AI Article Synopsis
- Tumor syndromes are genetic conditions that lead to early-onset cancers within families, often exhibiting specific patterns like bilateral or multifocal tumors.
- Many of these syndromes are inherited in an autosomal dominant way, but some can also be autosomal recessive or linked to somatic mosaicism.
- This text specifically discusses genetic syndromes that increase the risk of developing osteosarcoma and chondrosarcoma.
Article Abstract
Tumor syndromes, including bone neoplasias, are genetic predisposing conditions characterized by the development of a pattern of malignancies within a family at an early age of onset. Occurrence of bilateral, multifocal, or metachronous neoplasias and specific histopathologic findings suggest a genetic predisposition syndrome. Additional clinical features not related to the neoplasia can be a hallmark of specific genetic syndromes. Mostly, those diseases have an autosomal dominant pattern of inheritance with variable percentage of penetrance. Some syndromic disorders with an increased tumor risk may show an autosomal recessive transmission or are related to somatic mosaicism. Many genetic tumor syndromes are known. This update is specifically focused on syndromes predisposing to osteosarcoma and chondrosarcoma.
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| http://dx.doi.org/10.1016/j.path.2017.04.009 | DOI Listing |
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