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遗传性多发性骨软骨瘤:一家系报告

Hereditary multiple exostoses: report of a kindred.

作者信息

Gordon S L, Buchanan J R, Ladda R L

出版信息

J Med Genet. 1981 Dec;18(6):428-30. doi: 10.1136/jmg.18.6.428.

DOI:10.1136/jmg.18.6.428
PMID:6977644
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1048787/
Abstract

In a large family with 37 members with multiple exostoses, only one person has developed sarcomatous degeneration of a lesion. Our review of published reports revealed great variation in the incidence of malignancy in multiple exostoses (10 to 25%). Most studies had sampling errors leading to the apparent overstatement of risk. In large pedigrees with essentially complete ascertainment of affected subjects, the risk of malignancy is nearer 3% or less. This lower risk for malignancy may be more appropriate in counselling affected subjects.

摘要

在一个有37名成员患多发性外生骨疣的大家庭中,只有一人发生了病损的肉瘤样变性。我们对已发表报告的回顾显示,多发性外生骨疣的恶性肿瘤发生率差异很大(10%至25%)。大多数研究存在抽样误差,导致风险明显被高估。在基本完全确定受影响个体的大型家系中,恶性肿瘤的风险接近3%或更低。这种较低的恶性肿瘤风险在为受影响个体提供咨询时可能更合适。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/036f/1048787/341057fd5ae5/jmedgene00122-0028-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/036f/1048787/b87d4acd89ef/jmedgene00122-0027-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/036f/1048787/341057fd5ae5/jmedgene00122-0028-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/036f/1048787/b87d4acd89ef/jmedgene00122-0027-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/036f/1048787/341057fd5ae5/jmedgene00122-0028-a.jpg

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引用本文的文献

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Chondrosarcoma transformation in hereditary multiple exostoses: A systematic review and clinical and cost-effectiveness of a proposed screening model.遗传性多发性骨软骨瘤中的软骨肉瘤转变:一项系统评价及一种拟议筛查模型的临床与成本效益分析
J Bone Oncol. 2018 Oct 4;13:114-122. doi: 10.1016/j.jbo.2018.09.011. eCollection 2018 Nov.
2
Novel exostosin-2 mutation identified in a Chinese family with hereditary multiple osteochondroma.在中国一个遗传性多发性骨软骨瘤家系中鉴定出新型外生骨疣蛋白-2突变。
Oncol Lett. 2018 Apr;15(4):4383-4389. doi: 10.3892/ol.2018.7838. Epub 2018 Jan 22.
3
What is the Proportion of Patients With Multiple Hereditary Exostoses Who Undergo Malignant Degeneration?

本文引用的文献

1
Sarcomatous change in three brothers with diaphysial aclasis.三名骨干发育异常的兄弟发生肉瘤样变。
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HEREDITARY MULTIPLE EXOSTOSIS.遗传性多发性骨软骨瘤
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Chondrosarcoma in hereditary multiple exostosis.遗传性多发性骨软骨瘤中的软骨肉瘤
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S Afr Med J. 1974 Apr 6;48(16):671-6.