Li-Fraumeni syndrome

Question 1

Genetic mutation

Answer 1

germline mutation in the TP53 tumor suppressor gene on chromosome 17p13.1

Question 2

Diagnostic

Answer 2

sarcoma before age 45 years AND

● a first degree relative with any cancer before age 45 years AND

● a first or second degree relative with any cancer before age 45 years or a sarcoma at any age

Question 3

Children LFS associated tumor

Answer 3

SHH medulloblastoma
IDH wild type high grade Glioma
Chriod plexus carcinoma

Question 4

Adult tumors LFS

Answer 4

20-40 IDH mutant