Christakis Ioannis, Qiu Wei, Hyde Samuel M, Cote Gilbert J, Grubbs Elizabeth G, Perrier Nancy D, Lee Jeffrey E
Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX.
Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX; Department of Hepatobiliary Pancreatic Surgery, The First Hospital of Jilin University, Changchun, Jilin, China.
Surgery. 2018 Jan;163(1):212-217. doi: 10.1016/j.surg.2017.04.044. Epub 2017 Nov 6.
The aim of this study was to investigate the genotype-phenotype relationship of pancreatic neuroendocrine tumors in patients with multiple endocrine neoplasia type 1 treated at our institution.
We conducted a retrospective chart review of all patients with multiple endocrine neoplasia type 1 treated at our center from January 1993 to December 2015. Presence of a pancreatic neuroendocrine tumor was determined based on imaging performed at any time from presentation to conclusion of follow-up.
We reviewed 188 patients. The most common site of multiple endocrine neoplasia type 1 mutation was in exon 2 (34/188; 18%). Of 188 patients, 125 had a pancreatic neuroendocrine tumor (61%). Among all patients, 30 of 34 (88%) with an exon 2 mutation had a pancreatic neuroendocrine tumor compared with 95 of 154 (62%) with a mutation in exons 3-10 (P = .002). In the age group of 20 to 40 years, 8 of 9 patients with an exon 2 mutation had a pancreatic neuroendocrine tumor, compared with 24 of 52 patients (46%) with a mutation in exons 3-10 (P = .028). Patients with an exon 2 mutation had a greater frequency of pancreatic neuroendocrine tumor distant metastasis (53% vs 23%, P = .049).
Young patients with multiple endocrine neoplasia type 1 and an exon 2 mutation appear to have a 2-fold greater risk for developing a pancreatic neuroendocrine tumor, and patients with an exon 2 mutation may be at greater risk for developing distant metastasis. Consideration should be given to more intensive screening and more liberal application of primary operative intervention in this potentially high-risk group.
本研究旨在调查在我院接受治疗的1型多发性内分泌腺瘤病患者中胰腺神经内分泌肿瘤的基因型与表型的关系。
我们对1993年1月至2015年12月在我院中心接受治疗的所有1型多发性内分泌腺瘤病患者进行了回顾性病历审查。根据从就诊到随访结束期间任何时间进行的影像学检查确定是否存在胰腺神经内分泌肿瘤。
我们审查了188例患者。1型多发性内分泌腺瘤病最常见的突变位点在外显子2（34/188；18%）。在188例患者中，125例有胰腺神经内分泌肿瘤（61%）。在所有患者中，34例中有30例（88%）外显子2突变患者有胰腺神经内分泌肿瘤，而外显子3 - 10突变的154例中有95例（62%）有胰腺神经内分泌肿瘤（P = 0.002）。在20至40岁年龄组中，9例外显子2突变患者中有8例有胰腺神经内分泌肿瘤，而52例外显子3 - 10突变患者中有24例（46%）有胰腺神经内分泌肿瘤（P = 0.028）。外显子2突变患者胰腺神经内分泌肿瘤远处转移的频率更高（53%对23%，P = 0.049）。
1型多发性内分泌腺瘤病且外显子2突变的年轻患者发生胰腺神经内分泌肿瘤的风险似乎高出2倍，且外显子2突变患者发生远处转移的风险可能更高。对于这个潜在的高危人群，应考虑进行更密集的筛查和更广泛地应用初次手术干预。
