Department of Hematology, Oncology and Internal Medicine, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Department of Radiology and Nuclear Medicine, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Cancer Med. 2023 Jul;12(13):13942-13957. doi: 10.1002/cam4.6010. Epub 2023 May 5.
Pheochromocytomas (PCCs) are rare neuroendocrine tumors derived from the chromaffin cells of the adrenal medulla. When these tumors have an extra-adrenal location, they are called paragangliomas (PGLs) and arise from sympathetic and parasympathetic ganglia, particularly of the para-aortic location. Up to 25% of PCCs/PGLs are associated with inherited genetic disorders. The majority of PCCs/PGLs exhibit indolent behavior. However, according to their affiliation to molecular clusters based on underlying genetic aberrations, their tumorigenesis, location, clinical symptomatology, and potential to metastasize are heterogenous. Thus, PCCs/PGLs are often associated with diagnostic difficulties. In recent years, extensive research revealed a broad genetic background and multiple signaling pathways leading to tumor development. Along with this, the diagnostic and therapeutic options were also expanded. In this review, we focus on the current knowledge and recent advancements in the diagnosis and treatment of PCCs/PGLs with respect to the underlying gene alterations while also discussing future perspectives in this field.
嗜铬细胞瘤（pheochromocytomas，PCCs）是源自肾上腺髓质嗜铬细胞的罕见神经内分泌肿瘤。当这些肿瘤位于肾上腺外时，它们被称为副神经节瘤（paragangliomas，PGLs），起源于交感和副交感神经节，特别是腹主动脉旁位置。多达 25%的 PCCs/PGLs 与遗传性遗传疾病有关。大多数 PCCs/PGLs 表现为惰性行为。然而，根据其基于潜在遗传异常的分子聚类归属，它们的肿瘤发生、位置、临床症状和转移潜力是异质的。因此，PCCs/PGLs 通常与诊断困难有关。近年来，广泛的研究揭示了广泛的遗传背景和多种信号通路导致肿瘤的发展。与此同时，诊断和治疗选择也得到了扩展。在这篇综述中，我们关注了 PCCs/PGLs 基于潜在基因改变的诊断和治疗的最新知识和进展，同时也讨论了该领域的未来展望。
