Brewczyński Adam, Kolasińska-Ćwikła Agnieszka, Jabłońska Beata, Wyrwicz Lucjan
Oncology and Radiotherapy Department, Maria Skłodowska-Curie National Research Institute of Oncology, 02-034 Warsaw, Poland.
Department of Digestive Tract Surgery, Medical University of Silesia, 40-752 Katowice, Poland.
Cancers (Basel). 2025 Mar 19;17(6):1029. doi: 10.3390/cancers17061029.
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）是罕见的神经内分泌性高血管肿瘤，起源于副神经节系统的不同部位。它们分为交感神经型（包括嗜铬细胞瘤和肾上腺外副神经节瘤）和副交感神经型肾上腺外肿瘤。这些肿瘤通常为良性，生长缓慢；其中约90%位于肾上腺副神经节（嗜铬细胞瘤）。肾上腺外肿瘤最常见于腹腔（85%），其次是胸腔（12%）和头颈部（3%）。约25%的PPGLs与种系突变有关，种系突变是多灶性和转移性疾病的危险因素。在PPGL的诊断中，会采用实验室、生化及影像学（解剖学和功能性）检查。手术是局限性疾病的标准治疗选择。对于不适合手术且肿瘤稳定、无生长或生长缓慢的患者，可考虑进行积极观察或采用其他侵入性较小的技术（如立体定向手术、低分割立体定向放疗）。对于转移性疾病，会采用全身治疗（酪氨酸激酶抑制剂 [TKIs]、mTORC1抑制剂依维莫司、免疫治疗、冷生长抑素类似物 [生物治疗] 以及放射性配体治疗）。PPGLs的预后相当良好，5年生存率>90%。本文的目的是综述关于PPGL患者的病因发病机制、当前诊断方法及治疗的知识。我们的论文特别关注PPGLs的当前管理。
