Unusual course of disease and genetic profile in Li-Fraumeni syndrome-associated osteosarcoma - a case report.

ABSTRACT:

Background

Osteosarcoma is a highly malignant tumour associated with numerous and complex genetic alterations like copy number alterations. Recent whole genome studies revealed distinct mutations in several candidate oncogenes. While clinical parameters stratify osteosarcoma patients in risk groups, genetic profiles have not yet been used to tailor tumour treatment. However, specific copy number alterations seem to have a prognostic impact in osteosarcoma treatment. Somatic TP53 gene mutation frequently occurs in sporadic osteosarcoma. When arising germline, TP53 mutation leads to Li-Fraumeni syndrome and may result in early life osteosarcoma. The effect of Li-Fraumeni syndrome on the genetic profile of osteosarcoma and the consideration of the syndrome during cancer treatment are

SUBMITTER: Puzik A 

PROVIDER: S-EPMC8527636 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature