Fumarate hydratase (FH) deficiency in uterine leiomyomas: recognition by histological features versus blind immunoscreening

Author:

Siegler Lisa,Erber Ramona,Burghaus Stefanie,Brodkorb Tobias,Wachter David,Wilkinson Nafisa,Bolton James,Stringfellow Helen,Haller Florian,Beckmann Matthias W.,Hartmann Arndt,Agaimy Abbas

Publisher

Springer Science and Business Media LLC

Subject

Cell Biology,Molecular Biology,General Medicine,Pathology and Forensic Medicine

Reference32 articles.

1. Wei MH, Toure O, Glenn GM, Pithukpakorn M, Neckers L, Stolle C, Choyke P, Grubb R, Middelton L, Turner ML, Walther MM, Merino MJ, Zbar B, Linehan WM, Toro JR (2006) Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet 43(1):18–27. https://doi.org/10.1136/jmg.2005.033506

2. Smit DL, Mensenkamp AR, Badeloe S, Breuning MH, Simon MEH, van Spaendonck KY, Aalfs CM, Post JG, Shanley S, Krapels IPC, Hoefsloot LH, van Moorselaar RJA, Starink TM, Bayley JP, Frank J, van Steensel MAM, Menko FH (2011) Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. Clin Genet 79(1):49–59. https://doi.org/10.1111/j.1399-0004.2010.01486.x

3. Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E, Sistonen P, Herva R, Aaltonen LA (2001) Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci U S A 98(6):3387–3392. https://doi.org/10.1073/pnas.051633798

4. Martinez-Mir A, Glaser B, S. Chuang G, Horev L, Waldman A, Engler DE, Gordon D, Spelman LJ, Hatzibougias I, Green J, Christiano AM, Zlotogorski A (2003) Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. J Investig Dermatol 121(4):741–744. https://doi.org/10.1046/j.1523-1747.2003.12499.x

5. Chuang GS, Martinez-Mir A, Geyer A, Engler DE, Glaser B, Cserhalmi-Friedman PB, Gordon D, Horev L, Lukash B, Herman E, Cid MP, Brenner S, Landau M, Sprecher E, Garcia Muret MP, Christiano AM, Zlotogorski A (2005) Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. J Am Acad Dermatol 52(3):410–416. https://doi.org/10.1016/j.jaad.2004.08.051

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