A Novel COL1A1-CAMTA1 Rearrangement in Cranial Fasciitis. (September 2020)

• Record Type: Journal Article
• Authors: Jebastin Thangaiah, Judith; Vickery, Jasmine; Selwanes, Wasim; Al-Haddad, Eman; Perry, Kyle D.; Palanisamy, Nallasivam; Poulik, Janet M.; Williamson, Sean R.; Chitale, Dhananjay A.; Shehata, Bhaig M.
• Is Part Of: International journal of surgical pathology. Volume 28:Number 6(2020)
• Page Start: 678
• Page End: 682
• Publication Date: 2020-09
• Subjects: cranial fasciitis -- USP6 -- familial adenomatous polyposis -- molecular pathology -- β-catenin -- COL1A1 -- CAMTA1; Pathology, Surgical -- Periodicals; 617.07
• DOI: 10.1177/1066896920912485
• Languages: English
• ISSNs: 1066-8969

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.