Familial renal cell carcinoma: clinical and molecular genetic aspects

Maher, ER; Yates, JRW

doi:10.1038/bjc.1991.43

Cited by 33 publications

(11 citation statements)

References 52 publications

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“…Multivariate analysis even demonstrated the presence of comorbidities to be the only independent predictor of OS in our collective. The occurrence of a second renal tumor has been described in 3 -5 % of cases [33], which is comparable to our experiences with metachronous tumors in 5 % of cases. It is important to note that both patients with second tumor development did not suffer from von-Hippel-Lindau syndrome, which is commonly associated with the development of multiple tumors [34].…”

supporting

confidence: 76%

Percutaneous CT-Guided Radiofrequency Ablation of Solitary Small Renal Masses: A Single Center Experience

Pieper

Fischer

Strunk

et al. 2015

Fortschr Röntgenstr

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Purpose: To analyze the outcome of patients undergoing percutaneous CT-guided radiofrequency ablation (RFA) of small renal masses (SRM) at a single center during a ten-year time period. Materials and Methods: Patient records of renal RFAs (07/2003???11/2013) were reviewed. Indications were SRM suspicious of malignancy on imaging and one of the following: severe comorbidity; old age; solitary kidney; impaired renal function; patient wish. Biopsy was performed at the time of RFA. Patients were excluded if no follow-up was available. Patient and procedural characteristics were recorded. Survival rates were calculated using the Kaplan-Meier?s method and compared with log-rank or cox tests. Results: 38 patients (16 females, mean age 70.0 years [range 52???87]) presenting with a solitary SRM were included in the study. Biopsy showed malignancy in 29 patients; 9 had benign tumors. 26 patients suffered from cardiovascular, respiratory or hepatic comorbidities. Technical success (complete ablation on first follow-up) was achieved in 95?% of cases. Two major complications (bowel perforation; hematothorax) occurred. The 3- and 7-year overall survival (OS) [any cause] rates were 73.4???0.8?% and 50.3???1.0?%, respectively (mean follow-up 54.6 months, range 1???127). 4 recurrences and 2 metastases were observed. The presence of comorbidities was the only independent predictor of OS.?There was no difference in survival between patients with benign and malignant tumors. Conclusion: RFA of SRM is successful in a large percentage of cases with a low complication rate and durable local control. As RFA is typically performed in multimorbid patients, overall survival seems to depend primarily on comorbidities rather than cancer progression. Key Points ??RFA of SRM is technically successful in the majority of cases. ??RFA leads to a high degree of local tumor control. ??Post-RFA most patients ultimately die of comorbidities. ??Overall survival post-RFA does not significantly differ between benign and malignant tumors in multimorbid patients. Citation Format: ??Pieper C. C., Fischer S., Strunk H. et?al. Percutaneous CT-Guided Radiofrequency Ablation of Solitary Small Renal Masses: A Single Center Experience. Fortschr R?ntgenstr 2015; 187: 577???583

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supporting

confidence: 76%

Percutaneous CT-Guided Radiofrequency Ablation of Solitary Small Renal Masses: A Single Center Experience

Pieper

Fischer

Strunk

et al. 2015

Fortschr Röntgenstr

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“…Segregation Analysis was done using the jPAP 9 program. UK population incidences for RCC were obtained from the cancer diagnoses registrations for England 2004 (16).…”

Section: Methodsmentioning

confidence: 99%

“…Familial cRCC may be rarely associated with constitutional translocations of chromosome 3 (5 -8); however, most cases of familial cRCC not associated with VHL disease are classified as nonsyndromic (cryptogenic) FcRCC. Before 1991, just 105 patients with nonsyndromic familial RCC (9) had been reported, but molecular testing for VHL disease was not available until 1993 (4). In addition, hereditary nonclear cell papillary RCC was not well defined until 1994, and subsequently, many cases of hereditary nonclear cell papillary RCC were shown to have germline MET gene mutations (10 -12).…”

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confidence: 99%

Familial Non-VHL Clear Cell (Conventional) Renal Cell Carcinoma: Clinical Features, Segregation Analysis, and Mutation Analysis of FLCN

Woodward

Ricketts

Killick

et al. 2008

Clinical Cancer Research

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Purpose: Familial renal cell carcinoma (RCC) is genetically heterogeneous. The most common histopathologic subtype of sporadic and familial RCC is clear cell (cRCC) and von Hippel-Lindau (VHL) disease is the most common cause of inherited cRCC. Familial cRCC may also be associated with chromosome 3 translocations and has recently been described in patients with Birt-Hogg-Dube (BHD) syndrome, caused by germline FLCN mutation. Fewer than 20 kindreds with familial cRCC withoutVHL disease or a constitutional translocation have been described.The purpose of this investigation was to define the clinical and genetic features of familial non-VHL cRCC (FcRCC) and to evaluate whether unrecognized BHD syndrome might be present in patients with apparent nonsyndromic RCC susceptibility. Experimental Design: We analyzed the clinical features of, and undertook segregation analysis in, 60 kindreds containing two or more cases of RCC (at least one confirmed case of cRCC) and no evidence of an RCC susceptibility syndrome. We also undertook FLCN analysis to evaluate whether unrecognized BHD syndrome might be present in 69 patients with apparent nonsyndromic RCC susceptibility. Results: FcRCC was characterized by an earlier age at onset than sporadic cases and more frequent occurrence of bilateral or multicentric tumors. Segregation analysis showed autosomal dominant inheritance with sex-and age-dependent penetrance. A germline FLCN mutation was detected in 3 of 69 (4.3%) patients with apparent nonsyndromic RCC susceptibility. Conclusions: We describe the clinical and genetic features of the largest series of FcRCC and recommend these patients be offered FLCN analysis, in addition to constitutional cytogenetic and VHL analysis.

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“…Hierzu zählen die selteneren Nierentumoren bei Patienten mit einer konstitutiven Translokation unter Beteiligung des Chromosoms 3 mit anderen Chromosomen (6,8,11,12), [18,19,20,21]. Diese Veranlagung kann durch Chromosomenanalyse bei Familienmitgliedern von Betroffenen nachgewiesen werden.…”

Section: Genetik/pathogeneseunclassified

Molekulare Diagnostik von Erkrankungen der Niere mit genetischer Prädisposition

Junker

2003

Urologe [A]

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The genetic basis for dysplasia and tumors of the kidney has increasingly become the subject of cytogenetic and molecular genetic investigations over the last decade. For that reason, it is now possible to define the risk of disease recurrence more precisely in families with kidney diseases caused by genetic alterations. The relevant genes and the mutations have been identified for most of these diseases and genetic diagnostics are possible. However, it is necessary to evaluate in each individual case whether genetic diagnostics are reasonable. This will be discussed for polycystic renal diseases, agenesis and dysplasia of the kidney, and hereditary kidney tumors.

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Familial renal cell carcinoma: clinical and molecular genetic aspects

Cited by 33 publications

References 52 publications

Percutaneous CT-Guided Radiofrequency Ablation of Solitary Small Renal Masses: A Single Center Experience

Percutaneous CT-Guided Radiofrequency Ablation of Solitary Small Renal Masses: A Single Center Experience

Familial Non-VHL Clear Cell (Conventional) Renal Cell Carcinoma: Clinical Features, Segregation Analysis, and Mutation Analysis of FLCN

Molekulare Diagnostik von Erkrankungen der Niere mit genetischer Prädisposition

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