Desmoid-type fibromatosis in a boy with Down syndrome

Hisashi Ishida, Kousuke Chayama, Kiichiro Kanemitsu, Kana Washio, Takehiro Tanaka, Akira Shimada

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


Patients with Down syndrome (DS) have a markedly higher incidence of childhood leukemia, but a lower incidence of most solid tumors, compared with age-matched euploid individuals. Trisomy 21 might be protective against tumorigenesis because of several tumor suppressive mechanisms. Desmoid-type fibromatosis (DF) is a rare monoclonal, fibroblastic proliferation characterized by a variable clinical course. In recent reports, almost all cases of DF involved genomic alterations associated with activation of the Wnt/β-catenin pathway. Here, we report the case of a boy with DS who developed DF without activation of the Wnt/β-catenin pathway. To the best of our knowledge, this is the first case of DS involving DF.

Original languageEnglish
Pages (from-to)624-626
Number of pages3
JournalPediatrics International
Issue number5
Publication statusPublished - May 2017


  • Down syndrome
  • desmoid-type fibromatosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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