Composite Adrenocortical Carcinoma and Neuroblastoma in an Infant With a TP53 Germline Mutation: A Case Report and Literature Review
| Autor: | Ying Zhou, Jing Ma, Yijin Gao, Yuejia Tang, Tingting Yu, Min Xu |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Male
Heterozygote Mothers Disease Li-Fraumeni Syndrome 03 medical and health sciences Neuroblastoma Young Adult 0302 clinical medicine Germline mutation medicine Adrenocortical Carcinoma Adrenocortical carcinoma Humans Genetic Predisposition to Disease neoplasms TP53 Gene Mutation Germ-Line Mutation business.industry Infant Heterozygote advantage Hematology medicine.disease Oncology Li–Fraumeni syndrome 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Cancer research Hereditary Cancer Female Tumor Suppressor Protein p53 business 030215 immunology |
| Zdroj: | Journal of pediatric hematology/oncology. 41(5) |
| ISSN: | 1536-3678 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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