下顎歯肉癌を生じたCowden症候群の1例

Cowden's syndrome is a rare genodermatosis of autosomal dominant inheritance and variable phenotype, principally characterized clinically by multiple hamartomas in various organs, including the skin, thyroid, and gastrointestinal tract and by an increased risk for the development of malignancy....

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Published in日本口腔外科学会雑誌 Vol. 64; no. 4; pp. 213 - 218
Main Authors 平岡, 佑二郎, 重岡, 学, 南川, 勉, 榎本, 由依, 古森, 孝英, 明石, 昌也
Format Journal Article
LanguageJapanese
Published 社団法人 日本口腔外科学会 20.04.2018
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ISSN0021-5163
2186-1579
DOI10.5794/jjoms.64.213

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Abstract Cowden's syndrome is a rare genodermatosis of autosomal dominant inheritance and variable phenotype, principally characterized clinically by multiple hamartomas in various organs, including the skin, thyroid, and gastrointestinal tract and by an increased risk for the development of malignancy. We report a case of Cowden's syndrome associated with oral squamous cell carcinoma of the lower gingiva. A 65-year-old man was referred to our hospital because of swelling of the right lower gingiva, and a biopsy of the right lower gingiva revealed squamous cell carcinoma. Preoperative upper gastrointestinal endoscopy showed multiple polypoid lesions in both the esophagus and the stomach. In addition, there were papillomatous lesions in the oral mucosa. On the basis of these clinical findings, Cowden's syndrome was suspected. Whole body positronemission tomography and computed tomography showed mass shadows in the right mandible and the right submandibular lymph nodes. Surgery was performed, and the final histopathological diagnosis was squamous cell carcinoma. Taken together, we diagnosed Cowden's syndrome accompanied by oral cancer. The patient is currently under follow-up observation in our department.
AbstractList Cowden's syndrome is a rare genodermatosis of autosomal dominant inheritance and variable phenotype, principally characterized clinically by multiple hamartomas in various organs, including the skin, thyroid, and gastrointestinal tract and by an increased risk for the development of malignancy. We report a case of Cowden's syndrome associated with oral squamous cell carcinoma of the lower gingiva. A 65-year-old man was referred to our hospital because of swelling of the right lower gingiva, and a biopsy of the right lower gingiva revealed squamous cell carcinoma. Preoperative upper gastrointestinal endoscopy showed multiple polypoid lesions in both the esophagus and the stomach. In addition, there were papillomatous lesions in the oral mucosa. On the basis of these clinical findings, Cowden's syndrome was suspected. Whole body positronemission tomography and computed tomography showed mass shadows in the right mandible and the right submandibular lymph nodes. Surgery was performed, and the final histopathological diagnosis was squamous cell carcinoma. Taken together, we diagnosed Cowden's syndrome accompanied by oral cancer. The patient is currently under follow-up observation in our department.
Author 古森, 孝英
榎本, 由依
平岡, 佑二郎
重岡, 学
南川, 勉
明石, 昌也
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References 11) Eng C : Cowden syndrome. J Genet Couns 6: 181-191, 1997.
10) Vinitsky A, Zaleski CA, et al : Intestinal ganglioneuromatosis: Unusual presentation of Cowden syndrome resulting in delayed diagnosis. Am J Med Genet 161: 1085-1090, 2013.
2) Leao J, Batista V, et al : Cowden's syndrome affecting the mouth, gastrointestinal, and central nervous system: A case of report and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 99: 569-572, 2005.
4) Lloyd KM and Dennis M : Cowden’s disease : a possible new symptom complex with multiple system involvement. Ann Intern Med 58: 136-142, 1963.
8) 遠藤日登美,今川 敦,他:人間ドックの上部消化管内視鏡検査を契機にCowden病の診断に至った1例.人間ドック 29: 47-50, 2014.
9) Flores I, Romo S, et al : Oral presentation of 10 patients with Cowden syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol 117: 301-309, 2014.
3) Daly M, Pilarski R, et al : Genetic/familial high risk assessment: Breast and ovaryan, Version 1.2014. JNCCN 12: 1326-1337, 2014.
5) 澤村紀子,原田尚彦,他:人間ドック時の特徴的な食道病変を契機に診断されPTEN 遺伝子 (exon5) 変異を認めたCowden病の1例.日消誌 109: 593-599, 2012.
1) 岩本 修,津山治己,他:頰粘膜に疣状癌を合併したCowden病の1例.日口外誌 47: 20-23, 2001.
7) Nelen M, Kremer H, et al : PTEN mutateons in patients with Cowden disease:Absence of clear genotype-phenotype correlations. Eur J Hum Genet 7: 267-273, 1999.
6) Liaw D, Marsh DJ, et al : Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 16: 64-67, 1997.
12) Eng C : Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 37: 828-830, 2000.
References_xml – reference: 3) Daly M, Pilarski R, et al : Genetic/familial high risk assessment: Breast and ovaryan, Version 1.2014. JNCCN 12: 1326-1337, 2014.
– reference: 10) Vinitsky A, Zaleski CA, et al : Intestinal ganglioneuromatosis: Unusual presentation of Cowden syndrome resulting in delayed diagnosis. Am J Med Genet 161: 1085-1090, 2013.
– reference: 11) Eng C : Cowden syndrome. J Genet Couns 6: 181-191, 1997.
– reference: 12) Eng C : Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 37: 828-830, 2000.
– reference: 9) Flores I, Romo S, et al : Oral presentation of 10 patients with Cowden syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol 117: 301-309, 2014.
– reference: 1) 岩本 修,津山治己,他:頰粘膜に疣状癌を合併したCowden病の1例.日口外誌 47: 20-23, 2001.
– reference: 4) Lloyd KM and Dennis M : Cowden’s disease : a possible new symptom complex with multiple system involvement. Ann Intern Med 58: 136-142, 1963.
– reference: 5) 澤村紀子,原田尚彦,他:人間ドック時の特徴的な食道病変を契機に診断されPTEN 遺伝子 (exon5) 変異を認めたCowden病の1例.日消誌 109: 593-599, 2012.
– reference: 2) Leao J, Batista V, et al : Cowden's syndrome affecting the mouth, gastrointestinal, and central nervous system: A case of report and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 99: 569-572, 2005.
– reference: 6) Liaw D, Marsh DJ, et al : Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 16: 64-67, 1997.
– reference: 7) Nelen M, Kremer H, et al : PTEN mutateons in patients with Cowden disease:Absence of clear genotype-phenotype correlations. Eur J Hum Genet 7: 267-273, 1999.
– reference: 8) 遠藤日登美,今川 敦,他:人間ドックの上部消化管内視鏡検査を契機にCowden病の診断に至った1例.人間ドック 29: 47-50, 2014.
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SubjectTerms Cowden症候群
口腔癌
多発性過誤腫
Title 下顎歯肉癌を生じたCowden症候群の1例
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