Radiological evaluation, management, and surveillance of renal masses in Von Hippel–Lindau disease

Meister, Michael; Choyke, Peter L.; Anderson, Christian E.; Patel, Uday

doi:10.1016/j.crad.2008.10.010

Cited by 70 publications

(40 citation statements)

References 52 publications

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“…Although there is increasing interest in the use of contrast-enhanced ultrasound (CEUS; ref. 62), there are insufficient data to recommend CEUS over MRI for routine surveillance. As some paragangliomas are predominantly dopaminergic (particularly those associated with SDHB, C, D), plasma methoxytyramine analysis is advocated in addition to metanephrines (63)(64)(65).…”

Section: Screening/surveillancementioning

confidence: 99%

Von Hippel–Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood

Rednam

Erez

Druker

et al. 2017

Clinical Cancer Research

225

157

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Von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition syndrome that places affected individuals at risk for multiple tumors, which are predominantly benign and generally occur in the central nervous system or abdomen. Although the majority of tumors occur in adults, children and adolescents with the condition develop a significant proportion of vHL manifestations and are vulnerable to delayed tumor detection and their sequelae. Although multiple tumor screening paradigms are currently being utilized for patients with vHL, surveillance should be reassessed as the available relevant clinical information continues to expand. We propose a new vHL screening paradigm similar to existing approaches, with important modifications for some tumor types, placing an emphasis on risks in childhood. This includes advancement in the timing of surveillance initiation and increased frequency of screening evaluations. Another neuroendocrine-related familial condition is the rapidly expanding hereditary paraganglioma and pheochromocytoma syndrome (HPP). The tumor spectrum for patients with HPP syndrome includes paragangliomas, pheochromocytomas, renal cancer, and gastrointestinal stromal tumors. The majority of patients with HPP syndrome harbor an underlying variant in one of the SHDx genes (SDHA, SDHB, SDHC, SDHD, SDHA, and SDHAF2), although other genes also have been described (MAX and TMEM127). Annual screening for elevated plasma or urine markers along with complete blood count and biennial whole-body MRI accompanied by focal neck MRI is recommended for older children and adults with HPP syndrome to detect tumors early and to decrease morbidity and mortality from HPP-related tumors.

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Section: Screening/surveillancementioning

confidence: 99%

Von Hippel–Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood

Rednam

Erez

Druker

et al. 2017

Clinical Cancer Research

225

157

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“…Currently, RCC is the cause of death of 15-50% of patients with VHL [1,2,4], in spite of the fact that RCCs in these patients tend to have a low histological grade and slower growth, compared with sporadic RCCs [21]. Although the mean growth rate of RCC in patients with VHL was found to be between 0.3 and 0.5 cm/year [22,23], the median life expectancy of affected patients has been reduced to 49 years [21].…”

Section: Discussionmentioning

confidence: 99%

“…Although the mean growth rate of RCC in patients with VHL was found to be between 0.3 and 0.5 cm/year [22,23], the median life expectancy of affected patients has been reduced to 49 years [21].…”

Section: Discussionmentioning

confidence: 99%

“…Limited therapeutic options are available for multiple and bilateral RCCs. For such cases, renal transplantation or hemodialysis is required after bilateral radical nephrectomy; however, both worsen the patient's prognosis and quality of life [21,22,24]. Recently, nephron-sparing surgery has been considered a gold standard treatment for small renal masses and is considered a favorable treatment for RCCs in patients with VHL.…”

Section: Discussionmentioning

confidence: 99%

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Percutaneous CT-guided Radiofrequency Ablation for Renal Cell Carcinoma in von Hippel-Lindau Disease: Midterm Results

Gobara

Hiraki

Iguchi

et al. 2016

Interventional Radiology

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Purpose: To evaluate the safety and midterm results of radiofrequency (RF) ablation for the treatment of renal cell carcinoma (RCC) in patients with von Hippel-Lindau (VHL) disease. Materials and methods: This study included 13 patients with VHL (8 women and 5 men; mean age: 35.5 years) and RCC. Each patient presented with 1-6 RCCs (mean: 2.4 1.7) without extrarenal metastasis. The mean tumor diameter was 18.0 5.0 mm. Transcatheter arterial embolization was performed for 5 (16.7%) of 31 tumors. All RF ablation procedures involved the percutaneous use of internally cooled RF electrodes under computed tomography fluoroscopic guidance. Adverse events were evaluated using the Common Terminology Criteria for Adverse Events, version 4.0, and pre-and post-treatment estimated glomerular filtration rates (eGFRs) were compared using paired t-tests. Local tumor progression, distant metastasis, and survival were also evaluated. Results: Twenty-three RF ablation sessions were technically successful. A grade 3 adverse event (hydronephrosis due to blood clotting, thus requiring ureteral stent placement) occurred in 1 (4%) of 23 sessions. The mean eGFR measured at !1 month after ablation was significantly lower than the mean eGFR before ablation (70.2 21.9 versus 78.8 23.0, p < 0.001). Local tumor progression was seen in 1 (3%) of 31 tumors. No patients died, required dialysis, or developed extra-renal metastases during a median 40-month follow-up. Conclusions: RF ablation for RCC is a safe, highly effective, and promising treatment option for patients with VHL disease.

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“…However, patients with VHL do worse on renal-replacement therapy. A large study 49 showed a 5-year survival rate of 65% in VHL patients on dialysis compared with 71-86% for the non-VHL group. But renal impairment in the absence of renal surgery is rare among VHL patients.…”

Section: Radiology Of Renal Masses In Vhlmentioning

confidence: 99%

Renal Tumors in Patients with von Hippel-Lindau Disease: "State of Art Review"

Maestro¹,

Martínez‐Piñeiro²,

González³

2011

Renal Cell Carcinoma

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Radiological evaluation, management, and surveillance of renal masses in Von Hippel–Lindau disease

Cited by 70 publications

References 52 publications

Von Hippel–Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood

Von Hippel–Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood

Percutaneous CT-guided Radiofrequency Ablation for Renal Cell Carcinoma in von Hippel-Lindau Disease: Midterm Results

Renal Tumors in Patients with von Hippel-Lindau Disease: "State of Art Review"

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