MED12 mutations occurring in benign and malignant mammalian smooth muscle tumors

Genes Chromosomes and Cancer

Volumn 52, Issue 3, 2013, Pages 297-304

  Markowski, Dominique Nadine ^a   Huhle, Sonja ^b   Nimzyk, Rolf ^a   Stenman, Göran ^c   Löning, Thomas ^b   Bullerdiek, Jörn ^a  

^a UNIVERSITY OF BREMEN   (Germany)

^b ALBERTINEN KRANKENHAUS   (Germany)

^c UNIVERSITY OF GOTHENBURG   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; BENIGN TUMOR; CANINE GENITAL LEIOMYOMA; CLINICAL ARTICLE; EXTRAUTERINE LEIOMYOMA; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; LEIOMYOSARCOMA; MEDIATOR SUBCOMPLEX 12 GENE; PRIORITY JOURNAL; UTERUS SARCOMA;

AGED; AGED, 80 AND OVER; ANIMALS; BASE SEQUENCE; BREAST NEOPLASMS; DOGS; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; HMGA2 PROTEIN; HUMANS; LEIOMYOMA; LEIOMYOSARCOMA; MAMMARY NEOPLASMS, ANIMAL; MEDIATOR COMPLEX; MIDDLE AGED; MUTATION; NEOPLASM GRADING; RNA, MESSENGER; SMOOTH MUSCLE TUMOR;

MAMMALIA; PRIMATES;

EID: 84872419881     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.22029     Document Type: Article

References (22)

1. Ashar HR, Fejzo MS, Tkachenko A, Zhou X, Fletcher JA, Weremowicz S, Morton CC, Chada K. 1995. Disruption of the architectural factor HMGI-C: DNA-binding AT hook motifs fused in lipomas to distinct transcriptional regulatory domains. Cell 82: 57-65.
2. Barbieri CE, Baca SC, Lawrence MS, Demichelis F, Blattner M, Theurillat JP, White TA, Stojanov P, Van Allen E, Stransky N, Nickerson E, Chae SS, Boysen G, Auclair D, Onofrio RC, Park K, Kitabayashi N, MacDonald TY, Sheikh K, Vuong T, Guiducci C, Cibulskis K, Sivachenko A, Carter SL, Saksena G, Voet D, Hussain WM, Ramos AH, Winckler W, Redman MC, Ardlie K, Tewari AK, Mosquera JM, Rupp N, Wild PJ, Moch H, Morrissey C, Nelson PS, Kantoff PW, Gabriel SB, Golub TR, Meyerson M, Lander ES, Getz G, Rubin MA, Garraway LA. 2012. Exome sequencing identifies recurrent SPOP, FOXA1, and MED12 mutations in prostate cancer. Nat Genet 44: 685-689.
3. Canevari RA, Pontes A, Rosa FE, Rainho CA, Rogatto SR. 2005. Independent clonal origin of multiple uterine leiomyomas that was determined by X chromosome inactivation and microsatellite analysis. Am J Obstet Gynecol 193: 1395-1403.
4. Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion. Hum Mutat 15: 7-12.
5. Je EM, Kim MR, Min KO, Yoo NJ, Lee SH. 2012. Mutational analysis of MED12 exon 2 in uterine leiomyoma and other common tumors. Int J Cancer doi:10.1002/ijc.27610.
6. Helmke BM, Markowski DN, Müller MH, Sommer A, Müller J, Möller C, Bullerdiek J. 2011. HMGA proteins regulate the expression of FGF2 in uterine fibroids. Mol Hum Reprod 17: 135-142.
7. Hennig Y, Wanschura S, Deichert U, Bartnitzke S, Bullerdiek J. 1996. Rearrangements of the high mobility group protein family genes and the molecular genetic origin of uterine leiomyomas and endometrial polyps. Mol Hum Reprod 2: 277-283.
8. Kim S, Xu X, Hecht A, Boyer TG. 2006. Mediator is a transducer of Wnt/beta-catenin signaling. J Biol Chem 281: 14066-14075.
9. Klemke M, Meyer A, Nezhad MH, Bartnitzke S, Drieschner N, Frantzen C, Schmidt EH, Belge G, Bullerdiek J. 2009. Overexpression of HMGA2 in uterine leiomyomas points to its general role for the pathogenesis of the disease. Genes Chromosomes Cancer 48: 171-178.
10. Laughlin SK, Schroeder JC, Baird DD. 2010. New directions in the epidemiology of uterine fibroids. Semin Reprod Med 28: 204-217.
11. Mäkinen N, Heinonen HR, Moore S, Tomlinson IP, van der Spuy ZM, Aaltonen LA. 2011a. MED12 exon 2 mutations are common in uterine leiomyomas from South African patients. Oncotarget 2: 966-969.
12. Mäkinen N, Mehine M, Tolvanen J, Kaasinen E, Li Y, Lehtonen HJ, Gentile M, Yan J, Enge M, Taipale M, Aavikko M, Katainen R, Virolainen E, Böhling T, Koski TA, Launonen V, Sjöberg J, Taipale J, Vahteristo P, Aaltonen LA. 2011b. MED12, the mediator complex subunit 12 gene, is mutated at high frequency in UL. Science 334: 252-255.
13. Markowski DN, von Ahsen I, Nezhad MH, Wosniok W, Helmke BM, Bullerdiek J. 2010. HMGA2 and the p19Arf-TP53-CDKN1A axis: a delicate balance in the growth of uterine leiomyomas. Genes Chromosomes Cancer 49: 661-668.
14. Markowski DN, Bartnitzke S, Löning T, Drieschner N, Helmke BM, Bullerdiek J. 2012. MED12 mutations in uterine fibroids-their relationship to cytogenetic subgroups. Int J Cancer 131: 1528-1536.
15. Mashal RD, Fejzo ML, Friedman AJ, Mitchner N, Nowak RA, Rein MS, Morton CC, Sklar J. 1994. Analysis of androgen receptor DNA reveals the independent clonal origins of uterine leiomyomata and the secondary nature of cytogenetic aberrations in the development of leiomyomata. Genes Chromosomes Cancer 11: 1-6.
16. McGuire MM, Yatsenko A, Hoffner L, Jones M, Surti U, Rajkovic A. 2012. Whole exome sequencing in a random sample of North American women with leiomyomas identifies MED12 mutations in majority of uterine leiomyomas. PLoS One 7: e33251.
17. Schoenmakers EF, Wanschura S, Mols R, Bullerdiek J, Van den Berghe H, Van de Ven WJ. 1995. Recurrent rearrangements in the high mobility group protein gene, HMGI-C, in benign mesenchymal tumours. Nat Genet 10: 436-444.
18. Specht K, Richter T, Müller U, Walch A, Werner M, Höfler H. 2001. Quantitative gene expression analysis in microdissected archival formalin-fixed and paraffin-embedded tumor tissue. Am J Pathol 158: 419-429.
19. Pérot G, Croce S, Ribeiro A, Lagarde P, Velasco V, Neuville A, Coindre JM, Stoeckle E, Floquet A, MacGrogan G, Chibon F. 2012. MED12 alterations in both human benign and malignant uterine soft tissue tumors. PLoS One 7: e40015.
20. Philibert RA, Madan A. 2007. Role of MED12 in transcription and human behavior. Pharmacogenomics 8: 909-916.
21. Sycamore KF, Julian AF. 2011. Lipoleiomyoma of the reproductive tract in a Huntaway bitch. N Z Vet J 59: 244-247.
22. Winkler S, Murua Escobar H, Meyer B, Simon D, Eberle N, Baumgartner W, Loeschke S, Nolte I, Bullerdiek J. 2007. HMGA2 expression in a canine model of prostate cancer. Cancer Genet Cytogenet 177: 98-102.