Li Fraumeni Syndrome predisposes to gastro-esophageal junction tumours

Tjandra, D; Boussioutas, A

Author(s): Tjandra, D; Boussioutas, A;
Details: Publication Year 2024-03,Volume 23,Issue #1,Page 29-33
Journal Title: Familial Cancer
Publication Type: Research article
Abstract: Li-Fraumeni Syndrome (LFS), caused by germline pathogenic variants in TP53, predisposes to a wide range of young-onset malignancies, particularly sarcoma, breast and brain cancer. More recently, an increased risk of gastric adenocarcinoma has been recognised, although uptake of surveillance upper endoscopy is unclear. Our retrospective review of 65 patients with LFS, of whom 53.8% had undergone endoscopy, identified four patients (6.2%) with gastro-esophageal junction (GEJ) adenocarcinomas. Two cases were found on asymptomatic screening and were early stage. No cases had family history of gastrointestinal malignancy. Reviewing genomic data from The Cancer Genome Atlas Program, 76.4% of sporadic esophageal adenocarcinomas harboured somatic TP53 pathogenic variants, compared with 39.9% of non-cardia gastric cancers. This similar pattern observed in germline and sporadic cases warrants further investigation. We propose that upper endoscopy be recommended to all patients with LFS, with a focus on appropriate surveillance of the GEJ.
Publisher: Springer Nature
Keywords: Humans; *Li-Fraumeni Syndrome/genetics/diagnosis; Genetic Predisposition to Disease; Tumor Suppressor Protein p53/genetics; Germ-Line Mutation; *Stomach Neoplasms/genetics; *Adenocarcinoma/genetics; Esophagogastric Junction; Endoscopic surveillance; Li Fraumeni syndrome; TP53, hereditary gastric cancer syndromes
Department(s): Familial Cancer Centre
Publisher's Version: https://doi.org/10.1007/s10689-023-00353-0
Open Access at Publisher's Site: https://doi.org/10.1007/s10689-023-00353-0
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2024-03-26 02:32:41

Last Modified: 2024-03-26 02:56:13