Comprehensive Analysis of Copy Number Variations in Kidney Cancer by Single-Cell Exome Sequencing

Clear-cell renal cell carcinoma (ccRCC) is the most common and lethal subtype of kidney cancer. VHL and PBRM1 are the top two significantly mutated genes in ccRCC specimens, while the genetic mechanism of the VHL/PBRM1-negative ccRCC remains to be elucidated. Here we carried out a comprehensive analysis of single-cell genomic copy number variations (CNVs) in VHL/PBRM1-negative ccRCC. Genomic CNVs were identified at the single-cell level, and the tumor cells showed widespread amplification and deletion across the whole genome. Functional enrichment analysis indicated that the amplified genes are significantly enriched in cancer-related signaling transduction pathways. Besides, receptor protein tyrosine kinase (RTK) genes also showed widespread copy number variations in cancer cells. Our studies indicated that the genomic CNVs in RTK genes and downstream signaling transduction pathways may be involved in VHL/PBRM1-negative ccRCC pathogenesis and progression, and highlighted the role of the comprehensive investigation of genomic CNVs at the single-cell level in both clarifying pathogenic mechanism and identifying potential therapeutic targets in cancers.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research

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oos Brüne Jung Accumulating evidence suggests that iron homeostasis is disturbed in tumors. We aimed at clarifying the distribution of iron in renal cell carcinoma (RCC). Considering the pivotal role of macrophages for iron homeostasis and their association with poor clinical outcome, we investigated the role of macrophage-secreted iron for tumor progression by applying a novel chelation approach. We applied flow cytometry and multiplex-immunohistochemistry to detect iron-dependent markers and analyzed iron distribution with atomic absorption spectrometry in patients diagnosed with RCC. We further analyzed ...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
In this study, we first evaluated the expression and prognostic values of sirtuins in multiple cancer cohorts using publicly available TCGA pan-cancer datasets. Pan-cancer survival analysis indicated that 6 out of 7 sirtuin family members were significant associated with prognosis of clear cell renal cell carcinoma (KIRC) patients. SIRT1, SIRT3, SIRT4, and SIRT5 were associated with favorable prognosis of KIRC patients, while SIRT6 and SIRT7 were associated with unfavorable prognosis. The expression levels of SIRT4 and SIRT5 in KIRC tissues were lower than that in normal tissues, while SIRT6 and SIRT7 were higher in KIRC t...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
The United States Public Health Service Flag Promotion ceremony for Rear Admiral (RADM) Richard W. Childs, promoted to RADM Upper Half O-8 in January 2020, is being webcast live on 3/27/2020 from Masur Auditorium. Richard Childs, MD serves as the Clinical Director of the National Heart, Lung, and Blood Institute (NHLBI) at the National Institutes of Health (NIH). He was commissioned in the USPHS Commissioned Corps as a Lieutenant in 1995 when joined the NCI as an Oncology Fellow. Following fellowship training, he was appointed a tenure-track investigator in the Hematology Branch of the NHLBI where he continues to conduct r...
Source: Videocast - All Events - Category: General Medicine Tags: Upcoming Events Source Type: video
Publication date: Available online 24 February 2020Source: Respiratory Medicine Case ReportsAuthor(s): Takayasu Ito, Shotaro Okachi, Tadasuke Ikenouchi, Futoshi Ushijima, Takamasa Ohashi, Masahiro Ogawa, Masato Nagahama, Keiko Wakahara, Naozumi HashimotoAbstractA 65-year-old man with chronic respiratory failure caused by chronic obstructive pulmonary disease, had a pulmonary nodule adjacent to the inlet of right B1 and B3. The patient had undergone a surgery for right renal cell carcinoma and colon cancer 6 years prior. We attempted endobronchial ultrasound-guided transbronchial needle aspiration under non-invasive positiv...
Source: Respiratory Medicine Case Reports - Category: Respiratory Medicine Source Type: research
Bone metastasis is known to occur in some patients with cancer, usually in the spine, pelvis or ribs, and less than 0.01% of patients have metastases in the foot bone, so metatarsal metastasis is quite rare. T...
Source: BMC Urology - Category: Urology & Nephrology Authors: Tags: Case report Source Type: research
ConclusionDespite malignant disease, overall survival of patients after metastasectomy for pancreatic metastasis is acceptable. Better survival appears to be associated with the primary tumor entity. Further research should focus on molecular markers to elucidate the mechanisms of pancreatic metastasis to choose the suitable therapeutic approach for the individual patient.
Source: Clinical and Experimental Metastasis - Category: Cancer & Oncology Source Type: research
acute;pez Renal cell carcinoma (RCC) ranks in the top‐ten list of malignancies both in males and females [...]
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Editorial Source Type: research
ConclusionsThe single-port approach has advantages as easier surgical planning and transition for combined and multi-quadrants surgeries: faster recovery, minimal postoperative pain and need for opioids, and excellent cosmetic outcome. We suggest that combined procedures should be performed only in high volume institutions by surgeons with vast experience in robotic surgery in selected patients.ResumenIntroducciónPresentar el primer caso de cirugía multicuadrante concomitante —prostatectomía radical robótica y nefrectomía parcial robótica izquierda— realizadas con t&eac...
Source: Actas Urologicas Espanolas - Category: Urology & Nephrology Source Type: research
Publication date: Available online 21 February 2020Source: Urology Case ReportsAuthor(s): Irzi Mohamed, EL Houmaidi Amine, Mhanna Tarik, Ouraghi Abdelghani, Alaoui Mhammedi wassim, Barki AliAbstractUsual location of metastasis are in renal cell carcinoma (RCC) the lung, liver, bone, adrenal and brain. Here we report on an unusual case of a 76-year-old male with a solitary sternal metastasis as an initial presentation of clear-cell RCC.The management of metastatic kidney cancer has been disrupted over the last decade by the emergence of new treatments and the progress of surgery and ablative techniques.the Carmena study sug...
Source: Urology Case Reports - Category: Urology & Nephrology Source Type: research
ConclusionThe inclusion of 2LPV to the classification according to VP1N improves the discriminating capacity of RRG classification.ResumenIntroducciónNo existe consenso sobre el seguimiento tras nefrectomía por cáncer renal (CCR), siendo necesario establecer grupos de riesgo de recurrencia(GRR).Material y métodoAnálisis retrospectivo de 696 pacientes con CCR intervenidos entre 1990-2010;568(81.6%)pacientes con nefrectomía radical y 128(18.4%) con nefrectomía parcial.Se clasificaron las variables patológicas como variables de 1ernivel(VP1N): estadio pTpN y grado de Fur...
Source: Actas Urologicas Espanolas - Category: Urology & Nephrology Source Type: research
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