A subset of cranial fasciitis is associated with dysregulation of the Wnt/β-catenin pathway

Dinesh Rakheja, Jacqulin C. Cunningham, Midori Mitui, Ashish S Patel, Gail E. Tomlinson, Arthur G. Weinberg

Research output: Contribution to journalArticle

25 Scopus citations

Abstract

Cranial fasciitis, an unusual fibroproliferative lesion that occurs in the scalp of infants, is considered a posttraumatic reactive process similar to nodular fasciitis. Its pathobiology has not been investigated. Over the last 15 years, we diagnosed cranial fasciitis in six children; in one case, the lesion recurred after 4 years. This lesion and two others showed aberrant, diffuse nuclear reactivity for β-catenin. One of the lesions with aberrant nuclear β-catenin occurred in a child with a history of familial adenomatous polyposis (FAP) and a germline frameshift adenomatous polyposis coli (APC) mutation, c.878delG. The other APC allele in this tumor showed an acquired nonsense mutation, c.4132C → T. Both these mutations lead to translation of a truncated APC protein. The other two cases of cranial fasciitis with aberrant nuclear β-catenin occurred sporadically. One of these showed a point mutation, c.122C → T, in exon 3 of CTNNB1. This mutation causes replacement of threonine with isoleucine at codon 41, leading to loss of a phosphorylation site in the β-catenin protein. The third case with nuclear β-catenin staining was the single one that showed recurrence. This tumor did not show mutations in exon 3 of CTNNB1 or in exons 8/9/16 of APC. The results of this small study indicate a dysregulation of the Wnt/β-catenin pathway in a subset of cranial fasciitis, suggesting that this subset is pathobiologically related to desmoid fibromatoses rather than to nodular fasciitis. Occasional cases of cranial fasciitis may be associated with FAP and serve as an early indicator of this disease, information that would be important in the early diagnosis of FAP in patients without a family history of polyposis.

Original languageEnglish (US)
Pages (from-to)1330-1336
Number of pages7
JournalModern Pathology
Volume21
Issue number11
DOIs
StatePublished - Nov 1 2008

Keywords

  • APC
  • Cranial fasciitis
  • β-catenin

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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    Rakheja, D., Cunningham, J. C., Mitui, M., Patel, A. S., Tomlinson, G. E., & Weinberg, A. G. (2008). A subset of cranial fasciitis is associated with dysregulation of the Wnt/β-catenin pathway. Modern Pathology, 21(11), 1330-1336. https://doi.org/10.1038/modpathol.2008.112