Tumor Syndromes That Include Bone Tumors: An Update

Maria Gnoli, Francesca Ponti, Luca Sangiorgi

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Pages (from-to)749-764
Number of pages16
JournalSurgical Pathology Clinics
Issue number3
Publication statusPublished - Sep 1 2017


  • Bone cancer
  • Bone neoplasms
  • Genetic syndromes with bone cancer predisposition
  • Osteosarcoma
  • Tumor syndromes

ASJC Scopus subject areas

  • Surgery
  • Pathology and Forensic Medicine


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