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MED12 exon 2 mutations in uterine and extrauterine smooth muscle tumors.
Hum Pathol. 2014 Jan; 45(1):65-70.HP

Abstract

Mutations in exon 2 of the MED12 gene have been reported in 50% to 70% of uterine leiomyomas. To determine the frequency of MED12 mutations in various types of smooth muscle tumors as well as normal uterine myometrium adjacent to a leiomyoma, we selected a total of 143 cases for analysis of MED12 exon 2 mutations by polymerase chain reaction and Sanger sequencing. MED12 mutations were detected in 54% of classical uterine leiomyomas (15/28) and in 15% of cases in myometrium adjacent to leiomyomas (2/13); 34% of leiomyoma/leiomyomatosis in pelvic/retroperitoneal sites (10/29); 0% of extrauterine leiomyomas (0/29); 8% of smooth muscle tumor of uncertain malignant potential (1/12); 30% of uterine leiomyosarcomas (6/20); and 4% of extrauterine leiomyosarcomas (1/25). Mutations were clustered around codons 44, 40, 41, and 36, and consisted primarily of single nucleotide substitutions and small in-frame deletions. Our results confirm the findings of similar recent studies and further show that pelvic and retroperitoneal leiomyomas harbor an increased frequency of MED12 mutations (34%) as compared with other extrauterine sites (0%; P = 0.0006), and that histologically unremarkable adjacent myometrium can harbor similar MED12 mutations. These findings suggest that smooth muscle tumors in pelvic/retroperitoneal sites are subject to the same mutational changes as those of uterine myometrium, and that these mutations may precede the gross or histological development of a leiomyoma.

Authors+Show Affiliations

Department of Pathology, Washington University School of Medicine, St. Louis, MO 63110, USA.No affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

24196187

Citation

Schwetye, Katherine E., et al. "MED12 Exon 2 Mutations in Uterine and Extrauterine Smooth Muscle Tumors." Human Pathology, vol. 45, no. 1, 2014, pp. 65-70.
Schwetye KE, Pfeifer JD, Duncavage EJ. MED12 exon 2 mutations in uterine and extrauterine smooth muscle tumors. Hum Pathol. 2014;45(1):65-70.
Schwetye, K. E., Pfeifer, J. D., & Duncavage, E. J. (2014). MED12 exon 2 mutations in uterine and extrauterine smooth muscle tumors. Human Pathology, 45(1), 65-70. https://doi.org/10.1016/j.humpath.2013.08.005
Schwetye KE, Pfeifer JD, Duncavage EJ. MED12 Exon 2 Mutations in Uterine and Extrauterine Smooth Muscle Tumors. Hum Pathol. 2014;45(1):65-70. PubMed PMID: 24196187.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MED12 exon 2 mutations in uterine and extrauterine smooth muscle tumors. AU - Schwetye,Katherine E, AU - Pfeifer,John D, AU - Duncavage,Eric J, Y1 - 2013/11/04/ PY - 2013/05/24/received PY - 2013/08/08/revised PY - 2013/08/09/accepted PY - 2013/11/8/entrez PY - 2013/11/8/pubmed PY - 2014/2/5/medline KW - Leiomyoma KW - Leiomyosarcoma KW - MED12 KW - Smooth muscle SP - 65 EP - 70 JF - Human pathology JO - Hum. Pathol. VL - 45 IS - 1 N2 - Mutations in exon 2 of the MED12 gene have been reported in 50% to 70% of uterine leiomyomas. To determine the frequency of MED12 mutations in various types of smooth muscle tumors as well as normal uterine myometrium adjacent to a leiomyoma, we selected a total of 143 cases for analysis of MED12 exon 2 mutations by polymerase chain reaction and Sanger sequencing. MED12 mutations were detected in 54% of classical uterine leiomyomas (15/28) and in 15% of cases in myometrium adjacent to leiomyomas (2/13); 34% of leiomyoma/leiomyomatosis in pelvic/retroperitoneal sites (10/29); 0% of extrauterine leiomyomas (0/29); 8% of smooth muscle tumor of uncertain malignant potential (1/12); 30% of uterine leiomyosarcomas (6/20); and 4% of extrauterine leiomyosarcomas (1/25). Mutations were clustered around codons 44, 40, 41, and 36, and consisted primarily of single nucleotide substitutions and small in-frame deletions. Our results confirm the findings of similar recent studies and further show that pelvic and retroperitoneal leiomyomas harbor an increased frequency of MED12 mutations (34%) as compared with other extrauterine sites (0%; P = 0.0006), and that histologically unremarkable adjacent myometrium can harbor similar MED12 mutations. These findings suggest that smooth muscle tumors in pelvic/retroperitoneal sites are subject to the same mutational changes as those of uterine myometrium, and that these mutations may precede the gross or histological development of a leiomyoma. SN - 1532-8392 UR - https://www.unboundmedicine.com/medline/citation/24196187/MED12_exon_2_mutations_in_uterine_and_extrauterine_smooth_muscle_tumors_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0046-8177(13)00338-9 DB - PRIME DP - Unbound Medicine ER -