Cancer Diagnosis and Pathology Group, Kolling Institute of Medical Research, St Leonards, NSW, 2065, Australia.
NSW Health Pathology, Department of Anatomical Pathology, Royal North Shore Hospital, Sydney, NSW, 2065, Australia.
Endocr Pathol. 2018 Jun;29(2):169-175. doi: 10.1007/s12022-018-9534-7.
The evolution of genetic research over the past two decades has greatly improved the understanding of pheochromocytomas and paragangliomas. It is now accepted that more than one third of pheochromocytoma and paragangliomas arise in the context of syndromic disease, usually hereditary. The genetic profile of these tumors also has important prognostic implications which may help guide treatment. Accompanying the changing molecular landscape is the development of new immunohistochemical markers. Initially used in assisting with diagnosis, immunohistochemical markers have now become an important adjunct to screening programs for inherited conditions and subsequently as prognostic markers. The accessibility and efficiency of immunohistochemistry bring pathologists to the forefront in triaging patients based on tumor genotype-phenotype. In this review, we provide an update on the role of immunohistochemistry in the diagnosis of pheochromocytomas and paragangliomas, as an adjunct to assessment for hereditary disease and finally as a potential tool to assist risk stratification.
过去二十年来,遗传研究的发展极大地提高了人们对嗜铬细胞瘤和副神经节瘤的认识。现在人们已经接受,三分之一以上的嗜铬细胞瘤和副神经节瘤是在综合征疾病的背景下发生的,通常是遗传性的。这些肿瘤的遗传特征也具有重要的预后意义,可能有助于指导治疗。伴随分子景观的变化,出现了新的免疫组织化学标志物。免疫组织化学标志物最初用于辅助诊断,现在已成为遗传性疾病筛查计划的重要辅助手段,随后也成为预后标志物。免疫组织化学的可及性和效率使病理学家能够根据肿瘤基因型-表型对患者进行分诊。在这篇综述中,我们提供了免疫组织化学在嗜铬细胞瘤和副神经节瘤诊断中的作用的最新信息,作为评估遗传性疾病的辅助手段,最后还可以作为一种潜在的风险分层辅助工具。