Agaimy A, Haller F, Hartmann A
Institut für Pathologie, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Krankenhausstraße 8-10, 91054, Erlangen, Deutschland.
Pathologe. 2018 Feb;39(1):18-26. doi: 10.1007/s00292-018-0415-0.
The last two decades have seen significant advances in the pathology of sinonasal tract neoplasms. This was the consequence of the availability of several innovative diagnostic tools, which resulted in a dynamic evolution of entities and splitting of newly defined or conceptualized entities and subtypes that have been included in the spectrum of old heterogeneous diseases. Most of these new tumor subtypes have distinctive demographic, clinicopathologic, and biological characteristics with prognostic and therapeutic implications for individual patients. NUT carcinoma (NUT midline carcinoma) was separated from the spectrum of sinonasal undifferentiated carcinoma (SNUC) and is defined by specific recurrent translocation. On the other hand, the recently described SMARCB1-deficient carcinoma (while probably representing a distinctive clinicopathologic entity) remained as a variant in the SNUC spectrum. A new neoplasm in the spectrum of non-keratinizing carcinomas is the human papillomavirus(HPV)-related adenoid-cystic-like sinonasal carcinoma with its distinctive, albeit diverse, morphology. In the group of small round-cell malignancies, adamantinoma-like Ewing sarcoma has been delineated as an important diagnostic pitfall given its prominent epithelial differentiation. Inclusion of the biphenotypic (myoneural) sinonasal sarcoma (BSS) as a low-grade malignancy defined by recurrent PAX3/MAML3-translocation represents an important feature of the new WHO classification given the distinctive biological behavior of this low-grade non-metastasizing rare entity, which has been uniformly misclassified as a peripheral nerve sheath tumor or leiomyosarcoma in the past. Recognition of CTNNB1 mutations and STAT6/NAB2 gene fusions as defining genetic markers for sinonasal hemangio‑/glomangiopericytoma and solitary fibrous tumors, respectively, represents another important achievement in recent years. This review summarizes the new aspects in the WHO classification and also addresses recently described entities that have not been included in the WHO classification.
在过去二十年中，鼻窦肿瘤病理学取得了重大进展。这得益于多种创新诊断工具的出现，这些工具推动了疾病实体的动态演变，以及新定义或概念化实体和亚型的细分，这些新实体和亚型已被纳入旧的异质性疾病范畴。这些新肿瘤亚型大多具有独特的人口统计学、临床病理和生物学特征，对个体患者的预后和治疗具有重要意义。NUT癌（NUT中线癌）已从鼻窦未分化癌（SNUC）范畴中分离出来，并通过特定的复发性易位来定义。另一方面，最近描述的SMARCB1缺陷癌（虽然可能代表一种独特的临床病理实体）仍作为SNUC范畴中的一个变体。非角化性癌范畴中的一种新肿瘤是与人乳头瘤病毒（HPV）相关的腺样囊性样鼻窦癌，其形态独特，尽管多样。在小圆细胞恶性肿瘤组中，鉴于其显著的上皮分化，釉质瘤样尤因肉瘤已被确定为一个重要的诊断陷阱。将双表型（肌神经）鼻窦肉瘤（BSS）作为一种由复发性PAX3/MAML3易位定义的低级别恶性肿瘤纳入其中，是世界卫生组织（WHO）新分类的一个重要特征，因为这种低级别、不转移的罕见实体具有独特的生物学行为，过去一直被错误分类为周围神经鞘瘤或平滑肌肉瘤。认识到CTNNB1突变和STAT6/NAB2基因融合分别是鼻窦血管外皮瘤/血管球周细胞瘤和孤立性纤维瘤的定义性遗传标志物，是近年来的另一项重要成果。本综述总结了WHO分类中的新内容，并讨论了最近描述但未被纳入WHO分类的实体。
