title: 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: Departments of Pediatrics and Developmental Science Orthopaedic Surgery, Mie University Graduate School of Medicine Division of Personalized Medicine, Mie University Hospital, Tsu, Mie, Japan.
authors: Naoto
authors: N
authors: Sakurai
authors: Shotaro
authors: S
authors: Iwamoto
authors: Yoshihiro
authors: Y
authors: Miura
authors: Tomoki
authors: T
authors: Nakamura
authors: Akihiko
authors: A
authors: Matsumine
authors: Junji
authors: J
authors: Nishioka
authors: Kaname
authors: K
authors: Nakatani
authors: Yoshihiro
authors: Y
authors: Komada
mesh_terms: D000293:Adolescent; D001859:Bone Neoplasms / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D016158:Genes, p53; D005819:Genetic Markers; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D012516:Osteosarcoma / Q000175:diagnosis / Q000235:genetics*; D022821:RNA Splice Sites; D011859:Radiography; D013977:Tibia / Q000000981:diagnostic imaging / Q000473:pathology
chemical_list: D005819:Genetic Markers; D022821:RNA Splice Sites