Department of Life Sciences and Public Health, Section of Anatomic Pathology, Università Cattolica del Sacro Cuore, Rome, Italy.
Department of Woman and Child Health Sciences and Public Health, Anatomic Pathology Unit, Fondazione Policlinico Universitario A. Gemelli - IRCCS, Largo A. Gemelli, 8, 00168, Rome, Italy.
Endocr Pathol. 2022 Mar;33(1):115-154. doi: 10.1007/s12022-022-09708-2. Epub 2022 Mar 16.
In this review, we detail the changes and the relevant features that are applied to neuroendocrine neoplasms (NENs) in the 2022 WHO Classification of Endocrine and Neuroendocrine Tumors. Using a question-and-answer approach, we discuss the consolidation of the nomenclature that distinguishes neuronal paragangliomas from epithelial neoplasms, which are divided into well-differentiated neuroendocrine tumors (NETs) and poorly differentiated neuroendocrine carcinomas (NECs). The criteria for these distinctions based on differentiation are outlined. NETs are generally (but not always) graded as G1, G2, and G3 based on proliferation, whereas NECs are by definition high grade; the importance of Ki67 as a tool for classification and grading is emphasized. The clinical relevance of proper classification is explained, and the importance of hormonal function is examined, including eutopic and ectopic hormone production. The tools available to pathologists for accurate classification include the conventional biomarkers of neuroendocrine lineage and differentiation, INSM1, synaptophysin, chromogranins, and somatostatin receptors (SSTRs), but also include transcription factors that can identify the site of origin of a metastatic lesion of unknown primary site, as well as hormones, enzymes, and keratins that play a role in functional and structural correlation. The recognition of highly proliferative, well-differentiated NETs has resulted in the need for biomarkers that can distinguish these G3 NETs from NECs, including stains to determine expression of SSTRs and those that can indicate the unique molecular pathogenetic alterations that underlie the distinction, for example, global loss of RB and aberrant p53 in pancreatic NECs compared with loss of ATRX, DAXX, and menin in pancreatic NETs. Other differential diagnoses are discussed with recommendations for biomarkers that can assist in correct classification, including the distinctions between epithelial and non-epithelial NENs that have allowed reclassification of epithelial NETs in the spine, in the duodenum, and in the middle ear; the first two may be composite tumors with neuronal and glial elements, and as this feature is integral to the duodenal lesion, it is now classified as composite gangliocytoma/neuroma and neuroendocrine tumor (CoGNET). The many other aspects of differential diagnosis are detailed with recommendations for biomarkers that can distinguish NENs from non-neuroendocrine lesions that can mimic their morphology. The concepts of mixed neuroendocrine and non-neuroendocrine (MiNEN) and amphicrine tumors are clarified with information about how to approach such lesions in routine practice. Theranostic biomarkers that assist patient management are reviewed. Given the significant proportion of NENs that are associated with germline mutations that predispose to this disease, we explain the role of the pathologist in identifying precursor lesions and applying molecular immunohistochemistry to guide genetic testing.
在这篇综述中,我们详细介绍了 2022 年世界卫生组织内分泌和神经内分泌肿瘤分类中对神经内分泌肿瘤(NENs)的更改和相关特征。我们采用问答的方式,讨论了区分神经元副神经节瘤和上皮性肿瘤的命名法的整合,这些肿瘤分为分化良好的神经内分泌肿瘤(NETs)和分化差的神经内分泌癌(NECs)。概述了基于分化的这些区别标准。NET 通常(但并非总是)根据增殖情况分级为 G1、G2 和 G3,而 NEC 则定义为高级别;强调 Ki67 作为分类和分级工具的重要性。解释了正确分类的临床相关性,并检查了激素功能的重要性,包括内位和异位激素产生。为了进行准确的分类,病理学家可使用神经内分泌谱系和分化的常规生物标志物,如 INSM1、突触素、嗜铬粒蛋白和生长抑素受体(SSTRs),还包括可以识别未知原发部位转移灶起源的转录因子,以及在功能和结构相关性中起作用的激素、酶和角蛋白。高度增殖的分化良好的 NET 的认识导致需要能够区分这些 G3 NET 和 NEC 的生物标志物,包括确定 SSTR 表达的染色剂,以及可以指示潜在分子发病机制改变的染色剂,例如与胰腺 NEC 相比,胰腺 NET 中普遍存在 RB 缺失和异常 p53,而在胰腺 NET 中存在 ATRX、DAXX 和 menin 缺失。还讨论了其他鉴别诊断,并为正确分类推荐了可以辅助的生物标志物,包括上皮和非上皮性 NEN 的区分,这允许重新分类脊柱、十二指肠和中耳的上皮 NET;前两者可能是具有神经元和神经胶质成分的复合肿瘤,由于该特征是十二指肠病变的组成部分,因此现在被归类为复合神经节细胞瘤/神经瘤和神经内分泌肿瘤(CoGNET)。详细介绍了其他许多鉴别诊断方面,并推荐了可以将 NEN 与模仿其形态的非神经内分泌病变区分开来的生物标志物。澄清了混合神经内分泌和非神经内分泌(MiNEN)和两性肿瘤的概念,并介绍了在常规实践中处理此类病变的方法。审查了有助于患者管理的治疗生物标志物。鉴于相当一部分 NEN 与导致这种疾病的种系突变有关,我们解释了病理学家在识别前体病变和应用分子免疫组织化学指导基因检测方面的作用。