Familial Cancer

, Volume 18, Issue 3, pp 327–330 | Cite as

Pediatric craniopharyngioma in association with familial adenomatous polyposis

  • Nathan A. DahlEmail author
  • Drew Pratt
  • Sandra Camelo-Piragua
  • Chandan Kumar-Sinha
  • Rajen J. Mody
  • Seth Septer
  • Todd C. Hankinson
  • Arul M. Chinnaiyan
  • Carl Koschmann
  • Lindsey Hoffman
Short Communication


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.


Familial adenomatous polyposis Craniopharyngioma Pediatric Brain tumor 




support for this study included a National Institutes of Health (NIH) Clinical Sequencing Exploratory Research (CSER) Award (1UM1HG006508).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Nature B.V. 2019

Authors and Affiliations

  • Nathan A. Dahl
    • 1
    • 2
    • 8
    Email author
  • Drew Pratt
    • 3
  • Sandra Camelo-Piragua
    • 3
  • Chandan Kumar-Sinha
    • 4
  • Rajen J. Mody
    • 5
  • Seth Septer
    • 6
  • Todd C. Hankinson
    • 2
    • 7
  • Arul M. Chinnaiyan
    • 4
  • Carl Koschmann
    • 5
  • Lindsey Hoffman
    • 1
    • 2
  1. 1.Morgan Adams Neuro-Oncology Program, Children’s Hospital ColoradoUniversity of Colorado School of MedicineAuroraUSA
  2. 2.Morgan Adams Foundation Pediatric Brain Tumor Research ProgramDenverUSA
  3. 3.Neuropathology Division, Department of PathologyUniversity of MichiganAnn ArborUSA
  4. 4.Center for Translational Pathology, Department of PathologyUniversity of MichiganAnn ArborUSA
  5. 5.Pediatric Hematology-Oncology, Department of PediatricsUniversity of MichiganAnn ArborUSA
  6. 6.Pediatric Gastroenterology, Children’s Hospital ColoradoUniversity of Colorado School of MedicineAuroraUSA
  7. 7.Departments of Neurosurgery and Pediatrics, Children’s Hospital ColoradoUniversity of Colorado School of MedicineAuroraUSA
  8. 8.Department of PediatricsUniversity of Colorado School of MedicineAuroraUSA

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