恶性嗜铬细胞瘤伴颅骨转移一例报道  

A case of malignant pheochromocytoma with cranial metastasis

作　　者：贾晓蒙 陈康 姜丽娜 庞萍 王琳[4] 赵玲 胡晓东 臧丽 杜锦 谷伟军 巴建明 杨国庆 吕朝晖 窦京涛 母义明 Jia Xiaomeng;Chen Kang;Jiang Lina;Pang Ping;Wang Lin;Zhao Ling;Hu Xiaodong;Zang Li;Du Jin;Gu Weijun;Ba Jianming;Yang Guoqing;Lyu Zhaohui;Dou Jingtao;Mu Yiming(Department of Endocrinology,The First Medical Center of Chinese PLA General Hospital,Beijing 100853,China;The People′s Liberation Army Troop 32137,Zhangjiakou 075051,China;Department of Endocrinology,Hainan Hospital of PLA General Hospital,Sanya 572013,China;Department of Internal Medicine,No.316 Hospital of PLA General Hospital,Beijing 100000,China;The Sixth Medical Center of Chinese PLA General Hospital,Beijing 100048,China)

机构地区：[1]中国人民解放军总医院第一医学中心内分泌科,北京100853 [2]中国人民解放军32137部队,张家口075051 [3]中国人民解放军总医院海南医院内分泌科,三亚572013 [4]中国人民解放军316医院内科,北京100000 [5]中国人民解放军总医院第六医学中心内分泌科,北京100048

出　　处：《中华内分泌代谢杂志》2020年第5期425-428,共4页Chinese Journal of Endocrinology and Metabolism

摘　　要：本文报道1例伴颅骨转移的恶性嗜铬细胞瘤。该患者为25岁男性,10岁时诊断腹膜后副神经节瘤,手术切除小部分病灶后行放射治疗。15岁因头痛伴血压升高就诊,发现右肾上腺占位,未进一步诊治。25岁头痛加重,血压升高明显,就诊我院诊断右肾上腺嗜铬细胞瘤,并行手术切除。术后药物治疗血压可控制在正常范围。26岁复查血、尿去甲肾上腺素及多巴胺均升高,同时发现颅顶占位性病变,131I-MIBG显像阳性,诊断恶性嗜铬细胞瘤伴颅骨转移。颅顶病灶先后行4次射波刀治疗,病灶略缩小。29岁出现右侧肋骨与左侧髂骨多处转移,行131I-MIBG放射治疗。基因检测示SDHB基因致病性突变。治疗后1年随访,口服酚苄明10 mg,qd,血压波动于140/90 mmHg(1 mmHg=0.133 kPa)左右。本例患者为恶性嗜铬细胞瘤伴颅骨等多处骨转移,幼年起病,病程跨度大但预后尚理想。我们建议实施以临床表型指导的基因检测诊断路径,及时诊断、合理评估嗜铬细胞瘤患者预后并长期密切随访。This article reported a case of malignant pheochromocytoma and paraganglioma with cranial metastasis.The patient was a 25-year-old man.At the age of 10,he was diagnosed with retroperitoneal paraganglioma.He received radiotherapy after partial resection of the tumor.At the age of 15,when he consulted for headache and hypertension,a space occupying lesion was found on the right adrenal without further diagnosis and treatment.His headache and hypertension were aggravated at the age of 25.Then he visited our medical center and diagnosed with right adrenal pheochromocytoma.He undertook an operation to remove the right adrenal lesion,and his blood pressured could be controlled in the normal range with oral antihypertensive medication.One year after the surgery,a cranial lesion with positive 131I-metaiodobenzylguanidine imaging was found following the increase of norepinephrine and dopamine in both blood and urine.The diagnosis of malignant pheochromocytoma with cranial metastasis was confirmed.The cranial lesion was treated with cyberknife therapy for 4 times,and the lesion was slightly reduced.Four year after the removal of right adrenal tumor,he developed multiple bone metastasis in the right ribs and left ilium,and then he received 131I-metaiodobenzylguanidine radiotherapy.Additionally,the results of gene test indicated a pathogenic mutation of SDHB.During the follow-up period of one year after the treatment,his blood pressure fluctuated to about 140/90mmHg with 10mg of phenoxybenzamine once a day.The case is a malignant pheochromocytoma with multiple bone metastasis characterized by a long course with an ideal prognosis in a way.Consequently,we suggested the diagnostic pathway with genetic testing based on clinical phenotype to approach more timely diagnosis and reasonable evaluation of the prognosis in pheochromocytoma and paraganglioma.Furthermore,clinicians should pay more attention to the long-term surveillance.

关 键 词：恶性嗜铬细胞瘤 颅骨转移 基因突变 

分 类 号：R73[医药卫生—肿瘤]