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MED12 mutations in leiomyosarcoma and extrauterine leiomyoma.
Mod Pathol. 2013 May; 26(5):743-9.MP

Abstract

Leiomyoma and leiomyosarcoma share morphological features and smooth muscle differentiation, and both arise most frequently within the uterine corpus of middle-aged women. However, they are considered biologically unrelated tumors due to their disparate clinical, cytogenetic, and molecular features. MED12, the mediator complex subunit 12 gene, has been recently implicated as an oncogene in as many as 70% of sporadic uterine leiomyoma. In the present study, we show MED12 hotspot exon 2 mutations in extrauterine leiomyoma (3 of 19 cases) and in leiomyosarcoma (3 of 13 uterine cases). We also show that MED12 mutations are found in both primary and metastatic leiomyosarcoma. Immunoblotting studies demonstrated MED12 protein expression in 100% of leiomyomas (13) and leiomyosarcomas (20), irrespective of MED12 exon 2 mutation status or histological grade. These findings indicate that MED12 has oncogenic roles in a broad range of smooth muscle neoplasia, including tumors arising in extrauterine locations.

Authors+Show Affiliations

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo 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

23222489

Citation

Ravegnini, Gloria, et al. "MED12 Mutations in Leiomyosarcoma and Extrauterine Leiomyoma." Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, vol. 26, no. 5, 2013, pp. 743-9.
Ravegnini G, Mariño-Enriquez A, Slater J, et al. MED12 mutations in leiomyosarcoma and extrauterine leiomyoma. Mod Pathol. 2013;26(5):743-9.
Ravegnini, G., Mariño-Enriquez, A., Slater, J., Eilers, G., Wang, Y., Zhu, M., Nucci, M. R., George, S., Angelini, S., Raut, C. P., & Fletcher, J. A. (2013). MED12 mutations in leiomyosarcoma and extrauterine leiomyoma. Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 26(5), 743-9. https://doi.org/10.1038/modpathol.2012.203
Ravegnini G, et al. MED12 Mutations in Leiomyosarcoma and Extrauterine Leiomyoma. Mod Pathol. 2013;26(5):743-9. PubMed PMID: 23222489.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MED12 mutations in leiomyosarcoma and extrauterine leiomyoma. AU - Ravegnini,Gloria, AU - Mariño-Enriquez,Adrian, AU - Slater,Jaime, AU - Eilers,Grant, AU - Wang,Yuexiang, AU - Zhu,Meijun, AU - Nucci,Marisa R, AU - George,Suzanne, AU - Angelini,Sabrina, AU - Raut,Chandrajit P, AU - Fletcher,Jonathan A, Y1 - 2012/12/07/ PY - 2012/12/11/entrez PY - 2012/12/12/pubmed PY - 2013/12/16/medline SP - 743 EP - 9 JF - Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc JO - Mod. Pathol. VL - 26 IS - 5 N2 - Leiomyoma and leiomyosarcoma share morphological features and smooth muscle differentiation, and both arise most frequently within the uterine corpus of middle-aged women. However, they are considered biologically unrelated tumors due to their disparate clinical, cytogenetic, and molecular features. MED12, the mediator complex subunit 12 gene, has been recently implicated as an oncogene in as many as 70% of sporadic uterine leiomyoma. In the present study, we show MED12 hotspot exon 2 mutations in extrauterine leiomyoma (3 of 19 cases) and in leiomyosarcoma (3 of 13 uterine cases). We also show that MED12 mutations are found in both primary and metastatic leiomyosarcoma. Immunoblotting studies demonstrated MED12 protein expression in 100% of leiomyomas (13) and leiomyosarcomas (20), irrespective of MED12 exon 2 mutation status or histological grade. These findings indicate that MED12 has oncogenic roles in a broad range of smooth muscle neoplasia, including tumors arising in extrauterine locations. SN - 1530-0285 UR - https://www.unboundmedicine.com/medline/citation/23222489/MED12_mutations_in_leiomyosarcoma_and_extrauterine_leiomyoma_ L2 - http://dx.doi.org/10.1038/modpathol.2012.203 DB - PRIME DP - Unbound Medicine ER -