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Pediatric craniopharyngioma in association with familial adenomatous polyposis

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Abstract

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.

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References

  1. Half E, Bercovich D, Rozen P (2009) Familial adenomatous polyposis. Orphanet J Rare Dis 4:22

    Article  PubMed  PubMed Central  Google Scholar 

  2. Gardner EJ, Richards RC (1953) Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am J Hum Genet 5(2):139–147

    CAS  PubMed  PubMed Central  Google Scholar 

  3. Jasperson KW, Patel SG, Ahnen DJ (1993) APC-associated polyposis conditions, in GeneReviews ((R)). In: Adam MP et al (eds) University of Washington, Seattle University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved. Seattle (WA)

  4. Hamilton SR et al (1995) The molecular basis of Turcot’s syndrome. N Engl J Med 332(13):839–847

    Article  CAS  Google Scholar 

  5. Garnett MR et al (2007) Craniopharyngioma. Orphanet J Rare Dis 2:18

    Article  PubMed  PubMed Central  Google Scholar 

  6. Larkin SJ, Ansorge O (2013) Pathology and pathogenesis of craniopharyngiomas. Pituitary 16(1):9–17

    Article  PubMed  Google Scholar 

  7. Bunin GR et al (1998) The descriptive epidemiology of craniopharyngioma. J Neurosurg 89(4):547–551

    Article  CAS  PubMed  Google Scholar 

  8. Gabel BC et al (2017) Unusual and rare locations for craniopharyngiomas: clinical significance and review of the literature. World Neurosurg 98:381–387

    Article  PubMed  Google Scholar 

  9. Alvarez Salgado JA et al (2017) [Ectopic craniopharyngioma and Gardner’s syndrome: case report and literature review]. Neurocirugia (Astur) 28(2):97–101

    Article  Google Scholar 

  10. Pena AH et al (2016) Ectopic craniopharyngioma of the fourth ventricle in a patient with Gardner syndrome. Clin Imaging 40(2):232–236

    Article  PubMed  Google Scholar 

  11. Kim MS et al (2014) Primary intracranial ectopic craniopharyngioma in a patient with probable Gardner’s syndrome. J Neurosurg 120(2):337–341

    Article  PubMed  Google Scholar 

  12. Bozbuga M et al (2011) Primary cerebellopontine angle craniopharyngioma in a patient with Gardner syndrome. J Clin Neurosci 18(2):300–301

    Article  PubMed  Google Scholar 

  13. Aquilina K et al (2006) Primary cerebellopontine angle craniopharyngioma in a patient with gardner syndrome. Case report and review of the literature. J Neurosurg 105(2):330–333

    Article  PubMed  Google Scholar 

  14. Link MJ, Driscoll CL, Giannini C (2002) Isolated, giant cerebellopontine angle craniopharyngioma in a patient with Gardner syndrome: case report. Neurosurgery 51(1):221–225; discussion 225–6

    Article  PubMed  Google Scholar 

  15. Mody RJ et al (2015) Integrative clinical sequencing in the management of refractory or relapsed cancer in youth. Jama 314(9):913–925

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  16. Holsken A et al (2016) Adamantinomatous and papillary craniopharyngiomas are characterized by distinct epigenomic as well as mutational and transcriptomic profiles. Acta Neuropathol Commun 4:20

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  17. Gomes DC et al (2015) Sonic Hedgehog pathway is upregulated in adamantinomatous craniopharyngiomas. Eur J Endocrinol 172(5):603–608

    Article  CAS  PubMed  Google Scholar 

  18. Park HW et al (2015) Alternative Wnt signaling activates YAP/TAZ. Cell 162(4):780–94

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  19. Yang G et al (2018) The TET2/E-cadherin/beta-catenin regulatory loop confers growth and invasion in hepatocellular carcinoma cells. Exp Cell Res 363(2):218–226

    Article  CAS  PubMed  Google Scholar 

  20. Krausova M, Korinek V (2014) Wnt signaling in adult intestinal stem cells and cancer. Cell Signal 26(3):570–579

    Article  CAS  PubMed  Google Scholar 

  21. Buslei R et al (2005) Common mutations of beta-catenin in adamantinomatous craniopharyngiomas but not in other tumours originating from the sellar region. Acta Neuropathol 109(6):589–597

    Article  CAS  PubMed  Google Scholar 

  22. Amary MF et al (2007) Detection of beta-catenin mutations in paraffin-embedded sporadic desmoid-type fibromatosis by mutation-specific restriction enzyme digestion (MSRED): an ancillary diagnostic tool. Am J Surg Pathol 31(9):1299–1309

    Article  PubMed  Google Scholar 

  23. Nieuwenhuis MH et al (2011) A nation-wide study comparing sporadic and familial adenomatous polyposis-related desmoid-type fibromatoses. Int J Cancer 129(1):256–261

    Article  CAS  PubMed  Google Scholar 

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Acknowledgements

Funding

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

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Authors and Affiliations

  1. Morgan Adams Neuro-Oncology Program, Children’s Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA

    Nathan A. Dahl & Lindsey Hoffman

  2. Morgan Adams Foundation Pediatric Brain Tumor Research Program, Denver, CO, USA

    Nathan A. Dahl, Todd C. Hankinson & Lindsey Hoffman

  3. Neuropathology Division, Department of Pathology, University of Michigan, Ann Arbor, MI, USA

    Drew Pratt & Sandra Camelo-Piragua

  4. Center for Translational Pathology, Department of Pathology, University of Michigan, Ann Arbor, MI, USA

    Chandan Kumar-Sinha & Arul M. Chinnaiyan

  5. Pediatric Hematology-Oncology, Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA

    Rajen J. Mody & Carl Koschmann

  6. Pediatric Gastroenterology, Children’s Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA

    Seth Septer

  7. Departments of Neurosurgery and Pediatrics, Children’s Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA

    Todd C. Hankinson

  8. Department of Pediatrics, University of Colorado School of Medicine, 12800 E 19th Ave, Aurora, CO, 80045, USA

    Nathan A. Dahl

Authors
  1. Nathan A. Dahl
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  2. Drew Pratt
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  3. Sandra Camelo-Piragua
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  4. Chandan Kumar-Sinha
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  5. Rajen J. Mody
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  6. Seth Septer
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  7. Todd C. Hankinson
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  8. Arul M. Chinnaiyan
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  9. Carl Koschmann
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  10. Lindsey Hoffman
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Correspondence to Nathan A. Dahl.

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Dahl, N.A., Pratt, D., Camelo-Piragua, S. et al. Pediatric craniopharyngioma in association with familial adenomatous polyposis. Familial Cancer 18, 327–330 (2019). https://doi.org/10.1007/s10689-019-00126-8

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  • DOI: https://doi.org/10.1007/s10689-019-00126-8

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