以嗜铬细胞瘤为表现的VHL综合征1例

江陈菊; 吴晶晶; 瞿连喜

doi:10.13201/j.issn.1001-1420.2022.09.016

以嗜铬细胞瘤为表现的VHL综合征1例

- 1.
  福建医科大学附属第二医院妇产科(福建泉州，362000)
- 2.
  复旦大学附属华山医院泌尿外科

详细信息

通讯作者: 瞿连喜，E-mail：qulianxi@medmail.com.cn

中图分类号: R736.6

收稿日期: 2021-02-07

刊出日期: 2022-09-06

One case report of VHL syndrome presenting and literature review

- 1.
  Department of Obstetrics and Gynecology, Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, 362000, China
- 2.
  Department of Urology, Huashan Hospital, Affiliated Hospital of Fudan University

More Information

Corresponding author: QU Lianxi, E-mail: qulianxi@medmail.com.cn

Received Date: 07 February 2021

Publish Date: 06 September 2022

摘要

摘要: 希佩尔·林道综合征(Von Hippel-Lindau，VHL)综合征在临床上极少见，为多系统、多发肿瘤为症状的常染色体显性遗传病，其临床表现视网膜或中枢神经系统的血管母细胞瘤、中耳内淋巴囊肿瘤、胰腺囊肿和神经内分泌肿瘤、肾囊肿和肾细胞癌、嗜铬细胞瘤和副神经节瘤、附睾和阔韧带乳头状囊腺瘤。现报道华山医院泌尿外科近年收治的1例以嗜铬细胞瘤为表现的VHL综合征患者。
- 嗜铬细胞瘤 /
- VHL综合征 /
- 肿瘤 /
- 基因检测
Abstract: Von Hippel-Lindau (VHL) syndrome is a rare and autosomal dominant genetic disease characterized by multiple systems and multiple tumors. Its′clinical manifestations are as follows: hemangioblastoma of the retina or central nervous system, endolymphatic sac tumor of auris media, visceral tumors such as renal cell carcinoma or cyst, pheochromocytoma, paraganglioma, pancreatic cancer or cyst, papillary cystadenoma of epididymis or the broad ligament. This paper reports a case of VHL syndrome presenting as pheochromocytoma admitted to department of urology of Huashan Hospital in recent years.
- pheochromocytoma /
- Von Hippel-Lindau syndrome /
- tumor /
- genetic detection

HTML全文

图 1 脑部CT(脑干血管母细胞瘤)

下载: 全尺寸图片幻灯片

图 2 脑血管造影(左颈内后交通动脉瘤)

下载: 全尺寸图片幻灯片

图 3 腹部CT增强(双侧肾上腺多发占位)

下载: 全尺寸图片幻灯片

图 4 腹部CT增强(肝内多发囊肿；胰腺体尾部小囊肿可能)

下载: 全尺寸图片幻灯片

参考文献(22)

[1]	Wang H, Shepard MJ, Zhang C, et al. Deletion of the von Hippel-Lindau Gene in Hemangioblasts Causes Hemangioblastoma-like Lesions in Murine Retina[J]. Cancer Res, 2018, 78(5): 1266-1274. doi: 10.1158/0008-5472.CAN-17-1718
[2]	Lin G, Zhao Y, Zhang Z, et al. 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
[3]	Wang Y, Liang G, Tian J, et al. Pedigree analysis, diagnosis and treatment in Von Hippel-Lindau syndrome: A report of three cases[J]. Oncol Lett, 2018, 15(4): 4882-4890.
[4]	Khan HA, Shahzad MA, Iqbal F, et al. Ophthalmological Aspects of von-Hippel-Lindau Syndrome[J]. Semin Ophthalmol, 2021, 36(7): 531-540. doi: 10.1080/08820538.2021.1897851
[5]	Coco D, Leanza S. Von Hippel-Lindau Syndrome: Medical Syndrome or Surgical Syndrome? A Surgical Perspective[J]. J Kidney Cancer VHL, 2022, 9(1): 27-32.
[6]	Palui R, Kamalanathan S, Sahoo J, et al. Adrenal adenoma in von Hippel-Lindau syndrome: A case report with review of literature[J]. J Cancer Res Ther, 2019, 15(Supplement): S163-S166.
[7]	阮海龙, 倪栋, 陈志贤, 等. IQQA-3D立体成像导航技术联合机器人辅助微波消融治疗VHL综合征肾肿瘤1例[J]. 临床泌尿外科杂志, 2020, 35(9): 764-766. https://www.cnki.com.cn/Article/CJFDTOTAL-LCMW202009021.htm
[8]	Morawiec-Slawek K, Opalinska M, Stefanska A, et al. Clinical challenges and dilemmas in the management of advanced pancreatic neuroendocrine tumour-the first manifestation of von Hippel-Lindau disease in a young patient[J]. Endokrynol Pol, 2021, 72(4): 412-413. doi: 10.5603/EP.a2021.0052
[9]	Varshney N, Kebede A A, Owusu-Dapaah H, et al. A Review of Von Hippel-Lindau Syndrome[J]. J Kidney Cancer VHL, 2017, 4(3): 20-29. doi: 10.15586/jkcvhl.2017.88
[10]	Murro V, Lippera M, Mucciolo D P, et al. Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome[J]. Mol Vis, 2021, 27: 542-554.
[11]	Dhanda M, Agarwal A, Mandal K, et al. Clinical, Biochemical, Tumoural and Mutation Profile of VHL-and MEN2A-Associated Pheochromocytoma: A Comparative Study[J]. World J Surg, 2022, 46(3): 591-599. doi: 10.1007/s00268-021-06393-w
[12]	苟成仁, 陈宗平, 刘通, 等. ⅡC型希佩尔·林道综合征一例报告[J]. 中华泌尿外科杂志, 2021, 42(12): 939-941.
[13]	Li SR, Nicholson KJ, Mccoy KL, et al. Clinical and Biochemical Features of Pheochromocytoma Characteristic of Von Hippel-Lindau Syndrome[J]. World J Surg, 2020, 44(2): 570-577. doi: 10.1007/s00268-019-05299-y
[14]	Astapova O, Biswas A, DiMauro A, et al. Bilateral Pheochromocytomas in a Patient with Y175C Von Hippel-Lindau Mutation[J]. Case Rep Endocrinol, 2018, 2018: 8967159.
[15]	Hong B, Ma K, Zhou J, et al. Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel-Lindau Disease[J]. Front Genet, 2019, 10: 867. doi: 10.3389/fgene.2019.00867
[16]	Hudler P, Urbancic M. The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis[J]. Genes(Basel), 2022, 13(2): 362.
[17]	兰卫华, 蓝保华, 刘秋礼, 等. 嗜铬细胞瘤和副神经节瘤遗传学和基因诊断的研究进展[J]. 临床泌尿外科杂志, 2019, 34(12): 1003-1008. https://www.cnki.com.cn/Article/CJFDTOTAL-LCMW201912020.htm
[18]	Fugaru I, Goudie C, Capolicchio JP. Von Hippel-Lindau disease and rapidly progressing pheochromocytomas in siblings[J]. Fam Cancer, 2021, 21(2): 229-233.
[19]	Gao S, Liu L, Li Z, et al. Seven Novel Genes Related to Cell Proliferation and Migration of VHL-Mutated Pheochromocytoma[J]. Front Endocrinol(Lausanne), 2021, 12: 598656. doi: 10.3389/fendo.2021.598656
[20]	Sanford T, Gomella P T, Siddiqui R, et al. Long term outcomes for patients with von Hippel-Lindau and Pheochromocytoma: defining the role of active surveillance[J]. Urol Oncol, 2021, 39(2): 131-134.
[21]	Penitenti F, Landoni L, Scardoni M, et al. Clinical presentation, genotype-phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel-Lindau syndrome[J]. Endocrine, 2021, 74(1): 180-187.
[22]	Oyon L D, Fernandez A A, Lopez L M, et al. Polycystic pancreas, gastrointestinal manifestation of von Hippel-Lindau disease[J]. Gastroenterol Hepatol, 2022, 45 Suppl 1: 73-74.