Adenomatous polyposis: An association with carcinoma of the thyroid

Plail, Roger O.; Bussey, H. J. R.; Glazer, G; Thomson, J. P. S.

doi:10.1002/bjs.1800740517

Cited by 178 publications

(71 citation statements)

References 21 publications

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“…Several adenomas can develop in the small intestine as well as in the colon, and a malignant tumor can develop in the duodenum or near the ampulla [4]. Sometimes, the adenomas accompany a thyroid carcinoma [5]. Cases with an accompanying thyroid carcinoma occur in 1-2% of FAP patients, and are found mainly in young women aged 30 years or below at the time of diagnosis.…”

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Papillary Thyroid Carcinoma Associated with Familial Adenomatous Polyposis: Molecular Analysis of Pathogenesis in a Family and Review of the Literature

et al. 2004

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Abstract. We found a case of a papillary thyroid carcinoma that was accompanied by a familial adenomatous polyposis (FAP) in a 29-year-old female. She had hundreds of adenomas inside the entire colon and a congenital hypertrophy of the retinal pigmented epithelium (CHRPE). The patient underwent a total thyroidectomy and a central compartment neck node dissection. Gross examination of the thyroid identified two solid and cystic lesions. The pathological finding of thyroid cancer revealed a mixture of a peculiar nuclear clearing, cribriform, morula formation, trabecular and papillary pattern. The patient's brother had undergone a total colectomy due to FAP at the age of 25. Genetic analyses of the patient's family members revealed that she and her brother had the same germline mutation, in which five nucleotides (AAAGA) were deleted from codon 1309 of the adenomatous polyposis coli (APC) gene exon 15. Strong and frequent immunoreactivities of b-catenin and p53 were evident in the tumor tissue. At the time of writing, a preventive colectomy was still under consideration for the patient. Genetic counseling was given to the other family members, who were not attacked by this disease, in order to allay their fears of cancer. FAMILIAL adenomatous polyposis (FAP) is inherited by an autosomal dominant trait and has an incidence of one per 10,000 persons. It is characterized by several hundred or even thousand adenomatous polyps spreading over the colon and the rectum, which can cause a colon and rectal carcinoma if left untreated. FAP is caused by germline mutation of the adenomatous polyposis coli (APC) gene, which is located on the long arms of chromosome 5 (5q21-22), and is known as a tumor suppressor gene [1,2]. Other possible lesions besides the accompanying colon lesions are an osteoma that develops in the bones, an epidermoid cyst in the skin, a desmoid tumor in the abdominal wall, congenital hypertrophy of the retinal pigment epithelium (CHRPE) in the retina, etc. The polyps are found in the stomach in approximately half of FAP cases, and most of these polyps are the non-tumoral fundic gland polyps that characterize fundic gland hyperplasia and cystic dilatation [3]. Several adenomas can develop in the small intestine as well as in the colon, and a malignant tumor can develop in the duodenum or near the ampulla [4]. Sometimes, the adenomas accompany a thyroid carcinoma [5]. Cases with an accompanying thyroid carcinoma occur in 1-2% of FAP patients, and are found mainly in young women aged 30 years or below at the time of diagnosis. Moreover, 95% of these cases are histologically the papillary type [6,7], and some show a peculiar cribriform pattern [8]. In Cetta's study,

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Papillary Thyroid Carcinoma Associated with Familial Adenomatous Polyposis: Molecular Analysis of Pathogenesis in a Family and Review of the Literature

et al. 2004

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“…1,2) The relative risk for thyroid carcinoma in FAP women under 35 years of age is 160 times normal, and more importantly, 30% of thyroid carcinomas are diagnosed 4-12 years before the development of polyposis.…”

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Nuclear Localization of Immunoreactive β‐Catenin Is Specific to Familial Adenomatous Polyposis in Papillary Thyroid Carcinoma

Kurihara

Shimizu

Chong

et al. 2000

Japanese Journal of Cancer Research

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Thyroid carcinoma is the first symptom in some patients with familial adenomatous polyposis (FAP). We evaluated the cellular localization of β β β β-catenin in thyroid carcinomas associated (n = = = =4)or not associated (n = Thyroid carcinoma occurs much more frequently in young female patients with familial adenomatous polyposis (FAP) than in matched controls.=1, 2) The relative risk for thyroid carcinoma in FAP women under 35 years of age is 160 times normal, and more importantly, 30% of thyroid carcinomas are diagnosed 4-12 years before the development of polyposis.2) Germline mutation of the adenomatous polyposis coli gene (APC) is responsible for the FAP. APC protein controls the nuclear accumulation of β-catenin, a transcriptional activator regulated by the Wnt signaling pathway, by a combination of nuclear export and cytoplasmic degradation.3, 4) The latter function of APC is lost by the mutation and/or deletion of APC in both alleles in the colon carcinomas of FAP patients, and this results in the nuclear accumulation of β-catenin.5) Then, it interacts with Tcf-4, the Lef/TCf transcription factor, leading to activation of several developmentally related genes, such as c-myc, and subsequent cell proliferation. To test the possibility that the abnormality of the APC/β-catenin pathway is also involved in FAP-associated thyroid carcinoma, we immunohistochemically evaluated β-catenin in FAP-associated thyroid carcinoma as well as sporadic thyroid carcinomas. If β-catenin-accumulation is specific to FAP in thyroid carcinomas, it can be a hallmark to identify occult FAP in young patients with thyroid carcinoma.Four FAP patients with thyroid carcinoma were enrolled in this study. Three were sisters and the other was a daughter of one of them. The thyroid carcinoma was the first symptom of the proband at age 16, five years before the diagnosis of FAP with a rectal carcinoma. Thyroid carcinomas were detected at the age of 12 in the case of her sister, and at 13 in her daughter. The clinical course of the sisters has been previously reported, and germline APC mutation was found at codon 848 (AAA to TAA, stop). 6) In the case of the fourth patient, who had no relation to the three patients described above, multiple colon carcinomas and multiple thyroid carcinomas were diagnosed simultaneously (Fig. 1A). The clinical course of this 26-year-old woman has also been reported previously.7) Germline APC mutation was detected at codon 175 (ACT to AT, C deletion), resulting in truncation at codon 184. A somatic mutation was also demonstrated at codon 886 (CAG to TAG, stop) in one of the thyroid carcinomas.As for the sporadic thyroid carcinomas, two series were evaluated: the first series was papillary thyroid carcinomas which had been consecutively resected at the Department of Surgery, Jichi Medical School (n=140, age 17-83 years old), including 11 cases younger than 30 years of age. The second series consisted of thyroid carcinomas of patients aged less than 30, treated at Tokyo Metropolitan Komagome Hospital. Twenty-seve...

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“…An expression, at the maternal lineage, of familial polyposis coli (FAP) syndromes (Plail et al, 1987) does not seem likely, as the incidence of colorectal tumours was close to the expected, and FAP was more often associated with papillary carcinoma. None of the gastric tumours occurred in association with other tumours, and the incidence of pancreatic cancer, which is increased in patients with FAP (Giardiello et al, 1993), was even decreased in this cohort of parents compared with the general population.…”

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confidence: 99%

Parental cancer and risk of papillary and follicular thyroid carcinoma

Galanti

Ekbom²,

Grimelius³

et al. 1997

Br J Cancer

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Summary In a population-based case-control study in the Uppsala-Orebro Health Care Region of Sweden, the histories of cancer among parents of 517 histologically confirmed cases of papillary and follicular carcinoma and of a similar number of sex-and age-matched controls were compared. The parental history of cancer was compiled through information from death certificates and from the nationwide Cancer Register. The incidence of malignancies in a cohort of parents of cases of thyroid cancer was also compared with the incidence in the whole Swedish population. A maternal history of cancer was more common among women with follicular carcinoma than among their controls (OR 2.11, 95% Cl 0.96-4.67). Parents of probands with papillary carcinoma had an increased risk of thyroid cancer (OR 4.25,, and mothers of probands with follicular carcinoma had an increased risk of stomach cancer (OR 3.65, 95% Cl 0.99-9.35) compared with the general population. Cancer of the lung, breast, and pancreas were less common than in the general population. Familial cases of thyroid cancer were not limited to the papillary type. An inheritable pattern of carcinogenesis is possible for certain differentiated nonmedullary thyroid cancers, but shared environmental exposures may also explain the parent-child associations of cancer in this study.

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Adenomatous polyposis: An association with carcinoma of the thyroid

Cited by 178 publications

References 21 publications

Papillary Thyroid Carcinoma Associated with Familial Adenomatous Polyposis: Molecular Analysis of Pathogenesis in a Family and Review of the Literature

Papillary Thyroid Carcinoma Associated with Familial Adenomatous Polyposis: Molecular Analysis of Pathogenesis in a Family and Review of the Literature

Nuclear Localization of Immunoreactive β‐Catenin Is Specific to Familial Adenomatous Polyposis in Papillary Thyroid Carcinoma

Parental cancer and risk of papillary and follicular thyroid carcinoma

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