Metachronous multifocal desmoid-type fibromatoses along the neuraxis with adenomatous polyposis syndrome

Case report

Restricted access

Desmoid-type fibromatosis, aggressive fibromatosis, or desmoid tumor is an uncommon benign but locally aggressive fibroblastic lesion. Although intraabdominal desmoid-type fibromatoses are well described in association with adenomatous polyposis syndrome, their occurrence along the neuraxis is extremely rare. The authors report the case of a 14-year-old boy with metachronous intracranial and spinal desmoid-type fibromatoses with preceding medulloblastoma. He was ultimately diagnosed with adenomatous polyposis syndrome. This is the first reported case of spinal desmoid-type fibromatosis in association with adenomatous polyposis syndrome. The identification of an underlying genetic instability allows for screening to detect lesions and institute measures to avoid preventable mortality from nonneurological tumors.

Article Information

Contributor Notes

Address correspondence to: K. H. Carlos Chung, M.B.B.S., T. Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, New South Wales 2145, Australia. email: cchung@med.usyd.edu.au.
Headings
References
  • 1

    Abraham SCReynolds CLee JHMontgomery EABaisden BLKrasinskas AM: Fibromatosis of the breast and mutations involving the APC/beta-catenin pathway. Hum Pathol 33:39462002. (Erratum in Hum Pathol 33:379 2002)

    • Search Google Scholar
    • Export Citation
  • 2

    Ballo MTZagars GKPollack APisters PWPollack RA: Desmoid tumor: prognostic factors and outcome after surgery, radiation therapy, or combined surgery and radiation therapy. J Clin Oncol 17:1581671999

    • Search Google Scholar
    • Export Citation
  • 3

    Bienz M: APC. Curr Biol 13:R215R2162003

  • 4

    Church J: Familial adenomatous polyposis. Surg Oncol Clin N Am 18:5855982009

  • 5

    Collins BJFischer ACTufaro AP: Desmoid tumors of the head and neck: a review. Ann Plast Surg 54:1031082005

  • 6

    de Silva DCWright MFStevenson DAClark CGray ESHolmes JD: Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2-year-old girl with familial adenomatous polyposis. Cancer 77:9729761996

    • Search Google Scholar
    • Export Citation
  • 7

    Fletcher CDMUnni KKMertens F: World Health Organization Classification of Tumours Pathology and Genetics Tumours of Soft Tissue and Bone LyonIARC Press2002

    • Search Google Scholar
    • Export Citation
  • 8

    Janinis JPatriki MVini LAravantinos GWhelan JS: The pharmacological treatment of aggressive fibromatosis: a systematic review. Ann Oncol 14:1811902003

    • Search Google Scholar
    • Export Citation
  • 9

    Miyoshi YIwao KNawa GYoshikawa HOchi TNakamura Y: Frequent mutations in the beta-catenin gene in desmoid tumors from patients without familial adenomatous polyposis. Oncol Res 10:5915941998

    • Search Google Scholar
    • Export Citation
  • 10

    Nakayama TTsuboyama TToguchida JHosaka TNakamura TNakayama T: Natural course of desmoid-type fibromatosis. J Orthop Sci 13:51552008

    • Search Google Scholar
    • Export Citation
  • 11

    Nuyttens JJRust PFThomas CR JrTurrisi AT III: Surgery versus radiation therapy for patients with aggressive fibromatosis or desmoid tumors: a comparative review of 22 articles. Cancer 88:151715232000

    • Search Google Scholar
    • Export Citation
  • 12

    Perez-Cruet MJBurke JMWeber RDeMonte F: Aggressive fibromatosis involving the cranial base in children. Neurosurgery 43:109611021998

    • Search Google Scholar
    • Export Citation
  • 13

    Reitamo JJHäyry PNykyri ESaxén E: The desmoid tumor. I. Incidence, sex-, age- and anatomical distribution in the Finnish population. Am J Clin Pathol 77:6656731982

    • Search Google Scholar
    • Export Citation
  • 14

    Stoeckle ECoindre JMLongy MBinh MBKantor GKind M: A critical analysis of treatment strategies in desmoid tumours: a review of a series of 106 cases. Eur J Surg Oncol 35:1291342009

    • Search Google Scholar
    • Export Citation
  • 15

    Sturt NJClark SKSturt NJHClark SK: Current ideas in desmoid tumours. Fam Cancer 5:2752882006

  • 16

    Yazici NYalçin BSoylemezoğlu FCila AAkalan NKoksal Y: Intracranial desmoid tumor with familial adenomatous polyposis coli. Pediatr Neurosurg 44:1401432008

    • Search Google Scholar
    • Export Citation
TrendMD
Metrics

Metrics

All Time Past Year Past 30 Days
Abstract Views 163 141 18
Full Text Views 55 14 0
PDF Downloads 151 21 0
EPUB Downloads 0 0 0
PubMed
Google Scholar