Courtney Rachael, Ranganathan Sarangarajan
Divisions of *Pediatric Hematology/Oncology †Pediatric Pathology, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, PA.
J Pediatr Hematol Oncol. 2015 Apr;37(3):215-8. doi: 10.1097/MPH.0000000000000281.
We present an infant with 2 simultaneous, but histologically distinct tumors with a novel germline p53 mutation. The child was found to have a paraspinal neuroblastoma, a concurrent adrenal cortical carcinoma, and an I162F p53 gene mutation. We review the associations of germline p53 mutations (or Li-Fraumeni syndrome) with both tumor types and the current research in similar germline p53 mutations. Finally, we discuss the multiple ways in which our patient is unique including the paucity of cases with simultaneous but histologically unrelated tumors and the fact that our patient is the first reported case of an I162F germline p53 mutation.
我们报告了一名患有两种同时发生但组织学上不同的肿瘤且存在新型种系p53突变的婴儿。该患儿被发现患有椎旁神经母细胞瘤、同时并发的肾上腺皮质癌以及I162F p53基因突变。我们回顾了种系p53突变（或李-佛美尼综合征）与这两种肿瘤类型的关联以及目前关于类似种系p53突变的研究。最后，我们讨论了该病例的独特之处，包括同时发生但组织学上不相关的肿瘤病例稀少，以及我们的患者是首例报道的I162F种系p53突变病例。
