Li-Fraumeni Syndrome with Unusual Synchronous Malignancies: A Case Report.

ABSTRACT:

Introduction

Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disorder brought on by pathogenic mutations in the TP53 tumor suppressor gene. LFS is characterized by a high lifetime risk of developing various cancers at a relatively young age.

Case presentation

We are presenting a 48-year-old male with a diagnosis of LFS that was confirmed by a genetic test triggered by the patient's son's diagnosis of LFS and leukemia. The patient's main symptoms were abdominal pain and weight loss. The patient was diagnosed with two synchronous primary tumors: first, a metastatic gastric invasive adenocarcinoma that is microsatellite instability (MSI) -high; and second, a low grade (G1) (non-function) well-differentiated pancreatic neuroendocrine tumor. These cancers are not t

SUBMITTER: Al Mansor E 

PROVIDER: S-EPMC10769503 | biostudies-literature | 2024 Jan-Dec

REPOSITORIES: biostudies-literature