Morgan Adams Neuro-Oncology Program, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA.
Morgan Adams Foundation Pediatric Brain Tumor Research Program, Denver, CO, USA.
Fam Cancer. 2019 Jul;18(3):327-330. doi: 10.1007/s10689-019-00126-8.
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.
家族性腺瘤性息肉病（FAP）是一种由 APC 基因突变导致的癌症易感性综合征，其表型为肠道息肉病和多种肠外骨和软组织肿瘤。颅咽管瘤并不是一种常见的 FAP 相关肿瘤，但在成人中已报道了六例，均表现为异位位置和造釉细胞瘤样组织学。我们报告了首例 FAP 相关颅咽管瘤的儿科病例。一名 7 岁女孩因头痛和呕吐就诊，磁共振成像显示鞍上区有囊性延伸至桥前池的肿块。肿瘤为造釉细胞瘤样颅咽管瘤（aCP），核 β-连环蛋白表达阳性。全外显子组测序证实 CTNNB1 激活点突变和 APC 种系移码变异。该病例代表了首例儿童 FAP 相关颅咽管瘤……，扩展了我们对该独特患者肿瘤发生的分子基础的理解。
