TY - JOUR
T1 - NAB2::STAT6 Rearranged Carcinoma of the Parotid Gland with Sebaceous Differentiation
T2 - A Case Report
AU - de Ruiter, Emma J
AU - Rijken, Johannes A
AU - Doeleman, Thom
AU - Kester, Lennart A
AU - Pameijer, Frank A
AU - Raicu, Mihaela G
AU - Breimer, Gerben E
N1 - Publisher Copyright:
© The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2024.
PY - 2025/1/13
Y1 - 2025/1/13
N2 - PURPOSE: The NAB2::STAT6 fusion is predominantly associated with solitary fibrous tumors (SFTs) and is utilized in diagnosing SFTs through nuclear STAT6 protein overexpression. Recent studies expanded the phenotypic spectrum of NAB2::STAT6 rearranged neoplasms, including adamantinoma-like and teratocarcinosarcoma-like phenotypes. We report a case of a NAB2::STAT6 rearranged epithelial tumor exhibiting sebaceous differentiation in the parotid gland.METHODS: Fine-needle aspiration (FNA), histopathology, immunohistochemistry, and molecular studies of this case were described.RESULTS: Fine-needle aspiration (FNA) revealed atypical basaloid cells, suggesting primary salivary gland carcinoma or metastasis. Histological examination showed basaloid-squamous cells with a monomorphic appearance containing foci of sebaceous differentiation, expressing pancytokeratin, p40, and androgen receptor, while CD34 staining was negative. Molecular studies identified a NAB2::STAT6 fusion, along with an AKT1 mutation.CONCLUSION: This case further expands the phenotypic spectrum of NAB2::STAT6 rearranged neoplasms and emphasizes comprehensive histopathological and molecular analysis in challenging head and neck tumors. It suggests STAT6 immunohistochemistry as a potential screening tool for head and neck tumors resembling sebaceous carcinoma, myoepithelial tumors, or GLI1-altered neoplasms.
AB - PURPOSE: The NAB2::STAT6 fusion is predominantly associated with solitary fibrous tumors (SFTs) and is utilized in diagnosing SFTs through nuclear STAT6 protein overexpression. Recent studies expanded the phenotypic spectrum of NAB2::STAT6 rearranged neoplasms, including adamantinoma-like and teratocarcinosarcoma-like phenotypes. We report a case of a NAB2::STAT6 rearranged epithelial tumor exhibiting sebaceous differentiation in the parotid gland.METHODS: Fine-needle aspiration (FNA), histopathology, immunohistochemistry, and molecular studies of this case were described.RESULTS: Fine-needle aspiration (FNA) revealed atypical basaloid cells, suggesting primary salivary gland carcinoma or metastasis. Histological examination showed basaloid-squamous cells with a monomorphic appearance containing foci of sebaceous differentiation, expressing pancytokeratin, p40, and androgen receptor, while CD34 staining was negative. Molecular studies identified a NAB2::STAT6 fusion, along with an AKT1 mutation.CONCLUSION: This case further expands the phenotypic spectrum of NAB2::STAT6 rearranged neoplasms and emphasizes comprehensive histopathological and molecular analysis in challenging head and neck tumors. It suggests STAT6 immunohistochemistry as a potential screening tool for head and neck tumors resembling sebaceous carcinoma, myoepithelial tumors, or GLI1-altered neoplasms.
KW - Biomarkers, Tumor/analysis
KW - Carcinoma/pathology
KW - Female
KW - Gene Rearrangement
KW - Humans
KW - Male
KW - Middle Aged
KW - Parotid Neoplasms/pathology
KW - Repressor Proteins/genetics
KW - STAT6 Transcription Factor/genetics
UR - http://www.scopus.com/inward/record.url?scp=85215354146&partnerID=8YFLogxK
U2 - 10.1007/s12105-024-01733-3
DO - 10.1007/s12105-024-01733-3
M3 - Article
C2 - 39804544
SN - 1936-055X
VL - 19
JO - Head and neck pathology
JF - Head and neck pathology
IS - 1
M1 - 9
ER -