Int J Surg Pathol. 2020 Mar 19:1066896920912485. doi: 10.1177/1066896920912485. [Epub ahead of print]
A Novel COL1A1-CAMTA1 Rearrangement in Cranial Fasciitis.
Jebastin Thangaiah J1, Vickery J2, Selwanes W3, Al-Haddad E3, Perry KD1, Palanisamy N1, Poulik JM3, Williamson SR1,2, Chitale DA1, Shehata BM3.
Author information
- 1
- Henry Ford Health System, Detroit, MI, USA.
- 2
- Wayne State University, Detroit, MI, USA.
- 3
- Children's Hospital of Michigan, Detroit, MI, USA.
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
- PMID:
- 32192385
- DOI:
- 10.1177/1066896920912485
