Supplementary Material for: Li-Fraumeni Syndrome with Unusual Type Related Malignancies: Case Report

Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disorder brought on by pathogenic mutations in the TP53 tumor suppressor gene. It is characterized by a high lifetime risk of developing various cancers at a relatively young age. We are presenting a 48-year-old male with LFS that confirmed by genetic test triggered by leukemia diagnosis of his son this year. The main symptoms were abdominal pain & weight loss. Patient diagnosed recently by two synchronous primary tumors, gastric invasive Adenocarcinoma with MSI-high & low grade Well-differentiated pancreatic Neuroendocrine Tumor, not usually common type of cancers related to LFS. Our radiological assessment showed significant response in gastric cancer and stable disease in pancreatic neuroendocrine tumor after eight cycles of chemo-immunotherapy in form of (FOLFOX-Nivolumab).
Gastric cancer & neuroendocrine tumor considered as unusual associated type of cancers related to LFS. Further exploration required to determine the appropriate clinical management especially in LFS patients who had a cancer with MSI-high status.