USP6 Gene Rearrangement by FISH Analysis in Cranial Fasciitis: A Report of Three Cases.
Head Neck Pathol
; 14(1): 257-261, 2020 Mar.
Article
en En
| MEDLINE
| ID: mdl-30758758
ABSTRACT
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 1.51). 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.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Neoplasias Cutáneas
/
Ubiquitina Tiolesterasa
/
Miofibroma
/
Fascitis
/
Neoplasias de Cabeza y Cuello
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Child, preschool
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Head Neck Pathol
Asunto de la revista:
NEOPLASIAS
/
PATOLOGIA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Estados Unidos