摘要
目的探讨肾脏副神经节瘤(PGL)临床特征。方法总结1例罕见的儿童肾脏副神经节瘤患者的临床资料并复习国内外发表的肾脏副神经节瘤病例。结果男性患儿,12岁,因右肾占位手术,病理确诊为肾副神经节瘤。免疫组化染色结果:CgA(+),S-100(+),Ki-67(热点区20%+),SDHB(-)。胚系基因检测显示,SDHB 6号外显子存在一个杂合突变,c.641A>C(p.Gln214Pro)。术后对术区局部进行放射放疗。术后^(18)F-FDG-PET/CT指示:未见转移病灶。复习文献:对2001—2024年国内外报道的肾脏副神经节瘤15例(包括本文病例)进行临床特征总结,其中,男性8例,女性7例,患者平均诊断年龄为(42±17)岁。仅5例患者术前有高血压,仅2例有典型的临床症状。8例患者术前进行了儿茶酚胺检测,仅4例升高。肿瘤最大直径为(9.9±7.3)cm,67%(10/15例)的患者肿瘤直径≥5 cm,30%(3/10例)的患者肿瘤S-100染色阴性,50%(2/4例)的肿瘤Ki-67≥3%。结论肾脏副神经节瘤极其罕见,部分患者无临床症状且儿茶酚胺检测正常,容易误诊。由于肿瘤常常较大,Ki-67较高,因此复发转移风险较高,术后要密切随诊。
Objective To explore the clinical characteristics of renal paraganglioma(PGL).Methods The clinical data of a rare case of renal paraganglioma in a pediatric patient were reported and published cases of renal paragangliomas both domestically and internationally were reviewed.Results A 12-year-old male patient underwent surgery for a right renal mass,with histopathological confirmation revealing a renal paraganglioma.Immunohistochemical staining results were positive for CgA and S-100,while Ki-67 index showed positivity in hot spots at 20%.The SDHB stain was negative.Germline genetic testing detected a heterozygous mutation in exon 6 of the SDHB gene,c.641A>C(p.Gln214Pro).Following surgery,local radiotherapy was administered to the operative area.A posto-perative ^(18)F-FDG-PET/CT scan did not reveal any metastatic lesions.A total of 15 cases of renal paraganglioma have been reported at home and abroad since 2001,of which 8 were male and 7 were female,with an average age at diagnosis being(42±17)years old.Only 5 patients had hypertension preoperatively,and only 2 presented with typical clinical symptoms.Out of 8 patients who underwent catecholamine testing before surgery,only 4 demonstrated elevated levels.The maximum tumor diameter was(9.9±7.3)cm,with 67%(10 out of 15 cases)having tumors larger than or equal to 5 cm in diameter.In this group,30%(3 out of 10 cases)had tumors that were S-100 negative,and 50%(2 out of 4 cases)had tumors with a Ki-67 index of≥3%.Conclusions Renal paraganglioma is extremely rare,and some patients present without clinical symptoms and with normal catecholamine,making misdiagnosis more likely.Due to the frequent occurrence of large tumors and high Ki-67 indexes,such tumors carry a relatively higher risk of recurrence and metastasis.Therefore,close follow-up is essential after the operation.
作者
张文倩
周玥
童安莉
ZHANG Wenqian;ZHOU Yue;TONG Anli(Department of Endocrinology,Key Laboratory of Endocrinology of National Health Commission,Peking Union Medical College Hospital,CAMS&PUMC,Beijing 100730;Graduate School,Hebei North University,Zhangjiakou 075000,China)
出处
《基础医学与临床》
CAS
2024年第11期1578-1583,共6页
Basic and Clinical Medicine
基金
国家重点研发计划(2021YFC2501600,2021YFC2501603)
中央高水平医院临床研究专项(2022-PUMCH-C-028)
中国医学科学院医学与健康科技创新工程(2021-I2M-C&T-B-002)。
关键词
肾脏
副神经节瘤
临床特征
kidney
paraganglioma
clinical features
