Novel p53 splicing site mutation in Li-Fraumeni-like syndrome with osteosarcoma.

Abstract

We describe a 15-year-old girl with a novel germline p53 splice site mutation who developed an osteosarcoma. She received several cycles of chemotherapy with complete resection of the primary tumor without amputation, and has maintained remission for 18 months. Li-Fraumeni-like syndrome was suspected based on familial history. Sequence analysis revealed the presence of a novel germline p53 gene mutation resulting in a G to A transition at position +1 at the donor splice site of intron 6, creating a 6 amino acid insertion. This case provides interesting insight into the phenotype-genotype correlation in LFL syndrome with a TP53 splicing mutation.

• Authors: Naoto Sakurai, Shotaro Iwamoto, Yoshihiro Miura, Tomoki Nakamura, Akihiko Matsumine, Junji Nishioka, Kaname Nakatani, Yoshihiro Komada
• Journal: Pediatrics international : official journal of the Japan Pediatric Society (Pediatr Int) Vol. 55 Issue 1 Pg. 107-11 (Feb 2013) ISSN: 1442-200X [Electronic] Australia
• PMID: 23409989 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.

Chemical References

• Genetic Markers
• RNA Splice Sites

Topics

• Adolescent
• Bone Neoplasms (diagnosis, genetics)
• Female
• Genes, p53
• Genetic Markers
• Humans
• Li-Fraumeni Syndrome (diagnosis, genetics)
• Mutation
• Osteosarcoma (diagnosis, genetics)
• RNA Splice Sites
• Radiography
• Tibia (diagnostic imaging, pathology)