Occult radiopaque jaw lesions in familial adenomatous polyposis coli and hereditary nonpolyposis colorectal cancer

Levin, L. Stefan; Giardiello, Francis M.; Krush, Anne J.; Welsh, Steven B.; Booker, Susan V.; Hasler, J.F.; McKusick, Victor A.; Yardley, John H.; Hamilton, Stanley R.; Luk, Gordon D.

doi:10.1016/0016-5085(87)90910-3

Cited by 36 publications

(26 citation statements)

References 25 publications

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“…Samples were from Brazil, 31 Denmark, 32,33 England, 22,23 Finland, 24,34 Italy, 16 Japan, 19,25,[35][36][37] Poland, 30 Spain, 38 Sweden, 39 and the USA. 18,21,40,41 A summary of the descriptive characteristics of the included studies is given in Table 1.…”

Section: Resultsmentioning

confidence: 99%

“…None of the studies fulfilled all the methodological criteria based on the sum of the 11 applicable items of the AHRQ. Most of the studies 16,18,19,23,25,35,38,40,41 were evaluated as moderate risk of bias, six studies 31,21,24,36,32,34 had high risk of bias, and five 22,33,37,39,30 had low risk of bias. The main methodological limitations representing potential risk of bias were related to non-blinding evaluators and the incomplete explanation of how missing data were handled in the sample analysis.…”

Section: Resultsmentioning

confidence: 99%

“…Offerhaus et al 18 followed 111 individuals from eight family groups with FAP. In their sample, 33 patients had FAP and other family members were considered as individuals at risk.…”

Section: Oral Manifestations In Patients With Fapmentioning

confidence: 99%

See 2 more Smart Citations

Oral manifestations in patients with familial adenomatous polyposis: A systematic review and meta‐analysis

Almeida

Pachêco‐Pereira

Porporatti

et al. 2016

J of Gastro and Hepatol

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Oral manifestations in patients with familial adenomatous polyposis: A systematic review and meta‐analysis

Almeida

Pachêco‐Pereira

Porporatti

et al. 2016

J of Gastro and Hepatol

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“…In addition to colorectal manifestations, patients with FAP can develop a variety of extra colonic alterations such as other types of cancers, gastric and duodenal polyps, desmoids tumors, hypertrophy of the retinal pigment epithelium, epidermal cysts, and oral manifestations. Oral manifestations can emerge before the development of the colorectal polyps and are reported to be present from 58% to 100% of affected individuals [6][7][8][9][10][11][12][13]. The oral manifestations of FAP include osseous jaw lesions, odontomas, supernumerary teeth, unerupted teeth, and oral mucosa alteration.…”

Section: Discussionmentioning

confidence: 99%

Osteomas in a Patient with Familial Adenomatous Polyposis

Ft¹,

Leite²,

Ac³

et al. 2017

J Mol Genet Med

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This case report aimed to characterize dento-osseous anomalies in Familial Adenomatous Polyposis (FAP) in a Brazilian patient. Furthermore, FAP was investigate for possible causative. This case report showed the importance of dento-osseous knowledge related to FAP. Early dento-osseous anomalies diagnosis revealed the need to followup FAP family members from childhood and was essential for subsequent clinical or genetic FAP diagnosis. The authors think that this work is important as it provides highlights about the role of the dentist in the early diagnosis of FAP, a disease that predisposes colorectal cancer.

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“…Interestingly, patients with family history of colonic polyposis and colorectal cancer have in few cases been associated to endocrine neoplasias, including parathyroid adenomas (29), as well as lesions of the jaws (30). Jaw tumors are also a feature of the HPT-JT syndrome caused by germline HRPT2 mutations, in which the afflicted members may present with PHPT that is frequently malignant, ossifying jaw tumors as well as various lesions of the kidney and uterus (31).…”

Section: Discussionmentioning

confidence: 99%

Loss of expression for the Wnt pathway components adenomatous polyposis coli and glycogen synthase kinase 3-β in parathyroid carcinomas

Juhlin

Haglund²,

Villablanca³

et al. 1992

Int J Oncol

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Abstract. The development of parathyroid carcinoma has been associated with inactivating mutations of the Hyperparathyroidism type 2 (HRPT2) gene encoding parafibromin, a member of the human RNA Polymerase II-Associated Factor Complex (hPAF) and functionally linked to the Wingless type (Wnt) pathway. In this study, we characterized the expression of Wnt pathway molecules in parathyroid benign and malignant tumors. Tumors were investigated by immunohistochemistry supplemented with Western blot analyses using monoclonal antibodies. The study comprised 13 tumors from 12 cases of unequivocal parathyroid carcinoma, 18 cases of parathyroid adenoma, as well as nontumorous parathyroid tissue. Adenomatous polyposis coli (APC) was uniformly expressed in non-tumorous parathyroid tissue and adenomas, but absent in carcinomas from 9 of 12 patients (75%). Expression of glycogen synthase kinase 3-ß (GSK3-ß) was lost in 4/12 carcinomas and in 1/18 adenomas. The loss of APC and GSK3-ß did not lead to augmentation of the Wnt target protein cyclin D1 or the Wnt oncoprotein ß-catenin. Active ß-catenin showed cytoplasmic and nuclear expression in all non-tumorous tissues and tumors. Loss of APC immunoreactivity was significantly associated with parathyroid carcinoma as compared to adenomas (p<0.001), giving a high specificity (100%) and sensitivity (75%) for the detection of parathyroid malignancy. The results suggest the involvement of Wnt-pathway members APC and GSK3-ß in parathyroid carcinoma development. In addition, APC immunohistochemistry could become a useful tool for improved recognition of parathyroid carcinoma together with immunohistochemistry for parafibromin and proliferation index. Furthermore, the involvement of APC related pathways in the disease development opens possibilities to explore therapeutic routes complementary to surgery.

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Occult radiopaque jaw lesions in familial adenomatous polyposis coli and hereditary nonpolyposis colorectal cancer

Cited by 36 publications

References 25 publications

Oral manifestations in patients with familial adenomatous polyposis: A systematic review and meta‐analysis

Oral manifestations in patients with familial adenomatous polyposis: A systematic review and meta‐analysis

Osteomas in a Patient with Familial Adenomatous Polyposis

Loss of expression for the Wnt pathway components adenomatous polyposis coli and glycogen synthase kinase 3-β in parathyroid carcinomas

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