Open AccessPediatric craniopharyngioma in association with familial adenomatous polyposis
Author(s) -
Nathan Dahl,
Drew Pratt,
Sandra Camelo-Piragua,
Chandan KumarSinha,
Rajen Mody,
Seth Septer,
Todd C. Hankinson,
Arul M. Chinnaiyan,
Carl Koschmann,
Lindsey M. Hoffman
Publication year - 2019
Publication title -
familial cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.946
H-Index - 57
eISSN - 1573-7292
pISSN - 1389-9600
DOI - 10.1007/s10689-019-00126-8
Subject(s) - craniopharyngioma , familial adenomatous polyposis , medicine , pathology , smarcb1 , cancer , biology , colorectal cancer , genetics , endocrinology , chromatin remodeling , chromatin , dna
Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome driven by germline loss-of-function of the APC gene and phenotypically manifests with intestinal polyposis and a variety of extra-intestinal bone and soft tissue tumors. Craniopharyngioma is not a well-described FAP-associated tumor, however, six cases have been reported in adults, all demonstrating ectopic location and adamantinomatous histology. We report the first case of craniopharyngioma associated with FAP in a pediatric patient. A seven-year-old girl who presented with headache and vomiting was found on magnetic resonance imaging to have a suprasellar mass with cystic extension to the pre-pontine space. The tumor represented an adamantinomatous craniopharyngioma (aCP) with nuclear β-catenin expression. Whole exome sequencing confirmed a CTNNB1 activating point mutation and a germline APC frameshift variant. This case represents the first FAP-associated craniopharyngioma in childhood…. expanding our understanding of the molecular underpinnings driving tumorigenesis in this unique patient.