Departments of Pathology.
Institute of Biomedicine, Pathology, University of Turku and Department of Pathology, Turku University Hospital, Turku, Finland.
Adv Anat Pathol. 2022 Jul 1;29(4):217-226. doi: 10.1097/PAP.0000000000000339. Epub 2022 Mar 7.
This review focuses on the heterogenous group of clear cell neoplasms of salivary glands and attempts to identify major differential diagnostic features. Within the head and neck region, clear cells are found most commonly in salivary gland tumors, but may also be seen in tumors of squamous or odontogenic epithelial origin, primary or metastatic carcinomas, benign or malignant melanocytic lesions, or benign or malignant mesenchymal tumors. Clear cells occur fairly commonly among a wide variety of salivary gland neoplasms, but mostly they constitute only a minor component of the tumor cell population. Clear cells represent a major diagnostic feature in two salivary gland neoplasms, epithelial-myoepithelial carcinoma and hyalinizing clear cell carcinoma. In addition, salivary gland neoplasms composed predominantly of clear cells could also include clear cell variants of other salivary neoplasms, such as mucoepidermoid carcinoma and myoepithelial carcinoma, but their tumor type-specific histologic features may only be available in limited nonclear cell areas of the tumor. Diagnosing predominantly clear cell salivary gland tumors is difficult because the immunoprofiles and morphologic features may overlap and the same tumor entity may also have a wide range of other histologic presentations. Many salivary gland tumors are characterized by tumor type-specific genomic alterations, particularly gene fusions of the ETV6 gene in secretory carcinoma, the MYB and MYBL1 genes in adenoid cystic carcinoma, the MAML2 gene in mucoepidermoid carcinoma, the EWSR1 gene in hyalinizing clear cell carcinoma, and others. Thus, along with conventional histopathologic examination and immunoprofiling, molecular and genetic tests may be important in the diagnosis of salivary gland clear cell tumors by demonstrating genetic alterations specific to them.
这篇综述聚焦于唾液腺的透明细胞肿瘤这一异质性肿瘤群,并试图确定主要的鉴别诊断特征。在头颈部,透明细胞最常见于唾液腺肿瘤,但也可见于鳞状或牙源性上皮来源的肿瘤、原发性或转移性癌、良性或恶性黑色素细胞病变,或良性或恶性间叶肿瘤。透明细胞在各种唾液腺肿瘤中相当常见,但大多数情况下仅构成肿瘤细胞群体的一小部分。透明细胞是两种唾液腺肿瘤——上皮-肌上皮癌和透明细胞性血管肌脂肪瘤的主要诊断特征。此外,主要由透明细胞组成的唾液腺肿瘤也可包括其他唾液腺肿瘤的透明细胞变体,如黏液表皮样癌和肌上皮癌,但这些肿瘤的特定组织学特征可能仅在肿瘤的有限非透明细胞区域中存在。诊断主要由透明细胞组成的唾液腺肿瘤具有一定难度,因为免疫表型和形态学特征可能重叠,并且同一肿瘤实体也可能具有广泛的其他组织学表现。许多唾液腺肿瘤具有肿瘤类型特异性的基因组改变,特别是分泌癌中的 ETV6 基因融合、腺样囊性癌中的 MYB 和 MYBL1 基因、黏液表皮样癌中的 MAML2 基因、透明细胞性血管肌脂肪瘤中的 EWSR1 基因等。因此,除了常规的组织病理学检查和免疫组化分析外,分子和遗传学检测可能对诊断具有特定遗传学改变的唾液腺透明细胞肿瘤具有重要意义。