Journal ArticleDOI
Fumarate Hydratase (FH) c.1431_1433dupAAA (p.Lys477dup) variant is not associated with FH protein deficiency and increased 2SC in two separate patients with renal neoplasia
About:
This article is published in Human Mutation.The article was published on 2021-08-01. It has received 1 citations till now.read more
Citations
More filters
References
More filters
Journal ArticleDOI
Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.
Chiara Bardella,Mona El-Bahrawy,Norma Frizzell,Julie Adam,Nicola Ternette,Emine Hatipoglu,Kimberley Howarth,Linda O'Flaherty,Ian Roberts,Gareth D. H. Turner,Jennifer M. Taylor,Konstantinos Giaslakiotis,Valentine M. Macaulay,Adrian L. Harris,Ashish Chandra,Heli J. Lehtonen,Virpi Launonen,Lauri A. Aaltonen,Christopher W. Pugh,Radu Mihai,David C. Trudgian,Benedikt M. Kessler,John W. Baynes,Peter J. Ratcliffe,Ian Tomlinson,Patrick J. Pollard +25 more
TL;DR: It is shown that genetic ablation of FH causes high levels of protein succination, and the investigation of whether metabolites in other tumour types produce protein modification signature(s) that can be assayed using similar strategies will be of interest in future studies of cancer.
Journal ArticleDOI
Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry.
Ying-Bei Chen,A. Rose Brannon,Antoun Toubaji,Maria E. Dudas,Helen Won,Hikmat Al-Ahmadie,Samson W. Fine,Anuradha Gopalan,Norma Frizzell,Martin H. Voss,Paul Russo,Michael F. Berger,Satish K. Tickoo,Victor E. Reuter +13 more
TL;DR: The utility of detecting 2SC by immunohistochemistry in the differential diagnosis of HLRCC tumors and other high-grade renal tumors is explored and the correlation between 2SC staining and FH molecular alterations is investigated.
Journal ArticleDOI
New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.
Kiril Trpkov,Ondrej Hes,Sean R. Williamson,Adebowale J. Adeniran,Abbas Agaimy,Reza Alaghehbandan,Mahul B. Amin,Pedram Argani,Ying-Bei Chen,Liang Cheng,Jonathan I. Epstein,John C. Cheville,Eva Compérat,Isabela Werneck da Cunha,Jennifer B. Gordetsky,Sounak Gupta,Huiying He,Michelle S. Hirsch,Peter A. Humphrey,Payal Kapur,Fumiyoshi Kojima,José I. López,Fiona Maclean,Cristina Magi-Galluzzi,Jesse K. McKenney,Rohit Mehra,Santosh Menon,George J. Netto,Christopher G. Przybycin,Priya Rao,Qiu Rao,Victor E. Reuter,Rola Saleeb,Rajal B. Shah,Steven C. Smith,Satish K. Tickoo,Maria S. Tretiakova,Lawrence D. True,Virginie Verkarre,Sara E. Wobker,Ming Zhou,Anthony J. Gill,Anthony J. Gill,Anthony J. Gill +43 more
TL;DR: The authors in this article reviewed recent advances in renal neoplasia, particularly post-2016 World Health Organization (WHO) classification, to provide an update on existing entities, including diagnostic criteria, molecular correlates, and updated nomenclature.
Journal ArticleDOI
Incidence of succinate dehydrogenase and fumarate hydratase–deficient renal cell carcinoma based on immunohistochemical screening with SDHA/SDHB and FH/2SC
Sounak Gupta,Amy A. Swanson,Ying-Bei Chen,Tilcia Lopez,Dragana Milosevic,Benjamin R. Kipp,Bradley C. Leibovich,R. Houston Thompson,Loren Herrera-Hernandez,John C. Cheville,Rafael E. Jimenez +10 more
TL;DR: Results can help guide immunohistochemistry-based screening strategies for these tumors and lead to a genetic predisposition to hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated RCC.
Journal ArticleDOI
Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals.
Claire Forde,Derek Lim,Yousef Alwan,George J Burghel,Laura Butland,Ruth Cleaver,Abhijit Dixit,D. Gareth Evans,Helen Hanson,Fiona Lalloo,Pedro Oliveira,Lindsey Vialard,Yvonne Wallis,Eamonn R. Maher,Eamonn R. Maher,Eamonn R. Maher,Emma R. Woodward +16 more
TL;DR: It is shown that hereditary leiomyomatosis and renal cell cancer is associated with a 21% lifetime risk of renal cell carcinoma (RCC; 95% confidence interval 8.2-37.1), and renal imaging screening detects early-stage RCC.