scholarly journals Von hippel-lindaus disease: Report of three cases and review of the literature

1995 ◽  
Vol 53 (4) ◽  
pp. 782-788 ◽  
Author(s):  
Luiz F. Bleggi-Torres ◽  
Lúcia de Noranha ◽  
J. Fillus Neto ◽  
José E. Queiroz Telles ◽  
Luiz E. Madalozzo
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Clear Cell ◽  
Review Of The Literature ◽  
The Third ◽  
The Family ◽  
Cerebellar Haemangioblastoma ◽  
Atypical Meningiomas ◽  
Cns Lesions

The authors present the autopsy findings of two related patients and the biopsy findings of a thrid member of the family. The oldest member was 34 years old at death and on postmortem examination he had haemangioblastomas in the retina, cerebellum, medulla and spinal cord. Other findings were renal cell carcinoma, phaechromocytoma, cysts of kidney and pancreas, hydromyelia and atypical meningiomas. His brother died when 30 years old. The autopsy revealed haemangioblastomas of cerebellum, renal cell carcinoma and a clear cell cystadenoma of epididymus. The third patient was the daughter of the first and presented with headache and dizziness. CT-scan showed a cerebellar haemangioblastoma. Epidemiological considerations on the commonest visceral and CNS lesions and a review of current diagnostic criteria are discussed.

scholarly journals Identification of alterations in the nucleotide sequence of the chromatin remodeling gene PBRM1 in clear cell renal cell carcinoma patients

2018 ◽  
Vol 22 (7) ◽  
pp. 873-877
Author(s):  
E. A. Klimentova ◽  
I. R. Gilyazova ◽  
A. A. Izmailov ◽  
I. M. Sultanov ◽  
M. A. Bermisheva ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Nucleotide Sequence ◽  
Tumor Suppressor ◽  
Cell Carcinoma ◽  
Kidney Cancer ◽  
Chromatin Remodeling ◽  
Renal Cell ◽  
Clear Cell ◽  
Cell Renal Cell Carcinoma ◽  
The Third

Kidney cancer is a heterogeneous group of malignant tumors, the vast majority of which are renal cell carcinomas (RCC) of various morphological types, of which the most common is the clear cell renal cell carcinoma (ccRCC). Particular attention in the carcinogenesis of the ccRCC is given to a number of tumor suppressor genes located on the short arm of the third chromosome. One of these genes, which are inactivated in the case of ccRCC is the PBRM1 gene encoding the PBAF SWI/SNF subunit of the chromatin remodeling complex, BAF180. The PBRM1 gene is located on the short arm of the third chromosome in the 3p21 region near the von Hippel-Lindau gene (VHL), the mutation in which is the main event in the occurrence of ccRCC. The aim of our investigation is identification of changes in the nucleotide sequence of the PBRM1 tumor suppressor gene in patients with ccRCC. 210 pairs of DNA samples isolated from ccRCC tissue were studied. Analysis of changes in the nucleotide sequence of DNA was carried out by HRM analysis and direct sequencing. In the PBRM1 gene, two somatic mutations were found (c.233G>A (p.D45N) in exon 2, c.1675-1676delTC in exon 15) which were not described previously, and one known polymorphic variant rs17264436 (in exon 23). The frequency of detected mutations was 0.95 % of cases. Analysis of the allelic association for the polymorphic locus rs17264436 showed a statistically significant increase in the risk of developing advanced kidney cancer in carriers of allele rs17264436*A, which can be used in the development of prognostic marker panels. Perhaps the low frequency of mutations in the samples we studied is due to the fact that the inactivation of the PBRM1 gene takes place in other ways, and may also be due to the ethno-specificity of the studied group of patients.

scholarly journals Treatment of adult rhabdoid renal cell carcinoma with sorafenib

2008 ◽  
Vol 2 (6) ◽  
pp. 631 ◽  
Author(s):  
Anil Kapoor ◽  
Robert Tutino ◽  
Androniki Kanaroglou ◽  
Sebastien J. Hotte
Keyword(s):  
Renal Cell Carcinoma ◽  
Tyrosine Kinase Inhibitor ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Kinase Inhibitor ◽  
Clear Cell ◽  
Review Of The Literature ◽  
Histological Findings ◽  
Sorafenib Therapy ◽  
Rhabdoid Features

Renal cell carcinoma (RCC) with rhabdoid features is an uncommon and highly aggressive malignancy. We report a case of adult clear-cell RCC with extensive rhabdoid features treated with the tyrosine kinase inhibitor sorafenib. A review of the literature summarizes important aspects of this malignancy. We discuss clinical and histological findings as well as the patient’s response to sorafenib therapy.

scholarly journals Clear cell papillary renal cell carcinoma: A case report and review of the literature

2018 ◽  
Vol 7 (8) ◽  
pp. 155-160
Author(s):  
Sung Han Kim ◽  
Whi-An Kwon ◽  
Jae Young Joung ◽  
Ho Kyung Seo ◽  
Kang Hyun Lee ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Case Report ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Clear Cell ◽  
Papillary Renal Cell Carcinoma ◽  
Review Of The Literature

scholarly journals Chronic lymphocytic lymphoma and concomitant renal cell carcinoma (Clear Cell Type): Review of the literature

2016 ◽  
Vol 6 ◽  
pp. 8-10
Author(s):  
Burak Uz ◽  
Ilhan Dolasik ◽  
Ozlem Ucer ◽  
Adile Ferda Dagli ◽  
Sercan Simsek
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Clear Cell ◽  
Review Of The Literature ◽  
Cell Type ◽  
Clear Cell Type
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