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Frequency and Spectrum of MED12 Exon 2 Mutations in Multiple Versus Solitary Uterine Leiomyomas From Russian Patients.
Int J Gynecol Pathol. 2016 Nov; 35(6):509-515.IJ

Abstract

Uterine leiomyomas (ULs) are common benign tumors affecting women of different ethnicities. A large proportion of UL has mutations in MED12. Multiple and solitary ULs usually manifest with different severities, suggesting that their origin and growth pattern may be driven by different molecular mechanisms. Here, we compared the frequency and the spectrum of MED12 exon 2 mutations between multiple (n=82) and solitary (n=40) ULs from Russian patients. Overall, we detected MED12 exon 2 mutations in 51.6% (63/122) of ULs. The frequency of MED12 exon 2 mutations was almost two-fold higher in samples from the multiple UL patients than in those from the solitary UL patients - 61% (50/82) versus 32.5% (13/40). The increased MED12 exon 2 mutation frequency in the multiple ULs was not accompanied by significant alterations in the spectrum of mutation categories, which included missense mutations, deletions, splicing defects, and multiple (double/triple) mutations. Each mutation category had a unique mutation set, comprising both frequent and rarely encountered mutations, which did and did not overlap between the studied groups, respectively. We conclude that in contrast to the solitary ULs, the multiple ULs predominantly originate through MED12-associated mechanisms. The nature of these mechanisms seems to be similar in solitary and multiple ULs, as they contain similar mutations. In multiple UL patients, they are likely to be nonsporadic, indicating the existence of specific factors predisposing to multiple UL development. These data suggest that to clearly understand UL pathogenesis, solitary and multiple tumors should probably be analyzed as separate sets.

Authors+Show Affiliations

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology (N.S.O., O.V.M., N.Y.S., T.E.I., I.Y.S., O.A.E., M.I.Y., V.S.B.) St. Petersburg State University (O.A.E., V.S.B.) Pavlov First St. Petersburg State Medical University (V.F.B.), St. Petersburg, Russia.No 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

Language

eng

PubMed ID

26630226

Citation

Osinovskaya, Natalia S., et al. "Frequency and Spectrum of MED12 Exon 2 Mutations in Multiple Versus Solitary Uterine Leiomyomas From Russian Patients." International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, vol. 35, no. 6, 2016, pp. 509-515.
Osinovskaya NS, Malysheva OV, Shved NY, et al. Frequency and Spectrum of MED12 Exon 2 Mutations in Multiple Versus Solitary Uterine Leiomyomas From Russian Patients. Int J Gynecol Pathol. 2016;35(6):509-515.
Osinovskaya, N. S., Malysheva, O. V., Shved, N. Y., Ivashchenko, T. E., Sultanov, I. Y., Efimova, O. A., Yarmolinskaya, M. I., Bezhenar, V. F., & Baranov, V. S. (2016). Frequency and Spectrum of MED12 Exon 2 Mutations in Multiple Versus Solitary Uterine Leiomyomas From Russian Patients. International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 35(6), 509-515.
Osinovskaya NS, et al. Frequency and Spectrum of MED12 Exon 2 Mutations in Multiple Versus Solitary Uterine Leiomyomas From Russian Patients. Int J Gynecol Pathol. 2016;35(6):509-515. PubMed PMID: 26630226.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Frequency and Spectrum of MED12 Exon 2 Mutations in Multiple Versus Solitary Uterine Leiomyomas From Russian Patients. AU - Osinovskaya,Natalia S, AU - Malysheva,Olga V, AU - Shved,Natalia Yu, AU - Ivashchenko,Tatyana E, AU - Sultanov,Iskender Yu, AU - Efimova,Olga A, AU - Yarmolinskaya,Maria I, AU - Bezhenar,Vitaly F, AU - Baranov,Vladislav S, PY - 2015/12/3/pubmed PY - 2017/4/6/medline PY - 2015/12/3/entrez SP - 509 EP - 515 JF - International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists JO - Int J Gynecol Pathol VL - 35 IS - 6 N2 - Uterine leiomyomas (ULs) are common benign tumors affecting women of different ethnicities. A large proportion of UL has mutations in MED12. Multiple and solitary ULs usually manifest with different severities, suggesting that their origin and growth pattern may be driven by different molecular mechanisms. Here, we compared the frequency and the spectrum of MED12 exon 2 mutations between multiple (n=82) and solitary (n=40) ULs from Russian patients. Overall, we detected MED12 exon 2 mutations in 51.6% (63/122) of ULs. The frequency of MED12 exon 2 mutations was almost two-fold higher in samples from the multiple UL patients than in those from the solitary UL patients - 61% (50/82) versus 32.5% (13/40). The increased MED12 exon 2 mutation frequency in the multiple ULs was not accompanied by significant alterations in the spectrum of mutation categories, which included missense mutations, deletions, splicing defects, and multiple (double/triple) mutations. Each mutation category had a unique mutation set, comprising both frequent and rarely encountered mutations, which did and did not overlap between the studied groups, respectively. We conclude that in contrast to the solitary ULs, the multiple ULs predominantly originate through MED12-associated mechanisms. The nature of these mechanisms seems to be similar in solitary and multiple ULs, as they contain similar mutations. In multiple UL patients, they are likely to be nonsporadic, indicating the existence of specific factors predisposing to multiple UL development. These data suggest that to clearly understand UL pathogenesis, solitary and multiple tumors should probably be analyzed as separate sets. SN - 1538-7151 UR - https://www.unboundmedicine.com/medline/citation/26630226/Frequency_and_Spectrum_of_MED12_Exon_2_Mutations_in_Multiple_Versus_Solitary_Uterine_Leiomyomas_From_Russian_Patients_ L2 - https://doi.org/10.1097/PGP.0000000000000255 DB - PRIME DP - Unbound Medicine ER -