de Ruiter Emma J, Rijken Johannes A, Doeleman Thom, Kester Lennart A, Pameijer Frank A, Raicu Mihaela G, Breimer Gerben E
Department of Pathology, University Medical Center Utrecht, Utrecht, 3508 GA, The Netherlands.
Department of Head and Neck Surgical Oncology, University Medical Center Utrecht, Utrecht, The Netherlands.
Head Neck Pathol. 2025 Jan 13;19(1):9. doi: 10.1007/s12105-024-01733-3.
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.
Fine-needle aspiration (FNA), histopathology, immunohistochemistry, and molecular studies of this case were described.
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.
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.
NAB2::STAT6融合主要与孤立性纤维性肿瘤(SFT)相关,可通过核STAT6蛋白过表达用于诊断SFT。最近的研究扩展了NAB2::STAT6重排肿瘤的表型谱,包括造釉细胞瘤样和畸胎癌肉瘤样表型。我们报告一例在腮腺中表现出皮脂腺分化的NAB2::STAT6重排上皮性肿瘤。
描述了该病例的细针穿刺活检(FNA)、组织病理学、免疫组织化学和分子研究。
细针穿刺活检(FNA)显示非典型基底样细胞,提示原发性涎腺癌或转移瘤。组织学检查显示基底样鳞状细胞呈单形外观,含有皮脂腺分化灶,表达全细胞角蛋白、p40和雄激素受体,而CD34染色为阴性。分子研究鉴定出NAB2::STAT6融合以及AKT1突变。
该病例进一步扩展了NAB2::STAT6重排肿瘤的表型谱,并强调了在具有挑战性的头颈部肿瘤中进行全面的组织病理学和分子分析。这表明STAT6免疫组织化学可作为一种潜在的筛查工具,用于诊断类似皮脂腺癌、肌上皮肿瘤或GLI1改变的肿瘤的头颈部肿瘤。