Nockel Pavel, El Lakis Mustapha, Gaitanidis Apostolos, Yang Lily, Merkel Roxanne, Patel Dhaval, Nilubol Naris, Prodanov Tamara, Pacak Karel, Kebebew Electron
Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.
Surgery. 2018 Jan;163(1):191-196. doi: 10.1016/j.surg.2017.05.025. Epub 2017 Nov 7.
Our knowledge of the susceptibility genes for pheochromocytomas/paragangliomas has increased; however, data on its impact on surgical decision-making has not been described. The aim of this study was to determine the effect of routine preoperative genetic testing on the operative intervention in patients with pheochromocytomas/paragangliomas.
One-hundred-eight patients diagnosed with pheochromocytomas/paragangliomas who underwent 118 operations had preoperative genetic testing for 9 known pheochromocytoma/paraganglioma susceptibility genes. A retrospective analysis of a prospective database was performed to evaluate clinical factors associated with the surgical approach selected and the outcome of the surgical intervention.
In 51 patients (47%), a germline mutation was detected and one-third had no family history of pheochromocytoma/paraganglioma. In 77 operations (65%), it was the first operative intervention for the disease site (60 laparoscopic, 17 open), and 41 (35%) were reoperative interventions (36 open, 5 laparoscopic). For initial operations, variables associated with whether an open or laparoscopic approach was used were tumor size (P = .009) and presence of germline mutation (P = .042). Sixty-eight adrenal operations were performed (54 total, 14 cortical-sparing). Variables significantly associated with a cortical-sparing adrenalectomy being performed were the presence of germline mutation (P = .006) and tumor size (P = .013).
Preoperative knowledge of the germline mutation status affects the surgical approach and extent of adrenalectomy.
我们对嗜铬细胞瘤/副神经节瘤易感基因的认识有所增加；然而，关于其对手术决策影响的数据尚未见报道。本研究的目的是确定常规术前基因检测对嗜铬细胞瘤/副神经节瘤患者手术干预的影响。
108例诊断为嗜铬细胞瘤/副神经节瘤并接受了118次手术的患者，对9个已知的嗜铬细胞瘤/副神经节瘤易感基因进行了术前基因检测。对前瞻性数据库进行回顾性分析，以评估与所选手术方式及手术干预结果相关的临床因素。
51例患者（47%）检测到胚系突变，其中三分之一无嗜铬细胞瘤/副神经节瘤家族史。77次手术（65%）是对病变部位的首次手术干预（60例腹腔镜手术，17例开放手术），41次（35%）是再次手术干预（36例开放手术，5例腹腔镜手术）。对于初次手术，与采用开放或腹腔镜手术方式相关的变量为肿瘤大小（P = 0.009）和胚系突变的存在（P = 0.042）。共进行了68例肾上腺手术（54例全切，其中14例保留肾上腺皮质）。与进行保留肾上腺皮质切除术显著相关的变量是胚系突变的存在（P = 0.006）和肿瘤大小（P = 0.013）。
术前了解胚系突变状态会影响手术方式及肾上腺切除术的范围。
