A Novel COL1A1-CAMTA1 Rearrangement in Cranial Fasciitis

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.

Benign infiltrative myofibroblastic neoplasms of childhood with USP6 gene rearrangement

“…However, the variant’s subclonal and heterozygous nature argue that it was likely not a primary oncogenic contributor. Furthermore, although aberrant β‐catenin nuclear accumulation can occur in Wnt‐activated, USP6 ‐induced tumours, 8,27 our case did not have nuclear β‐catenin expression. One caveat to this observation is that we performed β‐catenin immunohistochemistry on the non‐proliferative phase tumour.…”

“…ASAP1 , COL1A1 , CNBP , CTNNB1 , E1F1 , FAT1 , FOSL2 , OMD , PAFAH1B1 , RUNX2 , SAR1A , SEC31A , SPARC , STAT3 , TNC , TRAP150 , THRAP3 , USP9X , and, ZNF9 ) 1,25,26 . Among several partner genes reported in nodular fasciitis, MYH9 is the most common 3 ; alternative partners in nodular fasciitis or its variant cranial fasciitis include CALU , COL6A2 , CTNNB1 , RRBP1 , MIR22HG , SPARC , THBS2 , SERPINH1 , CAMTA1 , or COL3A1 8,23,27 . COL1A1 , the typical fusion partner in myositis ossificans and fibro‐osseous pseudotumour of the digits, 10 was fused to USP6 in two of our three cases; the COL1A1 – USP6 fusion also occurs in ABC 25 .…”

Comment on “A Novel COL1A1-CAMTA1 Rearrangement in Cranial Fasciitis”

“…Although USP6 rearrangements are typically recognized as a recurring aberration in nodular fasciitis, the authors detected a novel COL1A1-CAMTA1 gene fusion in the lesion using Archer TM FusionPlex TM chemistry. We commend the authors for this interesting finding, as this No databased fusion 1 Emory University, School of Medicine, Atlanta, Georgia 30322, United States may contribute to the overall gene fusion spectrum of cranial fasciitis. However, we consider that the conclusion of this paper may not be completely supported by our laboratory's quality assessment of the identified COL1A1-CAMTA1 gene fusion using Archer TM FusionPlex TM .…”

“…We read with great interest a recently published case report by Thangaiah et al . 1 The authors presented a case of cranial fasciitis with intracranial extension in a 2-year old boy. Although USP6 rearrangements are typically recognized as a recurring aberration in nodular fasciitis, the authors detected a novel COL1A1-CAMTA1 gene fusion in the lesion using Archer TM FusionPlex TM chemistry.…”