Sakurai Naoto, Iwamoto Shotaro, Miura Yoshihiro, Nakamura Tomoki, Matsumine Akihiko, Nishioka Junji, Nakatani Kaname, Komada Yoshihiro
Departments of Pediatrics and Developmental Science Orthopaedic Surgery, Mie University Graduate School of Medicine Division of Personalized Medicine, Mie University Hospital, Tsu, Mie, Japan.
Pediatr Int. 2013 Feb;55(1):107-11. doi: 10.1111/j.1442-200X.2012.03641.x.
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.
我们描述了一名15岁的女孩，她携带一种新的种系p53剪接位点突变，并发了骨肉瘤。她接受了几个周期的化疗，原发肿瘤得以完全切除，未进行截肢手术，目前已维持缓解状态18个月。基于家族病史，怀疑她患有李-弗劳梅尼样综合征。序列分析显示存在一种新的种系p53基因突变，该突变导致第6内含子供体剪接位点的+1位置由G突变为A，产生了6个氨基酸的插入。该病例为具有TP53剪接突变的李-弗劳梅尼样综合征的表型-基因型相关性提供了有趣的见解。
