At-risk populations for osteosarcoma: the syndromes and beyond.
At-risk populations for osteosarcoma: the syndromes and beyond.
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作者：
Calvert GT;Randall RL;Jones KB;Cannon-Albright L;Lessnick S;Schiffman JD
骨肉瘤是最常见的原发性骨恶性肿瘤。大多数病例是散发性的，没有已知的遗传或环境原因。可遗传的遗传易感综合征与一小部分骨肉瘤有关。对这些罕见疾病的研究为了解骨肉瘤的分子发病机制提供了见解。对高危家庭进行筛查并监测受影响个体的这些综合征可能有助于对这些人群中的骨肉瘤进行早期诊断和更有效的治疗。本文综述了已知骨肉瘤易感综合征的遗传和临床特征。
Osteosarcoma is the most common primary malignancy of bone. Most cases are sporadic without a known genetic or environmental cause. Heritable genetic predisposition syndromes are associated with a small percentage of osteosarcomas. Study of these rare disorders has provided insight into the molecular pathogenesis of osteosarcoma. Screening of at-risk families and surveillance of affected individuals for these syndromes may permit earlier diagnosis and more effective treatment of osteosarcoma in these populations. This paper reviews the genetic and clinical features of the known osteosarcoma predisposition syndromes.