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伴有骨肉瘤的多发错构瘤综合征

Multiple hamartoma syndrome with osteosarcoma.

作者信息

Yen B C, Kahn H, Schiller A L, Klein M J, Phelps R G, Lebwohl M G

机构信息

Department of Dermatology, Mount Sinai School of Medicine, New York, NY 10029-6574.

出版信息

Arch Pathol Lab Med. 1993 Dec;117(12):1252-4.

PMID:8250698
Abstract

Multiple hamartoma syndrome, also known as Cowden's disease, is a rare genodermatosis with characteristic mucocutaneous lesions associated with multiple internal abnormalities. We describe a patient having classic dermatologic manifestations of Cowden's disease and multiple neoplasia including follicular adenocarcinoma of the thyroid gland with lung metastasis, intraductal breast carcinoma within a fibroadenoma, and an osteosarcoma. To our knowledge, this is the first reported case of an osteosarcoma in Cowden's disease.

摘要

多发性错构瘤综合征,也称为考登病,是一种罕见的遗传性皮肤病,具有特征性的黏膜皮肤病变,并伴有多种内脏异常。我们描述了一名患有考登病典型皮肤表现和多种肿瘤的患者,包括伴有肺转移的甲状腺滤泡腺癌、纤维腺瘤内的导管内乳腺癌以及骨肉瘤。据我们所知,这是考登病中首次报道的骨肉瘤病例。

相似文献

1
Multiple hamartoma syndrome with osteosarcoma.伴有骨肉瘤的多发错构瘤综合征
Arch Pathol Lab Med. 1993 Dec;117(12):1252-4.
2
[Cowden's disease. A syndrome with multiple hamartomas and neoplasias].[考登病。一种伴有多种错构瘤和肿瘤形成的综合征]
Tidsskr Nor Laegeforen. 1991 Aug 20;111(19):2432-4.
3
Cowden's syndrome: a case report.
Quintessence Int. 2002 Jan;33(1):75-80.
4
[Multiple hamartoma syndrome].[多发性错构瘤综合征]
Med Cutan Ibero Lat Am. 1988;16(4):322-7.
5
Cowden's syndrome affecting the mouth, gastrointestinal, and central nervous system: a case report and review of the literature.考登综合征累及口腔、胃肠道和中枢神经系统:一例报告并文献复习
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2005 May;99(5):569-72. doi: 10.1016/j.tripleo.2004.08.032.
6
Lhermitte-Duclos disease and giant meningioma as manifestations of Cowden's disease.Lhermitte-Duclos病和巨大脑膜瘤作为考登病的表现。
Clin Neuropathol. 1995 Nov-Dec;14(6):327-30.
7
Multiple hamartoma syndrome (Cowden's syndrome): case report and literature review.多发性错构瘤综合征(考登综合征):病例报告及文献综述
Gen Dent. 2006 Nov-Dec;54(6):417-9.
8
[Gastric hamartoma and thyroid gland carcinoma with follicular and neuroendocrine differentiation in Cowden syndrome].
Z Gastroenterol. 1996 Jan;34(1):30-5.
9
Oral manifestations of Cowden's disease. Presentation of a clinical case.考登病的口腔表现。1例临床病例报告。
Med Oral Patol Oral Cir Bucal. 2006 Aug 1;11(5):E421-4.
10
Cowden's disease--its importance for otolaryngologists.
J Laryngol Otol. 1993 Nov;107(11):1063-5.

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Bone tissue and mineral metabolism in hereditary endocrine tumors: clinical manifestations and genetic bases.遗传性内分泌肿瘤中的骨组织和矿物质代谢:临床表现和遗传基础。
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Broken by the Cut: A Journey into the Role of Topoisomerase II in DNA Fragility.
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Novel Germline Mutation Associated with Cowden Syndrome and Osteosarcoma.与考登综合征和骨肉瘤相关的新型种系突变
Cancer Genomics Proteomics. 2018 Mar-Apr;15(2):115-120. doi: 10.21873/cgp.20069.
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DNA fragile site breakage as a measure of chemical exposure and predictor of individual susceptibility to form oncogenic rearrangements.DNA脆性位点断裂作为化学暴露的一种衡量指标以及个体形成致癌重排易感性的预测指标。
Carcinogenesis. 2017 Mar 1;38(3):293-301. doi: 10.1093/carcin/bgw210.
6
The role of fragile sites in sporadic papillary thyroid carcinoma.脆性位点在散发性乳头状甲状腺癌中的作用。
J Thyroid Res. 2012;2012:927683. doi: 10.1155/2012/927683. Epub 2012 Jun 11.
7
Secondary thyroid papillary carcinoma in osteosarcoma patients: report of two cases.骨肉瘤患者中的继发性甲状腺乳头状癌:两例报告
J Korean Med Sci. 2008 Feb;23(1):149-52. doi: 10.3346/jkms.2008.23.1.149.
8
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.一个与PTEN单一胚系突变相关的家族中Cowden综合征和Bannayan-Zonana综合征的表型发现。
J Med Genet. 1999 May;36(5):360-4.