Everolimus Reduces Size of Noncancerous Kidney Tumors

The mTOR inhibitor everolimus (Afinitor) has been found to significantly reduce the size of angiomyolipomas, the slow-growing benign tumors commonly associated with tuberous sclerosis complex (TSC) and sporadic lymphangioleiomyomatosis, according to the results of the phase III EXIST-2 study.
Source: Cancer Network - Category: Cancer & Oncology Source Type: news

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This study suggests that features of Tuberous sclerosis especially when overlapping with those of Neurofibromatosis 1 or malignancies atypical for these syndromes should raise the possibility of constitutional mismatch repair deficiency. Correct diagnosis is essential for appropriate genetic counselling and pre-emptive cancer surveillance. This article is protected by copyright. All rights reserved. PMID: 31730237 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
Tuberous sclerosis complex (TSC) is characterized by tumor development in the brain, heart, kidney, and lungs. In TSC tumors, loss of the TSC1/TSC2 protein complex leads to activation of mTORC1 with downstream effects on anabolism and cell growth. Because mTORC1 activation enhances mRNA transcription, we hypothesized that aberrant mTORC1 activation might confer TSC-null cell dependence on transcriptional regulation. We demonstrate that TSC1- or TSC2-null cells, in contrast to their wild-type counterparts, are sensitive to pharmacological inhibition of CDK7. Mechanistic studies revealed that CDK7 inhibition markedly reduces...
Source: The Journal of Experimental Medicine - Category: Internal Medicine Authors: Tags: Solid Tumors Articles Source Type: research
Authors: Woodford MR, Hughes M, Sager RA, Backe SJ, Baker-Williams AJ, Bratslavsky MS, Jacob JM, Shapiro O, Wong M, Bratslavsky G, Bourboulia D, Mollapour M Abstract The molecular chaperone Heat shock protein 90 (Hsp90) is essential for the folding, stability, and activity of several drivers of oncogenesis. Hsp90 inhibitors are currently under clinical evaluation for cancer treatment, however their efficacy is limited by lack of biomarkers to optimize patient selection. We have recently identified the tumor suppressor tuberous sclerosis complex 1 (Tsc1) as a new co-chaperone of Hsp90 that affects Hsp90 binding to i...
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
Abstract BACKGROUND: The quality of life (QoL) of patients with Tuberous Sclerosis Complex (TSC) has not been studied before. We aimed to investigate the impact of the disease on QoL. We studied the QoL of 91 TSC patients who have attended the Bath TSC clinic, UK over 6 months. QoL was evaluated using the PedsQL for children, and SF-36 for adults. RESULTS: Impaired QoL is found in all patients with TSC regardless of the presence of epilepsy and learning disabilities (LD). Total mean self-reported score for children was 71 out of 100, compared to a UK norm of 84, p 
Source: European Journal of Paediatric Neurology - Category: Neurology Authors: Tags: Eur J Paediatr Neurol Source Type: research
present with characteristic findings on the skin, central or peripheral nervous system, and tumors. Neurofibromatosis type 1 is the most common syndrome and is characterized by Caf é-au-lait macules, intertriginous freckling, Lisch nodules, and tumors including neurofibromas, malignant peripheral nerve sheath tumors, and gliomas. Tuberous Sclerosis Complex is characterized by benign hamartomas presenting with hypomelanotic macules, shagreen patches, angiofibromas, confetti le sions and tumors including cortical tubers, subependymal nodules, subependymal giant cell astrocytomas and tumors of the kidney, lung, and he...
Source: Dermatologic Clinics - Category: Dermatology Authors: Source Type: research
AbstractHereditary renal cell carcinoma syndromes (HRCCS) are characterized by the presence of pathogenic germline variants that predispose patients to renal cell carcinomas as well as additional extra-renal manifestations. The importance of identifying HRCCS patients cannot be overemphasized, as patients and their families can begin surveillance for syndrome-associated manifestations once identified. The present study is a retrospective clinical and morphologic review of 60 hereditary renal tumors from 30 HRCCS patients treated at our institution with either Von Hippel-Lindau disease (VHL), Birt-Hogg-Dub é syndrome...
Source: Medical Oncology - Category: Cancer & Oncology Source Type: research
Conclusions5-Aza-CdR can increase hypoxia tolerance by inducing autophagy by initiating the TSC1/mTOR pathway.
Source: Biomedicine and Pharmacotherapy - Category: Drugs & Pharmacology Source Type: research
CONCLUSIONS: 5-Aza-CdR can increase hypoxia tolerance by inducing autophagy by initiating the TSC1/mTOR pathway. PMID: 31325707 [PubMed - as supplied by publisher]
Source: Biomedicine and pharmacotherapy = Biomedecine and pharmacotherapie - Category: Drugs & Pharmacology Authors: Tags: Biomed Pharmacother Source Type: research
Conclusions SNPs on chromosome 15q26.2 are associated with S-LAM, and chromatin and expression data suggest that this association may occur through effects on NR2F2 expression, which potentially plays an important role in S-LAM development.
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Interstitial and orphan lung disease Original Articles: Interstitial lung disease and rare lung disease Source Type: research
In this study, we report hybrid cells with epithelial and mesenchymal features in angiomyolipomas and partial EMT in carcinomas from TSC patients and describe a new model of EMT activation during tumor progression from cyst to papillary adenoma to solid carcinoma in the kidneys of Tsc2+/- mice. Features of EMT occurred infrequently in TSC-associated cysts but increased as the lesions progressed through papillary adenoma to solid carcinoma where epithelial-mesenchymal hybrid cells were abundant, indicating partial EMT. We also compared the effects of the novel ATP-competitive mTOR inhibitor AZD2014 with the allosteric mTOR ...
Source: Neoplasia - Category: Cancer & Oncology Authors: Tags: Neoplasia Source Type: research
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