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患有癌症家族综合征变异型的一个家族中多名成员患穆尔-托雷综合征。

Muir-Torre syndrome in several members of a family with a variant of the Cancer Family Syndrome.

作者信息

Lynch H T, Fusaro R M, Roberts L, Voorhees G J, Lynch J F

出版信息

Br J Dermatol. 1985 Sep;113(3):295-301. doi: 10.1111/j.1365-2133.1985.tb02081.x.

DOI:10.1111/j.1365-2133.1985.tb02081.x
PMID:4063166
Abstract

Distinguishing cutaneous signs which are associated with hereditary cancer-prone syndromes are known as cancer-associated genodermatoses. Muir-Torre syndrome (M-T) is characterized by the occurrence of sebaceous hyperplasia, adenoma and carcinoma, basal cell carcinoma with sebaceous differentiation, and/or keratoacanthoma in association with visceral cancer (often multiple), and improved survival. Family studies of M-T have been either wholly lacking or too incomplete to elucidate hereditary aetiology. We describe the cutaneous phenotype of M-T in an extended kindred with a possible variant of the Cancer Family Syndrome. We emphasize the need for more thorough documentation of family histories and cancer association in this cancer-associated genodermatosis in order to clarify hereditary syndrome identification, and to improve cancer control through employment of cutaneous signs as a beacon for highly targeted forms of visceral cancer.

摘要

与遗传性易患癌综合征相关的可识别皮肤体征被称为癌症相关遗传性皮肤病。穆尔-托雷综合征(M-T)的特征是出现皮脂腺增生、腺瘤和癌、具有皮脂腺分化的基底细胞癌,和/或伴有内脏癌(通常为多发)的角化棘皮瘤,以及生存率提高。关于M-T的家族研究要么完全缺失,要么过于不完整,无法阐明遗传病因。我们描述了一个可能为癌症家族综合征变体的大家族中M-T的皮肤表型。我们强调,对于这种癌症相关遗传性皮肤病,需要更全面地记录家族病史和癌症关联,以便明确遗传性综合征的识别,并通过将皮肤体征作为高度靶向性内脏癌的信号,来改善癌症防控。

相似文献

1
Muir-Torre syndrome in several members of a family with a variant of the Cancer Family Syndrome.患有癌症家族综合征变异型的一个家族中多名成员患穆尔-托雷综合征。
Br J Dermatol. 1985 Sep;113(3):295-301. doi: 10.1111/j.1365-2133.1985.tb02081.x.
2
[Torre-Muir syndrome. Sebaceous gland neoplasms, keratoacanthomas, multiple internal cancers and heredity].
Hautarzt. 1981 Oct;32(10):519-24.
3
Different phenotypes in Muir-Torre syndrome: clinical and biomolecular characterization in two Italian families.穆尔-托雷综合征的不同表型:两个意大利家族的临床和生物分子特征
Br J Dermatol. 2005 Jun;152(6):1335-8. doi: 10.1111/j.1365-2133.2005.06506.x.
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[Muir-Torre syndrome and familial colorectal cancer: 2 families with molecular genetic analysis].[穆尔-托雷综合征与家族性结直肠癌:2个进行分子遗传学分析的家系]
Ann Dermatol Venereol. 1999 Aug-Sep;126(8-9):582-6.
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Muir-Torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature.穆尔-托雷综合征:一例并发空肠和输尿管癌患者的病例报告及文献综述
J Am Acad Dermatol. 1999 Nov;41(5 Pt 1):681-6. doi: 10.1016/s0190-9622(99)70001-0.
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[Torre-Muir syndrome. Sebaceous gland tumors indicate colon carcinoma and other internal malignant tumors].
Dtsch Med Wochenschr. 1987 Aug 21;112(34):1296-301. doi: 10.1055/s-2008-1068239.
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The Muir-Torre syndrome: a disease of sebaceous and colonic neoplasms.穆尔-托雷综合征:一种皮脂腺及结肠肿瘤疾病。
Dermatologica. 1989;178(1):23-8. doi: 10.1159/000248381.
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[Clinical follow-up and presence of visceral tumors in 12 patients with sebaceous gland tumors].[12例皮脂腺肿瘤患者的临床随访及内脏肿瘤情况]
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Muir-Torre syndrome.穆尔-托雷综合征
J Dermatol. 1992 Feb;19(2):105-8. doi: 10.1111/j.1346-8138.1992.tb03189.x.
10
Muir-Torre syndrome: clinical features and molecular genetic analysis.穆尔-托雷综合征:临床特征与分子遗传学分析
Br J Dermatol. 1997 Jun;136(6):913-7.

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J Genet Couns. 2013 Jun;22(3):393-405. doi: 10.1007/s10897-012-9552-4. Epub 2012 Dec 6.
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Cancer spectrum in DNA mismatch repair gene mutation carriers: results from a hospital based Lynch syndrome registry.DNA 错配修复基因突变携带者的癌症谱:来自基于医院的林奇综合征登记处的结果。
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Lynch syndrome: clinical, pathological, and genetic insights.
林奇综合征:临床、病理和遗传学见解。
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Clin Colon Rectal Surg. 2005 Aug;18(3):150-62. doi: 10.1055/s-2005-916276.
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J Med Genet. 2005 Nov;42(11):811-9. doi: 10.1136/jmg.2004.025577.
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Abnormal vascular network complexity: a new phenotypic marker in hereditary non-polyposis colorectal cancer syndrome.异常血管网络复杂性:遗传性非息肉病性结直肠癌综合征中的一种新表型标志物。
Gut. 2003 Dec;52(12):1764-7. doi: 10.1136/gut.52.12.1764.
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Genetic susceptibility to non-polyposis colorectal cancer.非息肉病性结直肠癌的遗传易感性。
J Med Genet. 1999 Nov;36(11):801-18.
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Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome.遗传性非息肉病性结直肠癌综合征中MSH2和MLH1 mRNA的突变筛查
J Med Genet. 1996 Sep;33(9):726-30. doi: 10.1136/jmg.33.9.726.
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The genetic basis of Muir-Torre syndrome includes the hMLH1 locus.穆尔-托雷综合征的遗传基础包括hMLH1基因座。
Am J Hum Genet. 1996 Sep;59(3):736-9.
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Muir-Torre syndrome: a variant of the cancer family syndrome.穆尔-托雷综合征:一种癌症家族综合征的变体。
J Med Genet. 1994 Aug;31(8):627-31. doi: 10.1136/jmg.31.8.627.