Increasing genomic instability during cancer therapy in a patient with Li-Fraumeni syndrome.

ABSTRACT:

Background

Li-Fraumeni syndrome (LFS) is a cancer predisposition disorder characterized by germline mutations of the p53 tumor-suppressor gene. In response to DNA damage, p53 stimulates protective cellular processes including cell-cycle arrest and apoptosis to prevent aberrant cell proliferation. Current cancer therapies involve agents that damage DNA, which also affect non-cancerous hematopoietic stem/progenitor cells. Here, we report on a child with LFS who developed genomic instability during craniospinal irradiation for metastatic choroid plexus carcinoma (CPC).

Case presentation

This previously healthy 4-year-old boy presented with parieto-temporal brain tumor, diagnosed as CPC grade-3. Screening for cancer-predisposing syndrome revealed heterozygous p53 germline mutati

SUBMITTER: Schuler N 

PROVIDER: S-EPMC5862648 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature