Sotos Syndrome with NSDI Gene Mutations and Li-Fraumeni Syndrome with TP53 Gene Mutations in a Patient with Multiple Gastric Signet-Ring Cell Carcinomas

Dig Dis Sci. 2024 Feb;69(2):315-317. doi: 10.1007/s10620-023-08229-0. Epub 2023 Dec 26.

Authors

Yifan Li^#¹, Weiwei Wang^#¹, Wenqi Sun¹, Xinrong Wu¹, Bei Zhao¹, Xiaotan Dou¹, Lei Wang¹, Min Chen²

Affiliations

¹ Department of Gastroenterology, The Affiliated Drum Tower Hospital of Nanjing University, Medical School, Zhongshan Road No. 321, Gulou District, Nanjing, 210008, People's Republic of China.
² Department of Gastroenterology, The Affiliated Drum Tower Hospital of Nanjing University, Medical School, Zhongshan Road No. 321, Gulou District, Nanjing, 210008, People's Republic of China. [email protected].

^# Contributed equally.

PMID: 38147236
DOI: 10.1007/s10620-023-08229-0

No abstract available

Publication types

Case Reports

MeSH terms

Carcinoma, Signet Ring Cell* / genetics
Genes, p53
Genetic Predisposition to Disease
Germ-Line Mutation
Humans
Li-Fraumeni Syndrome* / genetics
Mutation
Sotos Syndrome* / genetics
Stomach Neoplasms* / genetics
Tumor Suppressor Protein p53 / genetics

Substances

TP53 protein, human
Tumor Suppressor Protein p53