Bracigliano Alessandra, Marretta Antonella Lucia, Guerrera Luigi Pio, Simioli Roberto, Clemente Ottavia, Granata Vincenza, Minopoli Anita, Della Vittoria Scarpati Giuseppina, Picozzi Fernanda, Cannella Lucia, Pizzolorusso Antonio, Di Gennaro Francesca, Tafuto Roberto, Sarno Maria Rosaria, Cavalcanti Ernesta, Ribera Dario, Tafuto Salvatore
Nuclear Medicine Unit, Istituto Nazionale Tumori I.R.C.C.S. Fondazione "G.Pascale", 80131 Naples, Italy.
Medical Oncology Unit, Ospedale Ave Gratia Plena, San Felice A Cancello, 81027 Caserta, Italy.
Pharmaceuticals (Basel). 2024 Mar 8;17(3):354. doi: 10.3390/ph17030354.
Pheochromocytomas (PCCs) and Paragangliomas (PGLs), commonly known as PPGLs to include both entities, are rare neuroendocrine tumors that may arise in the context of hereditary syndromes or be sporadic. However, even among sporadic PPGLs, identifiable somatic alterations in at least one of the known susceptibility genes can be detected. Therefore, about 3/4 of all PPGL patients can be assigned to one of the three molecular clusters that have been identified in the last years with difference in the underlying pathogenetic mechanisms, biochemical phenotype, metastatic potential, and prognosis. While surgery represents the mainstay of treatment for localized PPGLs, several therapeutic options are available in advanced and/or metastatic setting. However, only few of them hinge upon prospective data and a cluster-oriented approach has not yet been established. In order to render management even more personalized and improve the prognosis of this molecularly complex disease, it is undoubtable that genetic testing for germline mutations as well as genome profiling for somatic mutations, where available, must be improved and become standard practice. This review summarizes the current evidence regarding diagnosis and treatment of PPGLs, supporting the need of a more cluster-specific approach in clinical practice.
嗜铬细胞瘤（PCC）和副神经节瘤（PGL），通常统称为PPGL（涵盖这两种实体），是罕见的神经内分泌肿瘤，可能发生于遗传性综合征背景下或为散发性。然而，即使在散发性PPGL中，也能检测到已知易感基因中至少一个基因存在可识别的体细胞改变。因此，约四分之三的PPGL患者可被归类到过去几年中确定的三个分子簇之一，这些分子簇在潜在致病机制、生化表型、转移潜能和预后方面存在差异。虽然手术是局限性PPGL的主要治疗方法，但在晚期和/或转移性情况下有多种治疗选择。然而，其中只有少数基于前瞻性数据，且尚未建立以簇为导向的治疗方法。为了使管理更加个性化并改善这种分子复杂性疾病的预后，毫无疑问，必须改进种系突变的基因检测以及体细胞突变的基因组分析（如可行），并使其成为标准做法。本综述总结了目前关于PPGL诊断和治疗的证据，支持在临床实践中采用更具簇特异性方法的必要性。
