一名患有TP53种系突变的婴儿的复合性肾上腺皮质癌和神经母细胞瘤：病例报告及文献综述
Composite Adrenocortical Carcinoma and Neuroblastoma in an Infant With a TP53 Germline Mutation: A Case Report and Literature Review.
作者信息
Tang Yue-Jia, Yu Ting-Ting, Ma Jing, Zhou Ying, Xu Min, Gao Yi-Jin
机构信息
Key Laboratory of Pediatric Hematology & Oncology, Department of Hematology and Oncology, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
出版信息
J Pediatr Hematol Oncol. 2019 Jul;41(5):399-401. doi: 10.1097/MPH.0000000000001205.
Li-Fraumeni syndrome is a kind of hereditary cancer predisposition syndromes, and is caused by TP53 gene mutation. Adrenocortical carcinoma (ACC) is commonly described as the most closely related tumor with this disease. Here, we present a case of a male infant with composite ACC and neuroblastoma who inherited a TP53 gene mutation from his mother, a 20-year-old carrier without any tumor to date. This TP53 gene mutation may be pathogenic and lead to composite malignancies of ACC and neuroblastoma.
李-弗劳梅尼综合征是一种遗传性癌症易感性综合征，由TP53基因突变引起。肾上腺皮质癌（ACC）通常被描述为与该疾病关系最为密切的肿瘤。在此，我们报告一例患有复合型肾上腺皮质癌和神经母细胞瘤的男婴病例，该男婴从其母亲（一名20岁、目前尚无任何肿瘤的携带者）那里继承了TP53基因突变。这种TP53基因突变可能具有致病性，并导致肾上腺皮质癌和神经母细胞瘤的复合型恶性肿瘤。
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