An Asymptomatic, Ectopic Mass as a Presentation of Adrenocortical Carcinoma Due to a Novel Germline <i>TP53</i> p.Phe338Leu Tetramerisation Domain Variant

An Asymptomatic, Ectopic Mass as a Presentation of Adrenocortical Carcinoma Due to a Novel Germline <i>TP53</i> p.Phe338Leu Tetramerisation Domain Variant

Adrenocortical carcinoma (ACC) is a rare cancer in childhood. ACC is frequently associated with germline <i>TP53</i> variants, with founder effects especially due to the p.Arg337His mutation. ACC leads to the secretion of adrenocortical hormones, resulting in endocrine syndromes, which i...

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Bibliographic Details
Main Authors: Justyna Walenciak, Zuzanna Urbanska, Agata Pastorczak, Katarzyna Babol-Pokora, Kamila Wypyszczak, Ewa Bien, Aleksandra Gawlowska-Marciniak, Jozef Kobos, Wieslawa Grajkowska, Joanna Smyczynska, Wojciech Mlynarski, Szymon Janczar
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:Children
Subjects:
Li–Fraumeni syndrome
adrenocortical carcinoma
cancer predisposition
TP53
Online Access:https://www.mdpi.com/2227-9067/10/11/1793

Internet

https://www.mdpi.com/2227-9067/10/11/1793

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