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Composite Adrenocortical Carcinoma and Neuroblastoma in an Infant With a TP53 Germline Mutation

A Case Report and Literature Review

Tang, Yue-Jia MD; Yu, Ting-Ting MD; Ma, Jing MD; Zhou, Ying MD; Xu, Min MD; Gao, Yi-Jin MD

Journal of Pediatric Hematology/Oncology: July 2019 - Volume 41 - Issue 5 - p 399–401
doi: 10.1097/MPH.0000000000001205
Clinical and Laboratory Observations
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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.

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

The authors declare no conflict of interest.

Reprints: Yi-Jin Gao, MD, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dong Fang Road, Shanghai 200127, China (e-mail: gaoyijin@scmc.com.cn).

Received January 4, 2018

Accepted April 2, 2018

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