嗜铬细胞瘤/副神经节瘤：遗传学、生物化学、免疫组织化学、代谢组学、影像学及治疗选择的最新进展
Pheochromocytoma/paraganglioma: recent updates in genetics, biochemistry, immunohistochemistry, metabolomics, imaging and therapeutic options.
作者信息
Antonio Karren, Valdez Ma Margarita Noreen, Mercado-Asis Leilani, Taïeb David, Pacak Karel
机构信息
Section on Medical Neuroendocrinology, The Eunice Kennedy Shriver National Institutes of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Division of Endocrinology, University of Santo Tomas Hospital, Manila, Philippines.
出版信息
Gland Surg. 2020 Feb;9(1):105-123. doi: 10.21037/gs.2019.10.25.
Pheochromocytomas and paragangliomas (PPGLs), rare chromaffin/neural crest cell tumors, are commonly benign in their clinical presentation. However, there are a number of cases presenting as metastatic and their diagnosis and management becomes a dilemma because of their rarity. PPGLs are constantly evolving entities in the field of endocrinology brought about by endless research and discoveries, especially in genetics. Throughout the years, our knowledge and perception of these tumors and their genetic background has greatly expanded and changed, and each new discovery leads to advancement in the diagnosis, treatment and follow-up of PPGLs. In this review, we discuss the recent updates in the genetics, biochemistry, immunohistochemistry, metabolomics, imaging and treatment options of PPGLs.
嗜铬细胞瘤和副神经节瘤（PPGLs）是罕见的嗜铬/神经嵴细胞瘤，临床表现通常为良性。然而，有许多病例表现为转移性，由于其罕见性，其诊断和治疗成为一个难题。PPGLs是内分泌学领域不断演变的实体，这是由无尽的研究和发现带来的，尤其是在遗传学方面。多年来，我们对这些肿瘤及其遗传背景的认识和理解有了极大的扩展和改变，每一项新发现都推动了PPGLs诊断、治疗和随访的进步。在本综述中，我们讨论了PPGLs在遗传学、生物化学、免疫组织化学、代谢组学、影像学和治疗选择方面的最新进展。
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