Advanced renal cell carcinoma associated with von Hippel-Lindau disease: A case report and review of the literature

Zhang, Lei; Xu, Bingying; Wang, Yiduo; Liu, Chunhui; Lǚ, Kai; Huang, Yeqing; Liu, Ning; Zhang, Xiaowen; Chen, Shuqiu; Chen, Ming

doi:10.3892/ol.2015.3279

Cited by 5 publications

(6 citation statements)

References 33 publications

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“…Classical telltale symptoms of PCC might be missing due to low activity. 10,11 Pancreatic lesions in VHL disease are usually asymptomatic as seen in our case. When symptomatic, they can present with vague symptoms of dyspepsia, diarrhea, and obstructive jaundice.…”

Section: Discussionmentioning

confidence: 56%

von Hippel–Lindau Disease with Multi-organ Cysts and Ticking Pheochromocytoma: A Rare Case

Sadacharan¹,

Sathya²,

Rao³

et al. 2019

World Journal of Endocrine Surgery

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Objective: A rare disease. Background: von Hippel-Lindau (VHL) disease is an autosomal dominant familial syndrome with a multitude of benign and malignant multivisceral tumors and one-third of them harbor pheochromocytoma (PCC). We intend to present one such rare case and challenges in its surgical management. Case: A 38-year-old lady presented with hypertension and episodic headache. Biochemical evaluation was suggestive of hypercatecholaminism. Magnetic resonance imaging (MRI) showed the presence of a heterogeneous intensity lesion in the left suprarenal area suggestive of PCC. Multiple cysts were seen in both the kidneys as well as in the pancreatic head and tail. Imaging of the brain and spine showed a left cerebellar and spinal cord hemangioblastoma, respectively. I-131 metaiodobenzylguanidine (MIBG) showed high uptake in the left suprarenal region. After adequate preparation, she underwent left adrenalectomy. Histopathology was consistent with adrenal PCC and the patient was biochemically cured of hypercatecholaminism. The presence of PCC and other manifestations of VHL type 2A were evident in this patient. Conclusion:The presence of multiple renal and pancreatic cysts can camouflage adrenal tumors intraoperatively. Careful identification, dissection, and differentiation of PCC from these cysts are crucial. Multicentricity and multifocality of PCC are not uncommon in VHL and these patients need lifelong close follow-up for other tumors as well.

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Section: Discussionmentioning

confidence: 56%

von Hippel–Lindau Disease with Multi-organ Cysts and Ticking Pheochromocytoma: A Rare Case

Sadacharan¹,

Sathya²,

Rao³

et al. 2019

World Journal of Endocrine Surgery

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“…has already been reported [8][9][10] in peripheral blood cells. Although pheochromocytoma is frequent in probands with VHL mutations, as well as RET and NF-1 mutations, paraganglioma is less frequent in probands with VHL mutations [4].…”

Section: Discussionmentioning

confidence: 82%

Retroperitoneal paraganglioma with loss of heterozygosity of the von Hippel–Lindau gene: a case report and review of the literature

et al. 2022

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Von Hippel-Lindau (VHL) disease is an autosomal dominant disease related to germline mutations in VHL. In VHL disease, pheochromocytoma develops in 10%-20% of patients because of germline mutations and loss of heterozygosity of VHL. However, the rate of paraganglioma associated with VHL is low compared with that of pheochromocytoma, and the reason is unknown. In this study, we performed germline and somatic mutation analyses of retroperitoneal paraganglioma that developed in a patient with clinically diagnosed VHL disease and investigated the tumorigenic mechanism of paraganglioma. The patient was a 25-year-old woman who was considered to have VHL disease on the basis of her family history. She was referred to our clinic to investigate a tumor at the bifurcation of the common iliac artery. The tumor was diagnosed as retroperitoneal paraganglioma by clinical evaluations. A left renal cell carcinoma was also suspected. Polymerase chain reaction direct sequencing analysis and polymorphic microsatellite analysis within the VHL locus suggested that loss of heterozygosity of VHL was associated with paraganglioma and renal cell carcinoma. Multiplex ligation-dependent probe amplification analysis showed a loss of the copy number of VHL exons in paraganglioma. These results suggest that VHL disease contributes to the development of paraganglioma. A literature review showed no reported common missense variants involved in the progression of paraganglioma. The loss of heterozygosity of VHL can be a tumorigenic mechanism of retroperitoneal paraganglioma in VHL disease. However, the low rate of paraganglioma compared with pheochromocytoma is not explained by their genetic background alone.

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“…Each kidney can have as many as 1100 cysts and 600 malignancies of renal cell carcinomas (10). According to different references, RCCs account for 3% of all malignant tumours in adults and 85% of all primary renal tumours (11). Also, in more than 75% of patients kidney carcinomas and cysts are multiple and reciprocal localization (12).…”

Section: Discussionmentioning

confidence: 99%

Von Hippel-Lindau syndrome and renal tumours: radiological diagnostic and treatment options. A case report and literature review

Untanas¹,

Trakymas²,

Lekienė³

et al. 2020

AML

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Background. Von Hippel-Lindau disease (VHL) is a rare autosomal dominant syndrome diagnosed for 1 out of 36000–45000 newborns and 90% of the patients have a clinical manifestation before 65 years of age. Affected individuals have an increased risk of developing tumours in several organs or their systems. The most common tumours are retinal or central nervous system hemangioblastomas (60–80%) and VHL-associated renal lesions. Contrast-enhanced computer tomography (CECT) is the gold standard for the diagnosis and characterization of renal tumours. The best treatment option for VHL syndrome-caused renal tumours are nephron-sparing treatment techniques (cryotherapy, radiofrequency, or microwave ablation), which require imaging control. All these innovative treatment techniques are extremely important for VHL patients, because they increase the quality of life by staving off renal dialysis and preventing distant metastases. Case report. Our case report presents a 16-year-old female with multiple renal cysts observed on ultrasound examination and clinically and molecularly diagnosed with Von Hippel-Lindau syndrome (deletion of the entire VHL gene). After that, for past 11 years multiple renal tumours were removed by cryoablation and patient monitoring on contrast-enhanced magnetic resonance (MRI) and CECT control scans was conducted. Conclusions. Active multidisciplinary patient follow-up, routine radiological examinations, and correct treatment tactics allow controlling the progression of renal cell carcinoma and other tumours associated with VHL syndrome, maintaining a normal organ function for a long time, and preventing distant metastases and fatal disease outcomes.

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Advanced renal cell carcinoma associated with von Hippel-Lindau disease: A case report and review of the literature

Cited by 5 publications

References 33 publications

von Hippel–Lindau Disease with Multi-organ Cysts and Ticking Pheochromocytoma: A Rare Case

von Hippel–Lindau Disease with Multi-organ Cysts and Ticking Pheochromocytoma: A Rare Case

Retroperitoneal paraganglioma with loss of heterozygosity of the von Hippel–Lindau gene: a case report and review of the literature

Von Hippel-Lindau syndrome and renal tumours: radiological diagnostic and treatment options. A case report and literature review

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