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Mutational analysis of MED12 exon 2 in uterine leiomyoma and other common tumors.
Int J Cancer. 2012 Sep 15; 131(6):E1044-7.IJ

Abstract

Recurrent somatic mutations in MED12 exon 2 have recently been reported in uterine leiomyomas. The recurrent nature of the mutations strongly suggests that the mutations may play important roles in the pathogenesis of uterine leiomyomas. The aim of our study was to see whether MED12 exon 2 mutations occur in other human tumors besides uterine leiomyomas. We also attempted to confirm occurrence of the MED12 mutations in uterine leiomyomas of Korean patients. For this, we analyzed 1,862 tumor tissues, including a variety of carcinomas, leukemias and stromal tumors by single-strand conformation polymorphism analysis. We found MED12 mutations in 35 uterine leiomyomas (35/67; 52.2%) and one colon carcinoma (0.3%), but none in other tumors. The MED12 mutations consisted of missense (77%) and inframe insertion-deletion (23%) mutations, the pattern of which was similar to the earlier report. Our data indicate that MED12 exon 2 mutations may be tissue-specific to uterine leiomyoma and rare in other tumors. Our study suggests that the MED12 mutations play unique roles in the pathogenesis of uterine leiomyomas and mutated MED12 could be therapeutically targeted in uterine leiomyomas.

Authors+Show Affiliations

Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22532225

Citation

Je, Eun Mi, et al. "Mutational Analysis of MED12 Exon 2 in Uterine Leiomyoma and Other Common Tumors." International Journal of Cancer, vol. 131, no. 6, 2012, pp. E1044-7.
Je EM, Kim MR, Min KO, et al. Mutational analysis of MED12 exon 2 in uterine leiomyoma and other common tumors. Int J Cancer. 2012;131(6):E1044-7.
Je, E. M., Kim, M. R., Min, K. O., Yoo, N. J., & Lee, S. H. (2012). Mutational analysis of MED12 exon 2 in uterine leiomyoma and other common tumors. International Journal of Cancer, 131(6), E1044-7. https://doi.org/10.1002/ijc.27610
Je EM, et al. Mutational Analysis of MED12 Exon 2 in Uterine Leiomyoma and Other Common Tumors. Int J Cancer. 2012 Sep 15;131(6):E1044-7. PubMed PMID: 22532225.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutational analysis of MED12 exon 2 in uterine leiomyoma and other common tumors. AU - Je,Eun Mi, AU - Kim,Mee Ran, AU - Min,Ki Ouk, AU - Yoo,Nam Jin, AU - Lee,Sug Hyung, Y1 - 2012/05/08/ PY - 2012/01/18/received PY - 2012/04/10/accepted PY - 2012/4/26/entrez PY - 2012/4/26/pubmed PY - 2013/3/12/medline SP - E1044 EP - 7 JF - International journal of cancer JO - Int. J. Cancer VL - 131 IS - 6 N2 - Recurrent somatic mutations in MED12 exon 2 have recently been reported in uterine leiomyomas. The recurrent nature of the mutations strongly suggests that the mutations may play important roles in the pathogenesis of uterine leiomyomas. The aim of our study was to see whether MED12 exon 2 mutations occur in other human tumors besides uterine leiomyomas. We also attempted to confirm occurrence of the MED12 mutations in uterine leiomyomas of Korean patients. For this, we analyzed 1,862 tumor tissues, including a variety of carcinomas, leukemias and stromal tumors by single-strand conformation polymorphism analysis. We found MED12 mutations in 35 uterine leiomyomas (35/67; 52.2%) and one colon carcinoma (0.3%), but none in other tumors. The MED12 mutations consisted of missense (77%) and inframe insertion-deletion (23%) mutations, the pattern of which was similar to the earlier report. Our data indicate that MED12 exon 2 mutations may be tissue-specific to uterine leiomyoma and rare in other tumors. Our study suggests that the MED12 mutations play unique roles in the pathogenesis of uterine leiomyomas and mutated MED12 could be therapeutically targeted in uterine leiomyomas. SN - 1097-0215 UR - https://www.unboundmedicine.com/medline/citation/22532225/Mutational_analysis_of_MED12_exon_2_in_uterine_leiomyoma_and_other_common_tumors_ L2 - https://doi.org/10.1002/ijc.27610 DB - PRIME DP - Unbound Medicine ER -