Pheochromocytomas and paragangliomas (PPGLs) are infrequent neuroendocrine hypervascular neoplasms arising within different sites of the paraganglion system. They are divided into sympathetic (including pheochromocytomas and extraadrenal paragangliomas) and parasympathetic extraadrenal tumors. These tumors are usually not malignant and grow slowly; about 90% of them are found in the adrenal paraganglia (pheochromocytomas). Extraadrenal tumors are most frequently located in the abdominal cavity (85%), followed by the thoracic cavity (12%), and head and neck (3%). About 25% of PPGLs are related to germline mutations, which are risk factors for multifocal and metastatic disease. In PPGL diagnostics, laboratory, biochemical, and imaging (anatomical and functional) examinations are used. Surgery is the standard management choice for locoregional disease. For patients who are not candidates for surgery and who have stable, not-growing, or slow-growing tumors, active observation or other less invasive techniques (i.e., stereotactic surgery, hypofractionated stereotactic radiotherapy) are considered. In metastatic disease, systemic therapies (tyrosine kinase inhibitors [TKIs], mTORC1 inhibitor everolimus, immunotherapy, cold somatostatin analogs [biotherapy], and radioligand therapy) are used. The prognosis for PPGLs is quite good, and the 5-year survival rate is >90%. The goal of this paper is to review knowledge on the etiopathogenesis, current diagnostics, and therapy for PPGL patients. Our paper is particularly focused on the current management of PPGLs.
嗜铬细胞瘤和副神经节瘤（PPGLs）是起源于副神经节系统不同部位的罕见神经内分泌高血管性肿瘤。它们分为交感神经性（包括嗜铬细胞瘤和肾上腺外副神经节瘤）与副交感神经性肾上腺外肿瘤。这类肿瘤通常为非恶性且生长缓慢；约90%发生于肾上腺副神经节（即嗜铬细胞瘤）。肾上腺外肿瘤最常见于腹腔（85%），其次为胸腔（12%）和头颈部（3%）。约25%的PPGLs与种系突变相关，这是多灶性和转移性疾病的风险因素。PPGLs的诊断需结合实验室检查、生化检测及影像学（解剖与功能）检查。手术是局部区域性疾病的标准治疗方案。对于不适合手术且肿瘤稳定无增长或缓慢生长的患者，可考虑主动监测或其他微创技术（如立体定向手术、大分割立体定向放疗）。转移性疾病则采用全身性治疗（酪氨酸激酶抑制剂[TKIs]、mTORC1抑制剂依维莫司、免疫疗法、冷生长抑素类似物[生物疗法]及放射性配体治疗）。PPGLs预后良好，5年生存率超过90%。本文旨在综述PPGLs的病因发病机制、当前诊断及治疗策略，特别聚焦于该疾病的现代管理方案。
肿瘤(癌症)患者之家