<aside> 📋

Genetic Tumor Syndromes are inherited disorders that significantly increase an individual's risk for developing various types of tumors, often at a younger age than the general population. These syndromes are caused by germline mutations in tumor suppressor genes, oncogenes, or DNA repair genes.

</aside>

Classification

WHO Tumor Classification (5th edition)

Major Genetic Tumor Syndromes

1. Li-Fraumeni syndrome

• Gene: TP53
• Inheritance: Autosomal dominant
• Cancers: Sarcoma, breast cancer (early-onset), brain tumors, adrenocortical carcinoma, leukemia
• Imaging: Whole-body MRI for surveillance; avoid ionizing radiation due to radiosensitivity

2. Familial adenomatous polyposis (FAP)

• Gene: APC
• Inheritance: Autosomal dominant
• Cancers: Colorectal adenocarcinoma (nearly 100% by age 40 without prophylaxis), duodenal and thyroid cancers
• Imaging: Colonoscopy, upper GI endoscopy, CT/MRI for desmoid tumors

3. Hereditary nonpolyposis colorectal cancer (HNPCC) “Lynch syndrome”