USP6 Gene Rearrangement by FISH Analysis in Cranial Fasciitis: A Report of Three Cases

Head and Neck Pathology - 2019
Christian Salib1, Morris Edelman2, Joshua Lilly3, John E. Fantasia4, Aaron E. Yancoskie3
1Department of Pathology, Westchester Medical Center at New York Medical College, Valhalla, USA
2Division of Anatomical Pathology, Cytopathology, Pediatric Pathology, Cohen Children’s Medical Center, Hofstra-Northwell School of Medicine, New Hyde Park, USA
3Touro College of Dental Medicine at New York Medical College, Hawthorne, USA
4Department of Dental Medicine, Hofstra North Shore-Long Island Jewish Health System, New Hyde Park, USA

Tóm tắt

Cranial fasciitis (CF) is an uncommon benign myofibroblastic proliferation involving the soft and hard tissues of the cranium. It typically occurs in the pediatric population with a male predilection (male-to-female ratio 1.5:1). The clinical presentation is usually a rapidly expanding, painless nodule. Bone erosion may be appreciated radiographically. Histopathologic sections of CF show plump, fibroblast-like cells with pale, oval shaped nuclei and prominent nucleoli in a fibrous or myxoid background. Growth is self-limited and surgical excision is considered curative. Due to these features, CF is thought to be a variant of nodular fasciitis (NF). As with NF, CF may mimic a sarcomatous process and pose a diagnostic challenge to clinicians and pathologists alike. Erickson-Johnson et al. identified rearrangements of the ubiquitin-specific protease 6 (USP6) gene in 44 of 48 cases of NF. MYH9 was the fusion partner in 12 of these cases. To date, the molecular profile of CF has not been studied. Here we present the molecular findings in three cases of CF identified at our institution. Each case was subjected to fluorescence in-situ hybridization with appropriate negative controls. Two of three cases were positive for the USP6 gene rearrangement. The third case failed to hybridize, likely related to nucleic acid damage secondary to decalcification. Negative controls did not demonstrate the genetic rearrangement. These findings warrant further investigation of the USP6 gene rearrangement in CF, as it may prove helpful as a diagnostic adjunct in challenging cases.

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Tài liệu tham khảo

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