Early Development of Colonic Adenocarcinoma With Minimal Polyposis in a Young Child With Metastatic Hepatoblastoma and Germline APC Mutation. Issue 8 (November 2021)

• Record Type: Journal Article
• Authors: Liu, Anthony P.Y.; Chung, Patrick H.Y.; Au Yeung, Rex K.H.; Chan, Shing; Wong, Kenneth K.Y.; Leung, Suet-Yi; Chiang, Alan K.S.
• Is Part Of: Journal of pediatric hematology/oncology. Volume 43:Issue 8(2021)
• Publication Date: 2021-11
• Subjects: APC -- hepatoblastoma -- colon cancer -- pediatric -- surveillance; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000002209
• Languages: English
• ISSNs: 1077-4114

Abstract

Abstract : Germline adenomatous polyposis coli ( APC ) gene mutation is a cancer-predisposing condition commonly presenting as familial adenomatous polyposis. We describe a patient first diagnosed at the age of 3 years with metastatic hepatoblastoma. With a positive family history, germline testing confirmed maternally inherited APC mutation (p.Thr899Ansfs*13). The patient was subsequently diagnosed at 8 years with colonic adenocarcinoma in the absence of macroscopic polyposis. Total colectomy with adjuvant chemotherapy was delivered and the patient remained disease-free for 5 years since the second diagnosis. This report demonstrates the importance of considering germline APC mutation in children with hepatoblastoma, who may benefit from the early institution of colonoscopic surveillance.