A Novel COL1A1-CAMTA1 Rearrangement in Cranial Fasciitis

Int J Surg Pathol. 2020 Sep;28(6):678-682. doi: 10.1177/1066896920912485. Epub 2020 Mar 19.

Abstract

Cranial fasciitis is an uncommon benign fibroblastic tumor, generally histologically identical to nodular fasciitis. It develops almost exclusively in children. Cranial fasciitis manifests clinically as a painless rapidly growing solitary nodule in the head and neck area, frequently eroding the underlying bone. Thus, this entity is often confused with aggressive lesions such as sarcomas, both clinically and radiologically. Histopathologic examination is essential to differentiate between cranial fasciitis and fibrohistiocytic or even sarcomatous lesions observed in children. In this article, we present a case of cranial fasciitis with intracranial extension in a 2-year-old boy. Although USP6 rearrangement has recently been recognized as a recurring alteration in nodular fasciitis, we present a novel COL1A1-CAMTA1 fusion in this lesion.

Keywords: CAMTA1; COL1A1; USP6; cranial fasciitis; familial adenomatous polyposis; molecular pathology; β-catenin.

Publication types

  • Case Reports

MeSH terms

  • Calcium-Binding Proteins / genetics*
  • Child, Preschool
  • Collagen Type I / genetics*
  • Collagen Type I, alpha 1 Chain
  • Fasciitis
  • Humans
  • Male
  • Myofibroma / genetics*
  • Myofibroma / pathology
  • Oncogene Fusion / genetics*
  • Skull Neoplasms / genetics*
  • Skull Neoplasms / pathology
  • Trans-Activators / genetics*

Substances

  • CAMTA1 protein, human
  • Calcium-Binding Proteins
  • Collagen Type I
  • Collagen Type I, alpha 1 Chain
  • Trans-Activators