MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas

Author:

Kämpjärvi Kati,Mäkinen Netta,Mehine Miika,Välipakka Salla,Uimari Outi,Pitkänen Esa,Heinonen Hanna-Riikka,Heikkinen Tuomas,Tolvanen Jaana,Ahtikoski Anne,Frizzell Norma,Sarvilinna Nanna,Sjöberg Jari,Bützow Ralf,Aaltonen Lauri A,Vahteristo Pia

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Oncology

Reference26 articles.

1. Bardella C, El-Bahrawy M, Frizzell N, Adam J, Ternette N, Hatipoglu E, Howarth K, O'Flaherty L, Roberts I, Turner G, Taylor J, Giaslakiotis K, Macaulay VM, Harris AL, Chandra A, Lehtonen HJ, Launonen V, Aaltonen LA, Pugh CW, Mihai R, Trudgian D, Kessler B, Baynes JW, Ratcliffe PJ, Tomlinson IP, Pollard PJ (2011) Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status. J Pathol 225: 4–11.

2. Bayley JP, Launonen V, Tomlinson IP (2008) The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet 9: 20.

3. Bertsch E, Qiang W, Zhang Q, Espona-Fiedler M, Druschitz S, Liu Y, Mittal K, Kong B, Kurita T, Wei JJ (2014) MED12 and HMGA2 mutations: two independent genetic events in uterine leiomyoma and leiomyosarcoma. Mod Pathol 27: 1144–1153.

4. Day Baird D, Dunson DB, Hill MC, Cousins D, Schectman JM (2003) High cumulative incidence of uterine leiomyoma in black and white women: ultrasound evidence. Am J Obstet Gynecol 188: 100–107.

5. Harrison WJ, Andrici J, Maclean F, Madadi-Ghahan R, Farzin M, Sioson L, Toon CW, Clarkson A, Watson N, Pickett J, Field M, Crook A, Tucker K, Goodwin A, Anderson L, Srinivasan B, Grossmann P, Martinek P, Ondic O, Hes O, Trpkov K, Clifton-Bligh RJ, Dwight T, Gill AJ (2015) Fumarate hydratase-deficient uterine leiomyomas occur in both the syndromic and sporadic settings. Am J Surg Pathol 40 (5): 599–607.

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