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家族性葡萄膜黑色素瘤。

Familial uveal melanoma.

作者信息

Canning C R, Hungerford J

机构信息

Moorfields Eye Hospital, London.

出版信息

Br J Ophthalmol. 1988 Apr;72(4):241-3. doi: 10.1136/bjo.72.4.241.

Abstract

The cause of uveal melanoma is unknown. In a few cases, however, factors are found in association with the disease which may play some part in the aetiology. One such factor is inheritance. Twelve families have been reported with adequate documentation during the last century in which two or more members have had uveal melanomas. At least some of these may be the result of an inherited disorder. On available data inheritance is most likely autosomal dominant with partial expressivity or incomplete penetrance. This report describes two more families each of which have two members with uveal melanomas.

摘要

葡萄膜黑色素瘤的病因尚不清楚。然而,在少数病例中,发现了与该疾病相关的因素,这些因素可能在病因学中起一定作用。其中一个因素是遗传。在上个世纪,已有12个家族有充分记录,其中两个或更多成员患有葡萄膜黑色素瘤。这些病例中至少有一些可能是遗传性疾病的结果。根据现有数据,遗传最有可能是常染色体显性遗传,具有部分表现度或不完全外显率。本报告描述了另外两个家族,每个家族都有两名成员患有葡萄膜黑色素瘤。

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本文引用的文献

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A FAMILY HISTORY OF CHOROIDAL SARCOMA.脉络膜肉瘤家族史
Br J Ophthalmol. 1927 Sep;11(9):443-5. doi: 10.1136/bjo.11.9.443.
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MALIGNANT MELANOMA OF EYE OCCURRING IN TWO SUCCESSIVE GENERATIONS.
Arch Ophthalmol. 1964 Jun;71:805-6. doi: 10.1001/archopht.1964.00970010821005.
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B-K mole syndrome. Cutaneous and ocular malignant melanoma.B-K痣综合征。皮肤和眼部恶性黑色素瘤。
Arch Ophthalmol. 1980 Aug;98(8):1397-9. doi: 10.1001/archopht.1980.01020040249006.
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An apparent small cluster of choroidal melanoma cases.
Am J Ophthalmol. 1982 Aug;94(2):172-80. doi: 10.1016/0002-9394(82)90072-1.

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