复发性双侧肾上腺嗜铬细胞瘤-VHL病1例并文献复习

徐惟捷; 罗雨; 何文涛; 谢君辉

doi:10.16766/j.cnki.issn.1674-4152.004317

复发性双侧肾上腺嗜铬细胞瘤-VHL病1例并文献复习

doi: 10.16766/j.cnki.issn.1674-4152.004317

华中科技大学同济医学院附属同济医院内分泌科，国家代谢性疾病临床医学研究中心湖北分中心，湖北武汉 430030

详细信息

通讯作者:
谢君辉，E-mail：junhui_xiexie@sina.com

中图分类号: R736.6 R596
计量
- 文章访问数: 11
- HTML全文浏览量: 5
- PDF下载量: 0
- 被引次数: 0
出版历程
- 收稿日期: 2024-12-12
- 网络出版日期: 2026-03-13

A case of recurrent bilateral adrenal pheochromocytoma-VHL disease and literature review

Division of Endocrinology, Department of Internal Medicine, Tongji Hospital, Huazhong University of Science and Technology; Branch of National Clinical Research Center for Metabolic Diseases, Wuhan, Hubei 430030, China

摘要

摘要: 本文报道了1例临床表现为复发性双侧肾上腺嗜铬细胞瘤，同时合并颈髓血管母细胞瘤、肾囊肿和胰腺囊肿的患者，患者一级亲属患有肾透明细胞癌，临床诊断为希佩尔-林道综合征(VHL病)，通过基因检测结果证实了该诊断。本文总结了近10年文献中报道有肾上腺嗜铬细胞瘤表现的VHL病的临床特点。凡是双侧、复发或转移性嗜铬细胞瘤，或合并有中枢血管母细胞瘤、视网膜血管母细胞瘤、肾癌、胰腺神经内分泌肿瘤或囊肿和生殖系统囊腺瘤等病变的患者需要高度怀疑VHL病，积极进行基因检测和家系调查，避免漏诊误诊。
- Von Hippel-Lindau病 /
- 嗜铬细胞瘤 /
- 双侧 /
- 复发
Abstract: This paper reported a patient presented with recurrent bilateral adrenal pheochromocytoma combined with cervical medullary hemangioblastoma, renal cyst, and pancreatic cyst, she had a first-degree relative with renal clear cell carcinoma and was diagnosed as Von Hippel-Lindau (VHL) disease. Genetic testing further confirmed the diagnosis. We summarized the clinical characteristics of VHL disease with adrenal pheochromocytoma reported in the literatures in the past 10 years. Patients with bilateral, recurrent or metastatic pheochromocytoma, or with central angioblastoma, retinal hemangioblastoma, renal cancer, pancreatic neuroendocrine tumor, cyst and cystadenoma of the reproductive system should be highly suspected of VHL disease. We should carry out genetic testing and family investigation as to avoid missed diagnosis and misdiagnosis.
- Von Hippel-Lindau disease /
- Pheochromocytoma /
- Bilateral /
- Recurrent

HTML全文

图 1 患者既往肾上腺CT及垂体MRI影像

注：A为2012年11月肾上腺增强CT，提示左侧肾上腺区肿瘤复发；B为2012年11月垂体MRI，提示上段颈髓内信号欠均匀；C、D为2020年5月肾上腺增强CT，提示双侧肾上腺肿瘤复发。

Figure 1. Previous adrenal CT and pituitary MRI images of the patient

下载: 全尺寸图片幻灯片

表 1 38例合并嗜铬细胞瘤的VHL病例总结

Table 1. Summary of 38 cases of VHL with pheochromocytoma

项目	类别	例数(%)
性别	男性	21(55.3)
	女性	17(44.7)
发病年龄(岁)	≤20	20(52.6)
	21~40	9(23.7)
	＞40	5(13.2)
	不详	4(10.5)
嗜铬细胞瘤情况	单侧	16(42.1)
	双侧	22(57.9)
	复发	2(5.3)
	转移	4(10.5)
合并其他系统受累	中枢血管母细胞瘤	11(28.9)
	视网膜血管母细胞瘤	4(10.5)
	肾癌或肾囊肿	9(23.7)
	胰腺内分泌肿瘤或囊肿	10(26.3)
	生殖系统囊腺瘤	3(7.9)
	内淋巴囊肿瘤	0
系统受累个数	1(仅肾上腺)	22(57.9)
	2(肾上腺+另外1个)	4(10.5)
	3(肾上腺+另外2个)	6(15.8)
	4(肾上腺+另外3个)	5(13.2)
	5(肾上腺+另外4个)	1(2.6)

下载: 导出CSV

参考文献(28)

[1]	张琦, 韩斌. 希佩尔·林道综合征1例报告[J]. 中华实用外科杂志, 2020, 40(12): 1461-1462. ZHANG Q, HAN B. Hipper Lindau syndrome: a case report[J]. Chinese J of Pract Surg, 2020, 40(12): 1461-1462.
[2]	蒲鹏, 郑晓雅, 刘瑞闪, 等. 以高血压、糖尿病为首发表现的冯·希佩尔-林道综合征一例[J]. 罕见病研究, 2023, 2(1): 115-120. PU P, ZHENG X Y, LIU R S, et al. A case of von Hipper-Lindau syndrome with hypertension and diabetes as the first manifestations[J]. J of Rare Dis, 2023, 2(1): 115-120.
[3]	WHITMAN A, DAMODHARAN S, BHATIA A, et al. Hemangioblastoma and mosaic von Hippel Lindau disease: rare presentation and review of the literature[J]. Childs Nerv Syst, 2023, 39(5): 1361-1363. doi: 10.1007/s00381-023-05859-7
[4]	LOUISE M B M, SMERDEL M, BORGWADT L, et al. Von Hippel-Lindau disease: updated guideline for diagnosis and surveillance[J]. Eur J Med Genet, 2022, 65(8): 104538. DOI: 10.1016/j.ejmg.2022.104538.
[5]	李雪丽, 曹彩霞, 宋洁, 等. 嗜铬细胞瘤/副神经节瘤核心差异表达基因的生物信息学分析鉴定[J]. 青岛大学学报(医学版), 2022, 58(2): 183-188. LI X L, CAO C X, SONG J, et al. Bioinformatics analysis and identification of core differentially expressed genes in pheochromocytoma/paraganglioma[J]. Journal of Qingdao University(Medical Sciences), 2022, 58(2): 183-188.
[6]	马文明, 李强, 卓然, 等. 嗜铬细胞瘤术前CT影像学参数与围手术期参数的相关性研究[J]. 诊断学理论与实践, 2020, 19(2): 172-176. MA W M, LI Q, ZHUO R, et al. Correlation between preoperative CT imaging parameters and perioperative parameters of pheochromocytoma[J]. J Diagn Concepts Pract, 2020, 19(2): 172-176.
[7]	王旭, 宋歌, 王宗平. 不均匀度在肾乏脂肪血管平滑肌脂肪瘤与肾透明细胞癌CT鉴别中的价值研究[J]. 中华全科医学, 2021, 19(3): 449-453. WANG X, SONG G, WANG Z P. The value of non-uniformity in CT differentiation of renal anadipocyte angiomyolipoma and renal clear cell carcinoma[J]. Chinese J of General Pract, 2021, 19(3): 449-453.
[8]	NEGRO A, GRAIANI G, NICOLI D, et al. Concurrent heterozygous Von-Hippel-Lindau and transmembrane-protein-127 gene mutation causing an erythropoietin-secreting pheochromocytoma in a normotensive patient with severe erythrocytosis[J]. J Hypertens, 2020, 38(2): 340-346. doi: 10.1097/HJH.0000000000002253
[9]	BELAID R, OUESLATI I, CHIHAOUI M, et al. A case of von Hippel-Lindau Disease with bilateral pheochromocytoma and ectopic hypersecretion of intact parathyroid hormone in an adolescent girl[J]. Case Rep Endocrinol, 2020, 2020: 8824640. DOI: 10.1155/2020/8824640.
[10]	FUGARU I, GOUDIE C, CAPOLICCHIO J P. Von Hippel-Lindau disease and rapidly progressing pheochromocytomas in siblings[J]. Fam Cancer, 2022, 21(2): 229-233. doi: 10.1007/s10689-021-00252-2
[11]	VEROT P L, RABATTU P Y, CHABRE O, et al. Pediatric pheochromocytoma in association with Von Hippel-Lindau disease: focus on screening strategies[J]. Arch Pediatr, 2020, 27(8): 497-501. doi: 10.1016/j.arcped.2020.09.010
[12]	WANG L, FENG Y, JIANG L Y. Anesthetic management of bilateral pheochromocytoma resection in Von Hippel-Lindau syndrome: a case report[J]. World J Clin Cases, 2021, 9(15): 3711-3715. doi: 10.12998/wjcc.v9.i15.3711
[13]	ZHENG S, YIN G, ZHOU M, et al. Hereditary pheochromocytoma with the von Hippel-Lindau gene mutation in a child: a case report[J]. Asian J Surg, 2023, 46(5): 2256-2258. doi: 10.1016/j.asjsur.2022.11.129
[14]	EULALIO J M R, CARVALHO T P, BRABO E P, et al. Pancreatoduodenectomy in patient with von Hippel-Lindau disease: a literature review[J]. Arq Bras Cir Dig, 2022, 35: e1697. DOI: 10.1590/0102-672020220002e1697.
[15]	NAIR A V, VIJAYARAGHAVAN A, ALEXANDER P T, et al. More than it meets the eye! Vision loss as a presenting symptom of von Hippel-Lindau disease[J]. J Pediatr Neurosci, 2020, 15(3): 314-316. doi: 10.4103/jpn.JPN_24_20
[16]	LANDEN L, DE LEENER A, LE ROUX M, et al. Case report: aggressive neural crest tumors in a child with familial von Hippel Lindau syndrome associated with a germline VHL mutation (c. 414A>G) and a novel KIF1B gene mutation[J]. Front Endocrinol(Lausanne), 2023, 14: 1204793. DOI: 10.3389/fendo.2023.1204793.
[17]	ANDERSON S. Volatile hypertensive crisis secondary to pheochromocytoma: a case report of von Hippel-Lindau syndrome[J]. J Pediatr Health Care, 2020, 34(3): 264-272. doi: 10.1016/j.pedhc.2020.01.002
[18]	YU M, DU B, YAO S, et al. Von Hippel-Lindau syndrome with a rare complication of dilated cardiomyopathy: a case report[J]. BMC Cardiovasc Disord, 2022, 22(1): 489. DOI: 10.1186/s12872-022-02913-1.
[19]	D' ANGELO L, PARENT A S, DERWAEL C, et al. Unusual cardiac manifestations of a pheochromocytoma in a girl[J]. Pediatr Rep, 2023, 15(1): 237-244. doi: 10.3390/pediatric15010019
[20]	KOLOKOTRONIS T, REIS H, KROISS M. Multiple hepatic and pulmonary tumors combined with bilateral adrenal masses in a young woman with von Hippel-Lindau disease[J]. Gastroenterology, 2021, 161(4): e1-e4. doi: 10.1053/j.gastro.2021.02.033
[21]	XIE F, ZHAO Q, PAN W, et al. Childhood pheochromocytoma crisis complicated with brain stem infarction: a case report[J]. Medicine (Baltimore), 2022, 101(51): e32479. DOI: 10.1186/s12872-022-02913-1.
[22]	BELLARBI D E, CHENTLI F. The importance of genetic study and long-term management in patients with bilateral pheochromocytomas[J]. Arch Clin Cases, 2021, 6(4): 85-90.
[23]	SINGH B, SINGLA M, SINGH R, et al. Von Hippel-Lindau Syndrome: multi-organ involvement highlighting its diverse clinical spectrum in two adult cases[J]. Cureus, 2020, 12(7): e9402. DOI: 10.7759/cureus.9402.
[24]	LIU F, CALHOUN B, ALAM M S, et al. Case report: a synonymous VHL mutation (c. 414A > G, p. Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing[J]. BMC Med Genet, 2020, 21(1): 42. DOI: 10.1186/s12881-020-0976-7.
[25]	KAKO Y, UEKI R, YAMAMOTO S, et al. Adrenal pheochromocytoma treated by combination of adrenal arterial embolization and radiofrequency ablation[J]. Clin Case Rep, 2021, 9(3): 1261-1265. doi: 10.1002/ccr3.3745
[26]	VANKADARI K, BODDULA R, HEGDE A G, et al. Metastatic pheochromocytoma diagnosed with (131) I-MIBG SPECT/CT imaging in a patient with pathogenic VHL mutation[J]. World J Nucl Med, 2022, 21(1): 73-75. doi: 10.1055/s-0042-1746177
[27]	WEN H Y, HOU J, ZENG H, et al. Tumor-to-tumor metastasis of clear cell renal cell carcinoma to contralateral synchronous pheochromocytoma: a case report[J]. World J Clin Cases, 2022, 10(19): 6750-6758. doi: 10.12998/wjcc.v10.i19.6750
[28]	LIN G B, ZHAO Y H, ZHANG Z W. Clinical diagnosis, treatment and screening of the VHL gene in three von Hippel-Lindau disease pedigrees[J]. Exp Ther Med, 2020, 20(2): 1237-1244. doi: 10.3892/etm.2020.8829