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Basic Science and Molecular Oncology
Published in Manit Arya, Taimur T. Shah, Jas S. Kalsi, Herman S. Fernando, Iqbal S. Shergill, Asif Muneer, Hashim U. Ahmed, MCQs for the FRCS(Urol) and Postgraduate Urology Examinations, 2020
Paul Cleaveland, Vijay Sangar, Noel Clarke
Von Hippel-Lindau syndrome is an autosomal dominant condition associated with a spectrum of conditions including cerebellar and retinal haemangioblastomas, pancreatic cysts, renal cyst, phaeochromocytomas and renal cell carcinoma. Birt-Hogg-Dubé syndrome is an autosomal dominant condition associated with pulmonary cysts, fibrofolliculomas, oncocytomas, and chromophobe renal cell carcinoma. It is associated with a mutation in the FLCN tumour suppressor gene that codes for follicular on chromosome 17. Familial papillary renal cell carcinoma is an autosomal dominant condition associated with mutation in the c-MET gene on chromosome 7p31. It is associated with type 1 papillary renal cell carcinoma. Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant condition in which individuals are susceptible to developing cutaneous and uterine leiomyomas as well as type 2 papillary renal cell cancer. It is caused by gremlin mutations in the fumarate hydratase (FH) gene. Tuberous Sclerosis Complex is an autosomal dominant condition characterised by the formation of hamartomas in multiple organs leading to epilepsy, mental retardation and skin manifestations. There is an association with AMLs and renal cell carcinomas. Mutations in TSC1 encoding hamartin and TSC2 encoding tuberin are responsible for the phenotype.
Hereditary Leiomyomatosis and Renal Cell Cancer
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant cancer predisposition syndrome that typically presents with cutaneous leiomyoma, uterine leiomyoma (fibroids), and type 2 papillary renal cell carcinoma. Occasionally, other unusual forms of tumors (e.g., basal cell carcinoma and melanoma) may be observed.
Coupling of oxidative stress responses to tricarboxylic acid cycle and prostaglandin E2 alterations in Caenorhabditis elegans under extremely low-frequency electromagnetic field
Published in International Journal of Radiation Biology, 2018
Yongyan Sun, Zhenhua Shi, Yahong Wang, Chao Tang, Yanyan Liao, Chuanjun Yang, Peng Cai
Decreased fumarase expression, both in transcription and translation level in ELF-EMF exposed worms were identified in this study (Figure 1). Fumarase depression can affect hydrolysis of fumarate to malate and result in accumulation of fumarate which is indicated in our previous results (Shi et al. 2015). In recent researches, the fumarase has been regarded as a tumor suppressor gene whose heterozygous mutations predispose to hereditary leiomyomatosis and renal cell cancer (Lorenzato et al. 2008; Wang et al. 2016). Similar inhibitory regulation of fumarase has been reported to cause Mycobacterium tuberculosis hypersusceptible to oxidative stress (Ruecker et al. 2017). Induced oxidative stress by ELF-EMF exposure has been demonstrated in numerous organisms, including in human cells (Garip and Akan 2010) and rats (Bułdak et al. 2012), etc. Similar results of ROS elevation and depressed T-AOC were demonstrated in the following results of this study. Fumarate accumulation and fumarase deficiency can act as a response to oxidative stress induced by ELF-EMF exposure.