyroid cancer in patients with familial adenomatous polyposis. World J Surg 1998; 22(7): 738–42; discussion 743.

    Article  PubMed  CAS  Google Scholar 

  14. Harach HR., Williams GT, Williams ED. Familial adenomatous polyposis associated thyroid carcinoma: a distinct type of follicular cell neoplasm. Histopathology 1994; 25(6): 549–61.

    PubMed  CAS  Google Scholar 

  15. Colletta G, Sciacchitano S, Palmirotta R et al. Analysis of adenomatous polyposis coli gene in thyroid tumours. Br J Cancer 1994; 70(6): 1085–8.

    PubMed  CAS  Google Scholar 

  16. Cetta F, Olschwang S, Petracci M et al. Genetic alterations in thyroid carcinoma associated with familial adenomatous polyposis: clinical implications and suggestions for early detection. World J Surg 1998; 22(12): 1231–6.

    Article  PubMed  CAS  Google Scholar 

  17. van der Luijt RB, Meera Khan P, Vasen H et al. Rapid detection and traslation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics 1994; 20: 1–4.

    Article  PubMed  CAS  Google Scholar 

  18. Giardiello FM, Offerhaus GJ, Lee DH et al. Increased risk of thyroid and pancreatic carcinoma in familial adenomatous polyposis. Gut 1993; 34(10): 1394–6.

    PubMed  CAS  Google Scholar 

  19. van der Linde K, Vasen HF, van Vliet AC. Occurrence of thyroid carcinoma in Dutch patients with familial adenomatous polyposis. An epidemiological study and report of new cases. Eur J Gastroenterol Hepatol 1998; 10(9): 777–81.

    PubMed  CAS  Google Scholar 

  20. Bülow S, Holm NV, Mellemgaard A. Papillary thyroid carcinoma in Danish patients with familial adenomatous polyposis. Int J Colorectal Dis 1988; 3(1): 29–31.

    Article  PubMed  Google Scholar 

  21. Harach RH. Familial nonmedullary thyroid neoplasia. Endocr Pathol 2001; 12(2): 97–112.

    Article  Google Scholar 

  22. Soravia C, Sugg SL, Berk T et al. Familial adenomatous polyposis-associated thyroid cancer. A clinical, pathological, and molecular genetics study. Am J Pathol 1999; 154: 127–35.

    PubMed  CAS  Google Scholar 

  23. Chong J, Koshiishi N, Kurihara K et al. Aspiration and imprint cytopathology of thyroid carcinoma associated with familial adenomatous polyposis. Diagn Cytopathol 2000; 23(2): 101–5.

    Article  PubMed  CAS  Google Scholar 

  24. Hizawa K, Iida M, Yao T et al. Association between thyroid cancer of cribriform variant and familial adenomatous polyposis. J Clin Pathol 1996; 49(7): 611–3.

    PubMed  CAS  Google Scholar 

  25. Kashiwagi H, Konishi F, Kanazawa K et al. Sisters with familial adenomatous polyposis affected with thyroid carcinoma, desmoid tumour and duodenal polyposis. Br J Surg 1996; 83(2): 228.

    Article  PubMed  CAS  Google Scholar 

  26. Caspari R, Olschwang S, Friedl W et al. Familial adenomatous polyposis: desmoid tumors and lack of ophthalmic lesions (CHRPE) associated with APC mutation beyond codon 1444. Hum Mol Genet 1995; 4: 337–40.

    PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Medicine, University California San Francisco, USA

    Brindusa Truta, Brian A. Allen, Jonathan P. Terdiman & Marvin H. Sleisenger

  2. Division of Gastroenterology, Comprehensive Cancer Center, San Francisco, California, USA

    Brindusa Truta, Peggy G. Conrad, Young S. Kim, Jonathan P. Terdiman & Marvin H. Sleisenger

  3. Division of Gastroenterology, Comprehensive Cancer Center, San Francisco, California, USA

    Brian A. Allen

  4. Familial Gastroenterology Cancer Registry, Departments of Surgery and Pathology, Mount Sinai Hospital, Toronto, Canada

    Terri Berk, Steven Gallinger & Bharati Bapat

Authors
  1. Brindusa Truta
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  2. Brian A. Allen
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  3. Peggy G. Conrad
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  4. Young S. Kim
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  5. Terri Berk
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  6. Steven Gallinger
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  7. Bharati Bapat
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  8. Jonathan P. Terdiman
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  9. Marvin H. Sleisenger
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Truta, B., Allen, B.A., Conrad, P.G. et al. Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma. Familial Cancer 2, 95–99 (2003). https://doi.org/10.1023/A:1025762706854

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