Juvenile rectal cancer in a family with Li-Fraumeni syndrome

A 17-year-old girl, who presented with lower abdominal pain and bloody stool which started three months previously, was referred to our hospital. Colonoscopy showed a type 3 tumor in the rectosigmoid colon. Chest and abdominal CT scan showed the tumor in the rectosigmoid with regional lymph node swelling and absence of obvious distant metastasis. Laparoscopic higher anterior resection for the rectal cancer was performed. Pathological examination revealed pStage IIIb with pT4a and pN2. Immunohistochemical examination showed that TP53 protein in the nucleus was strongly stained in both cancers and normal adjacent colon tissues. Because her mother suffered from osteosarcoma, breast cancer and neurinoma, and her brother had died of osteosarcoma, this family met the criteria of classic Li-Fraumeni syndrome with her mother as the proband. The gene analysis for both the patient and her mother was performed and demonstrated a germline mutation of TP53 gene. Not only the patient but all other family members are the target of surveillance for related tumors of Li Fraumeni syndrome. In addition, gene analysis should be considered for patients with early-onset cancer.