转移性嗜铬细胞瘤/副神经节瘤的临床特征分析

Analysis of clinical features of metastatic pheochromocytoma/paraganglioma

目的探讨转移性嗜铬细胞瘤/副神经节瘤(PPCL)患者的临床特征。方法回顾性分析2016年1月至2022年6月于北京协和医院诊治的57例转移性PPCL患者的临床资料。其中嗜铬细胞瘤(PCC)28例,副神经节瘤(PCL)29例。分析转移性PCC和PGL患者的临床表现、生化指标、肿瘤特点、转移特点等。结果57例中男34例,女23例;初诊时中位年龄为34(20,54)岁,17例(29.3%)为同时性转移,40例(70.7%)为异时性转移。初诊至出现转移的中位时间为2.2(0,5.0)年(范围0~22年)。初诊时45例(78.6%)出现肾上腺素能症状,原发肿瘤中位长径为6.7(5.0,9.0)cm;48例(81.4%)存在过量儿茶酚胺分泌。最常见的转移位置依次为淋巴结(71.9%,41/57)、骨(47.3%27/57)、肺(38.6%,20/57)、肝(35.1%,20/57)。转移性PGL较转移性PCC多灶性转移比例更高[10例(34.5%)与2例(7.1%),P=0.011],SDHB突变比例更高[13例(42.9%)与3例(10.7%),P=0.008],更易出现同时性转移[12例(41.3%)与5例(17.9%),P=0.005],但转移性PCC较转移性PGL的原发肿瘤长径更大[中位长径8.9(4.0,17.0)cm与6.1(1.0,15.8)cm,P=0.020]。结论PPGL患者出现转移的时间跨度极大,对于诊断为PPCL的患者应该终身随访。PGL较PCC更易出现多灶性转移和同时性转移,PGL与SDHB突变相关性更高。

Objective To explore the clinical data of patients with metastatic pheochromocytoma/paraganglioma(PPGL).Methods The clinical data of 57 patients with metastatic pheochromocytoma/paraganglioma diagnosed and treated at Peking Union Medical College Hospital from January 2016 to June 2022 were reviewed,including 28 cases of pheochromocytoma(PCC)and 29 cases of paraganglioma(PCL).The clinical manifestations,biochemical indexes,tumour characteristics,and metastatic characteristics of the 57 patients were analysed.Results There were 34 males and 23 females.The median age at the time of initial diagnosis was 34(20,54)years,17(29.3%)presented with concurrent metastases,and 40(70.7%)with heterochronous metastases.The median time to presentation of metastases was 2.2(0,5.0)years(range 0-22 years).Adrenergic symptoms were present in 45 cases(78.6%)at the time of initial diagnosis,and the median size of the primary tumour was 6.7(5.0,9.0)cm.Excessive catecholamine secretion was present in 48 cases(81.4%).The most common locations of metastasis were lymph nodes(71.9%,41/57),bone(47.3%,27/57),lung(38.6%,20/57),and liver(35.1%,20/57).Metastatic PCL had more multifocal metastases than PCC[10(34.5%)vs.2(7.1%),P=0.011],was more frequently associated with SDHB mutations[13(42.9%)vs.3(10.7%),P=0.008],and was more likely to have concurrent metastases[12(41.3%)vs.5(17.9%),P=0.005].Metastatic PCC primary tumours were larger compared to PCL[median length 8.9(4.0,17.0)cm vs.6.1(1.0,15.8)cm,P=0.020].Conclusions Patients with PGL present with metastases over an extremely wide time span,and patients diagnosed with PPCL should be followed throughout their lives.PGL is more prone to multifocal metastases and simultaneous metastases than PCC,and PCL is more highly correlated with the SDHB mutation.