Whole ‐exome sequencing and immunohistochemistry findings in von Hippel–Lindau disease

ConclusionExcept for a SNV in theVHL gene, no other somatic SNVs were detected using WES. The phospho ‐S6 ribosomal protein in the mTOR pathway is a potential target in VHL‐related cerebellum hemangioblastomas.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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lio G Abstract INTRODUCTION AND OBJECTIVES: Kidney cancers represent 2% of cancers worldwide; the most common type is renal clear cell carcinoma (RCC). Surgical treatment remains the only effective therapy for localized renal cell carcinoma. Approximately 20% to 38% of patients undergoing radical nephrectomy (RN) for localized RCC will have subsequent disease progression, with 0.8% to 3.6% of local recurrences within the ipsilateral retroperitoneum (RFR). The main objective of this study is to evaluate prognostic features, oncological outcomes, and current management for renal fossa recurrence in patients with his...
Source: Urologic Oncology - Category: Urology & Nephrology Authors: Tags: Urol Oncol Source Type: research
ConclusionWe highlight here the challenge to make the difference between a primary gallbladder carcinoma and metastasis from RCC. Diagnosis is made on pathological examination and immunochemistry.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
The objective of the present study was to investigate the mRNA levels of important miRNA machinery components, DICER1, DROSHA, DiGeroge syndrome critical region gene 8 (DGCR8), and Argonaute 2 (AGO2), and their correlations with clinicopathological characteristics of ccRCC using mRNA expression data from The Cancer Genome Atlas kidney clear cell carcinoma (TCGA KIRC) cohort and a Korean ccRCC cohort. mRNA levels of DICER1, DROSHA, and DGCR8 were significantly decreased in both cohorts. However, AGO2 was significantly downregulated only in the Korean ccRCC cohort. Additionally, positive correlations were observed between th...
Source: Oncology Letters - Category: Cancer & Oncology Tags: Oncol Lett Source Type: research
AbstractPurposeThe study evaluated the usefulness of magnetic resonance imaging (MRI) texture parameters in differentiating clear cell renal carcinoma (CC-RCC) from non-clear cell carcinoma (NC-RCC) and in the histological grading of CC-RCC.Materials and methodsAfter institutional ethical approval, this retrospective study analyzed 33 patients with 34 RCC masses (29 CC-RCC and five NC-RCC; 19 low-grade and 10 high-grade CC-RCC), who underwent MRI between January 2011 and December 2012 on a 1.5-T scanner (Avanto, Siemens, Erlangen, Germany). The MRI protocol included T2-weighted imaging (T2WI), diffusion-weighted imaging [D...
Source: Abdominal Imaging - Category: Radiology Source Type: research
We report a case of 63-year-old male, with renal clear cell carcinoma with lung metastasis who had cutaneo us metastasis to the fingertip which was confirmed by histopathological examination. Apart from its rarity, this clinical case adds another site of renal cell carcinoma metastasis to the present literature. The skin metastasis represents a widely disseminated state of the disease with a very guarded prognosis and limited life span after its diagnosis.
Source: Indian Journal of Surgical Oncology - Category: Cancer & Oncology Source Type: research
CONCLUSIONS.—: Eosinophilic cytoplasm is a feature shared by many kidney tumors. Understanding the morphologic differences and the role of ancillary studies is key when encountering such a tumor. PMID: 31403331 [PubMed - as supplied by publisher]
Source: Archives of Pathology and Laboratory Medicine - Category: Laboratory Medicine Authors: Tags: Arch Pathol Lab Med Source Type: research
This study identified 41  138 surgically treated RCC patients: Of these patients, 50.6% had right‐sided RCC, 59.5% were younger than 65 years of age, 63.8% were male, and 81.0% were Caucasian. The stage distribution was 67.0% (I), 9.5% (II), 17.1% (III), and 6.4% (IV). Patients with right‐sided RCC were more likely to have favorable clinicopathological features compared with patients with left‐sided RCC. In adjusted analyses, patients with right‐sided RCC showed significantly better CSS than those with left‐sided RCC within different subgroups including tumor size ≥10 cm (P = .004), age
Source: Cancer Medicine - Category: Cancer & Oncology Authors: Tags: ORIGINAL RESEARCH Source Type: research
Conclusion GX showed promising efficacy in patients with SRCC. GX could be considered as a treatment option for patients with SRCC and should be confirmed in larger clinical trials.
Source: Investigational New Drugs - Category: Drugs & Pharmacology Source Type: research
Clear cell renal cell carcinoma (ccRCC) is among the most aggressive histologic subtypes of kidney cancer, representing about 3% of all human cancers. Patients at stage IV have nearly 60% of mortality in 2–3 years after diagnosis. To date, most ccRCC studies have used DNA microarrays and targeted sequencing of a small set of well-established, commonly altered genes. An exception is the large multi-omics study of The Cancer Genome Atlas Kidney Renal Clear Cell Carcinoma (TCGA-KIRC), which identified new ccRCC genes based on whole exome-sequencing (WES) data, and molecular prognostic signatures based on transcriptomics...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
CONCLUSION: It was the first report in the world of such a case. PMID: 31061254 [PubMed - as supplied by publisher]
Source: Journal of Nippon Medical School - Category: Universities & Medical Training Authors: Tags: J Nippon Med Sch Source Type: research
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