TY - JOUR
T1 - Nodular Fasciitis of the Buccal Mucosa with a Novel USP6 Gene Rearrangement
T2 - A Case Report and Review of the Literature
AU - Vuong, Mallissa
AU - Mejbel, Haider A.
AU - Mackinnon, Alexander C.
AU - Roden, Dylan
AU - Suster, David I.
N1 - Publisher Copyright:
© The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2024.
PY - 2024/12
Y1 - 2024/12
N2 - Nodular fasciitis is a rare but benign fibroblastic proliferation that typically presents as a solitary lesion with rapid growth and variable mitotic activity. The lesions usually occur on the extremities and occasionally in the head/neck region. Involvement of the buccal mucosa is extremely rare with only few reports in the literature; in this case report, we describe a 41 year old female who presented with a 6-month history of a stable intraoral lump at the junction of the upper and lower lip. Fine needle aspiration revealed an atypical spindle cell population with plump cells. The surgical excision demonstrated a well circumscribed tan-white firm nodule. Histologic examination revealed a spindle cell proliferation that grew in short, intersecting fascicles with focal storiform architecture. The lesion had a pushing border that was not overtly infiltrative and the stroma contained focal myxoid changes giving a “tissue culture” appearance to the cells. Immunohistochemical testing showed the tumor cells were vimentin (+), SMA (+), weakly Calponin (+), and desmin (-), cytokeratin (-), AE1/AE3 (-), S100 (-), ALK (-), STAT6 (-), and beta-catenin (-). Fluorescence in-situ hybridization (FISH) revealed a USP6 gene rearrangement with an atypical probe pattern. Next generation sequencing identified a novel SPTAN1::USP6 fusion gene confirming the diagnosis of buccal nodular fasciitis. Identification of the characteristic histologic features and USP6 gene rearrangements helped support the diagnosis. A review of the literature identified 25 cases of nodular fasciitis involving the buccal mucosa. The occurrence of this tumor in an unusual location may pose difficulties for diagnosis.
AB - Nodular fasciitis is a rare but benign fibroblastic proliferation that typically presents as a solitary lesion with rapid growth and variable mitotic activity. The lesions usually occur on the extremities and occasionally in the head/neck region. Involvement of the buccal mucosa is extremely rare with only few reports in the literature; in this case report, we describe a 41 year old female who presented with a 6-month history of a stable intraoral lump at the junction of the upper and lower lip. Fine needle aspiration revealed an atypical spindle cell population with plump cells. The surgical excision demonstrated a well circumscribed tan-white firm nodule. Histologic examination revealed a spindle cell proliferation that grew in short, intersecting fascicles with focal storiform architecture. The lesion had a pushing border that was not overtly infiltrative and the stroma contained focal myxoid changes giving a “tissue culture” appearance to the cells. Immunohistochemical testing showed the tumor cells were vimentin (+), SMA (+), weakly Calponin (+), and desmin (-), cytokeratin (-), AE1/AE3 (-), S100 (-), ALK (-), STAT6 (-), and beta-catenin (-). Fluorescence in-situ hybridization (FISH) revealed a USP6 gene rearrangement with an atypical probe pattern. Next generation sequencing identified a novel SPTAN1::USP6 fusion gene confirming the diagnosis of buccal nodular fasciitis. Identification of the characteristic histologic features and USP6 gene rearrangements helped support the diagnosis. A review of the literature identified 25 cases of nodular fasciitis involving the buccal mucosa. The occurrence of this tumor in an unusual location may pose difficulties for diagnosis.
KW - Myofibroblastic
KW - Next generation sequencing
KW - Nodular fasciitis
KW - Oral cavity
KW - USP6
UR - http://www.scopus.com/inward/record.url?scp=85201671449&partnerID=8YFLogxK
U2 - 10.1007/s12105-024-01687-6
DO - 10.1007/s12105-024-01687-6
M3 - Article
C2 - 39167308
AN - SCOPUS:85201671449
SN - 1936-055X
VL - 18
JO - Head and Neck Pathology
JF - Head and Neck Pathology
IS - 1
M1 - 79
ER -