Skip to main content

Advertisement

Log in

Case report: metachronous central nervous system desmoid tumours and thyroid carcinoma in a young familial adenomatous polyposis patient

  • Original Article
  • Published:
Familial Cancer Aims and scope Submit manuscript

Abstract

We report a familial adenomatous polyposis patient with a known truncating mutation on exon 15 of the APC gene who developed an invasive follicular thyroid cancer in addition to multiple intra-cranial and spinal desmoids. This combination of manifestations has not previously been recorded in the literature.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Bell B, Mazzaferri E (1993) Familial adenomatous polyposis (Gardner’s Syndrome) and thyroid carcinoma. A case report and review of the literature. Dig Dis Sci 38:185–190

    Article  PubMed  CAS  Google Scholar 

  2. Bertario L, Russo A, Sala P, Eboli M, Giarola M, D’amico F, Radice P (2001) Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis. Int J Cancer 95(2):102–107

    Article  PubMed  CAS  Google Scholar 

  3. Bulow S, Holm N, Mellemgaard A (1988) Papillary thyroid carcinoma in Danish patients with familial adenomatous polyposis. Int J Colorectal Dis 3:29–31

    Article  PubMed  CAS  Google Scholar 

  4. Cetta F, Montalto G, Gori M (2000) Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: results from a European cooperative study. J Clin Endocrin Metab 85:286–292

    Article  CAS  Google Scholar 

  5. Flacke S, Pauleit D, Keller E, Knoepfle G, Textor J, Leutner C, Schild H (1999) Infantile fibromatosis of the neck with intracranial involvement: MR and CT findings. Am J Neuroradiol 20:923–925

    PubMed  CAS  Google Scholar 

  6. Gurbuz AK, Giardiello FM, Petersen GM, Krush AJ, Offerhaus GJA, Booker SV, Hamilton SR (1994) Desmoid tumours in familial adenomatous polyposis. Gut 35:377–381

    Article  PubMed  CAS  Google Scholar 

  7. Half E, Bercovich D and Rozen P (2009) Familial adenomatous polyposis. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2772987/?tool=pubmed

  8. Harach H, Williams G, Williams E (1994) Familial adenomatous polyposis associated thyroid carcinoma: a distinct type of follicular cell neoplasm. Histopathology 25:549–561

    Article  PubMed  CAS  Google Scholar 

  9. Jarrar A, Milas M, Mitchell J, Laguardia L, Malley M, Berber E, Church J (2011) Screening for thyroid cancer in patients with familial adenomatous polyposis. Ann Surg 253(3):515–521

    Article  PubMed  Google Scholar 

  10. Jenny B, Kaye AH, Gonzales MF (2002) Aggressive intracranial fibromatosis: case report. J Clin Neurosci 9:450–453

    Article  PubMed  CAS  Google Scholar 

  11. Kenning TJ, Kanwar VS, Qian J, Deshaies EM (2009) A de novo desmoid tumour of the surgical site following foramen magnum meningioma resection in a patient with Gardner’s Syndrome: a case report and review of the literature. J Neurooncol 91(1):101–111

    Article  Google Scholar 

  12. Kong KY, Kang HS, Jung HW, Kim J and Lee CK (2001) MR Findings of desmoplastic fibroma of the Spine. Acta Radiologica 41(1)

  13. Lynch HT, Fitzgibbons R Jr (1996) Surgery, desmoid tumours, and familial adenomatous polyposis: case report and literature review. Am J Gastroenterol 91(12):2598–2601

    PubMed  CAS  Google Scholar 

  14. Markowitz A, Chang G, Cortina L, Salo-Mullen E, Guillem J (2011) Thyroid cancer and benign thyroid disease in patients with familial adenomatous polyposis (FAP): Memorial Sloan-Kettering Cancer Center (MSKCC) registry experience. Hereditary Can Clin Prac 9:24

    Article  Google Scholar 

  15. Nieuwenhuis MH, Casparie M, Mathus-Vliegen LM, Dekkers OM, Hogendoorn PC, and Vasen HFA (2011) A nation-wide study comparing sporadic and famiilial adenomatous polyposis (FAP) related desmoid-type fibromatous. Springer, Abstracts (S21)

  16. Raguse JD, Gath HJ, Oettle H, Bier J (2004) Interferon-induced remission of rapidly growing aggressive fibromatosis in the temporal fossa. Int J Oral Maxillofac Surg 33(6):606–609

    Article  PubMed  Google Scholar 

  17. Shindle MK, Khanna AJ, McCarthy EF, O’Neill PJ, Sponseller PD (2002) Desmoid tumour of the spinal canal causing scolosis and paralysis. Spine 27(12):304–307

    Article  Google Scholar 

  18. De Silva DC, Wright MF, Stevenson DA, Clark C, Gray ES, Holmes JD, Dunlop MG (1996) Cranial desmoid tumour associated with homozygous inactivation of adenomatosis polyposis coli gene in a 2 year old girl with familial adenomatous polyposis. Cancer 77:972–976

    Article  PubMed  Google Scholar 

  19. Sturt NJH, Gallagher MC, Bassett P, Philp CR, Neale KF, Tomlinson IPM, Phillips RKS (2004) Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation. Int J Gastroenterol Hepatol 53:1832–1836

    CAS  Google Scholar 

  20. Vasen HFA, Möslein G, Alonso A, Aretz S, Bernstein I, Bertario L, Wijnen J (2008) Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 57:704–713

    Article  PubMed  CAS  Google Scholar 

  21. Yazici N, Yalcin B, Soylemezoglu F, Cila A, Akalan N, Koksal Y, Buyukpamukcu M (2008) Intracranial desmoid tumour with familial adenomatous polyposis coli. Pediatr Neurosurg 44:140–143

    Article  PubMed  Google Scholar 

  22. Young J, Barker M, Robertson T, Nasioulas S, Tannenberg A, Buttenshaw RL, Leggett BA (2002) A case of myoepithelial carcinoma displaying biallelic inactivation of the tumour suppressor gene APC in a patient with familial adenomatous polyposis. J Clin Pathol 55:230–231

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to A. D. Spigelman.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Butel-Simoes, G.I., Spigelman, A.D. Case report: metachronous central nervous system desmoid tumours and thyroid carcinoma in a young familial adenomatous polyposis patient. Familial Cancer 12, 647–649 (2013). https://doi.org/10.1007/s10689-013-9640-0

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10689-013-9640-0

Keywords

Navigation