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Published in: Familial Cancer 1/2019

01-01-2019 | Original Article

Prevalence of thyroid diseases in familial adenomatous polyposis: a systematic review and meta-analysis

Authors: Jirat Chenbhanich, Amporn Atsawarungruangkit, Sira Korpaisarn, Tanit Phupitakphol, Soravis Osataphan, Prasit Phowthongkum

Published in: Familial Cancer | Issue 1/2019

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Abstract

Thyroid cancer (TC) is a known extra-intestinal manifestation and contributes to the mortality and morbidity in patients with familial adenomatous polyposis (FAP). Its exact prevalence is not well established and recent studies have shown an increasing number of TC in this patient population. The prevalence of benign thyroid masses and endocrinologic thyroid disorders are also poorly described. We conducted a systematic review and meta-analysis by using a random-effects model to characterize TC and estimated the prevalence of thyroid diseases in FAP patients. Twelve studies (n = 9821) were included. Pooled prevalence of TC, benign thyroid masses, and endocrinologic thyroid disorders in FAP were 2.6% [95% confidence interval (CI) 1.3–4.8], 48.8% [95% CI 33.8–64.0], and 6.9% [95% CI 4.5–10.3] respectively. Subgroup analyses revealed higher prevalence of TC in studies with fewer participants, studies that used screening ultrasound to diagnose TC, and studies that were published after 2002. TC diagnosis preceded the diagnosis of FAP in 34% of the patients. The means age at diagnosis of FAP and TC were 29 and 31 years, respectively. 95% of the patients were female and the most common pathology was of papillary subtype (83.3%). Most mutations (79.2%) were located at the 5′ end of APC gene. In summary, benign thyroid disorders are common in FAP, yet, TC is an uncommon phenomenon. Certain patient subset, such as young female with APC mutation at the 5′ end, might benefit from routine surveillance ultrasound.
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Literature
2.
go back to reference Crail HW (1949) Multiple primary malignancies arising in the rectum, brain, and thyroid; report of a case. U S Nav Med Bull 49(1):123–128PubMed Crail HW (1949) Multiple primary malignancies arising in the rectum, brain, and thyroid; report of a case. U S Nav Med Bull 49(1):123–128PubMed
3.
go back to reference Perrier ND, van Heerden JA, Goellner JR et al. (1998) Thyroid cancer in patients with familial adenomatous polyposis. World journal of surgery 22(7):738–742 (discussion 43)CrossRefPubMed Perrier ND, van Heerden JA, Goellner JR et al. (1998) Thyroid cancer in patients with familial adenomatous polyposis. World journal of surgery 22(7):738–742 (discussion 43)CrossRefPubMed
4.
go back to reference Bulow C, Bulow S (1997) Is screening for thyroid carcinoma indicated in familial adenomatous polyposis? The leeds castle polyposis group. Int J Colorectal Dis 12(4):240–242CrossRefPubMed Bulow C, Bulow S (1997) Is screening for thyroid carcinoma indicated in familial adenomatous polyposis? The leeds castle polyposis group. Int J Colorectal Dis 12(4):240–242CrossRefPubMed
5.
go back to reference Howlader N, Noone AM, Krapcho M et al (2016) SEER Cancer Statistics Review, 1975–2013. National Cancer Institute, Bethesda Howlader N, Noone AM, Krapcho M et al (2016) SEER Cancer Statistics Review, 1975–2013. National Cancer Institute, Bethesda
7.
go back to reference Harach HR, Williams GT, Williams ED (1994) Familial adenomatous polyposis associated thyroid carcinoma: a distinct type of follicular cell neoplasm. Histopathology 25(6):549–561CrossRefPubMed Harach HR, Williams GT, Williams ED (1994) Familial adenomatous polyposis associated thyroid carcinoma: a distinct type of follicular cell neoplasm. Histopathology 25(6):549–561CrossRefPubMed
8.
go back to reference Tomoda C, Miyauchi A, Uruno T et al (2004) Cribriform-morular variant of papillary thyroid carcinoma: clue to early detection of familial adenomatous polyposis-associated colon cancer. World J Surg 28(9):886–889CrossRefPubMed Tomoda C, Miyauchi A, Uruno T et al (2004) Cribriform-morular variant of papillary thyroid carcinoma: clue to early detection of familial adenomatous polyposis-associated colon cancer. World J Surg 28(9):886–889CrossRefPubMed
10.
go back to reference Herrera L, Carrel A, Rao U, Castillo N, Petrelli N (1989) Familial adenomatous polyposis in association with thyroiditis. Report of two cases. Dis Colon Rectum 32(10):893–896CrossRefPubMed Herrera L, Carrel A, Rao U, Castillo N, Petrelli N (1989) Familial adenomatous polyposis in association with thyroiditis. Report of two cases. Dis Colon Rectum 32(10):893–896CrossRefPubMed
12.
go back to reference Miyoshi Y, Nagase H, Ando H et al. (1992) Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. Hum Mol Genet 1(4):229–233CrossRefPubMed Miyoshi Y, Nagase H, Ando H et al. (1992) Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene. Hum Mol Genet 1(4):229–233CrossRefPubMed
15.
go back to reference Borenstein M, Hedges LV, Higgins JPT, Rothstein HR (2009) Introduction to meta-analysis. Wiley, ChichesterCrossRef Borenstein M, Hedges LV, Higgins JPT, Rothstein HR (2009) Introduction to meta-analysis. Wiley, ChichesterCrossRef
17.
go back to reference Begg CB, Mazumdar M (1994) Operating characteristics of a rank correlation test for publication bias. Biometrics 50(4):1088–1101CrossRefPubMed Begg CB, Mazumdar M (1994) Operating characteristics of a rank correlation test for publication bias. Biometrics 50(4):1088–1101CrossRefPubMed
18.
go back to reference Plail RO, Bussey HJ, Glazer G, Thomson JP (1987) Adenomatous polyposis: an association with carcinoma of the thyroid. Br J Surg 74(5):377–380CrossRefPubMed Plail RO, Bussey HJ, Glazer G, Thomson JP (1987) Adenomatous polyposis: an association with carcinoma of the thyroid. Br J Surg 74(5):377–380CrossRefPubMed
19.
go back to reference van der Linde K, Vasen HF, van Vliet AC (1998) Occurrence of thyroid carcinoma in Dutch patients with familial adenomatous polyposis: an epidemiological study and report of new cases. Eur J Gastroenterol Hepatol 10(9):777–781CrossRefPubMed van der Linde K, Vasen HF, van Vliet AC (1998) Occurrence of thyroid carcinoma in Dutch patients with familial adenomatous polyposis: an epidemiological study and report of new cases. Eur J Gastroenterol Hepatol 10(9):777–781CrossRefPubMed
20.
go back to reference Ho JW, Chu KM, Tse CW, Yuen ST (2002) Phenotype and management of patients with familial adenomatous polyposis in Hong Kong: perspective of the Hereditary Gastrointestinal Cancer Registry. Hong Kong medical journal = Xianggang yi xue za zhi/Hong Kong. Acad Med 8(5):342–347 Ho JW, Chu KM, Tse CW, Yuen ST (2002) Phenotype and management of patients with familial adenomatous polyposis in Hong Kong: perspective of the Hereditary Gastrointestinal Cancer Registry. Hong Kong medical journal = Xianggang yi xue za zhi/Hong Kong. Acad Med 8(5):342–347
21.
go back to reference Truta B, Allen BA, Conrad PG et al. (2003) Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma. Familial Cancer 2(2):95–99CrossRefPubMed Truta B, Allen BA, Conrad PG et al. (2003) Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma. Familial Cancer 2(2):95–99CrossRefPubMed
22.
go back to reference Martayan A, Sanchez-Mete L, Baldelli R et al (2010) Gene variants associated to malignant thyroid disease in familial adenomatous polyposis: a novel APC germline mutation. J Endocrinol Investig 33(9):603–606CrossRef Martayan A, Sanchez-Mete L, Baldelli R et al (2010) Gene variants associated to malignant thyroid disease in familial adenomatous polyposis: a novel APC germline mutation. J Endocrinol Investig 33(9):603–606CrossRef
27.
go back to reference Cetta F, Ugolini G, Barellini L, Civitelli S, Carmellini M (2011) FAP associated cribriform morular variant of PTC: striking female prevalence and indolent course. Endocr J 58(9):817–818CrossRefPubMed Cetta F, Ugolini G, Barellini L, Civitelli S, Carmellini M (2011) FAP associated cribriform morular variant of PTC: striking female prevalence and indolent course. Endocr J 58(9):817–818CrossRefPubMed
32.
go back to reference Gerfo PL, Chabot J, Gazetas P (1990) The intraoperative incidence of detectable bilateral and multicentric disease in papillary cancer of the thyroid. Surgery 108(6):958–962 (discussion 62-3)PubMed Gerfo PL, Chabot J, Gazetas P (1990) The intraoperative incidence of detectable bilateral and multicentric disease in papillary cancer of the thyroid. Surgery 108(6):958–962 (discussion 62-3)PubMed
41.
go back to reference Iwama T, Mishima Y, Utsunomiya J (1993) The impact of familial adenomatous polyposis on the tumorigenesis and mortality at the several organs. Its rational treatment. Ann Surg 217(2):101–108CrossRefPubMedPubMedCentral Iwama T, Mishima Y, Utsunomiya J (1993) The impact of familial adenomatous polyposis on the tumorigenesis and mortality at the several organs. Its rational treatment. Ann Surg 217(2):101–108CrossRefPubMedPubMedCentral
Metadata
Title
Prevalence of thyroid diseases in familial adenomatous polyposis: a systematic review and meta-analysis
Authors
Jirat Chenbhanich
Amporn Atsawarungruangkit
Sira Korpaisarn
Tanit Phupitakphol
Soravis Osataphan
Prasit Phowthongkum
Publication date
01-01-2019
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 1/2019
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-018-0085-3

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