MED12 exon 2 mutations are common in uterine leiomyomas from South African patients

Mäkinen, Netta; Heinonen, Hanna-Riikka; Moore, Shane; Tomlinson, Ian; Spuy, Zephne van der; Aaltonen, Lauri A.

doi:10.18632/oncotarget.370

Cited by 93 publications

(89 citation statements)

References 13 publications

(18 reference statements)

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“…Further studies must be performed to clarify this matter. In addition, the results of the present study also showed that the MED12 mutation frequency in small hysteromyomas was higher than that in large hysteromyomas, which was consistent with the study by Mäkinen et al (7).…”

Section: Discussionsupporting

confidence: 93%

“…The reported mutation frequency in the South African population appeared to be lower than that found in Caucasian individuals, which may be a result of the size of the hysteromyoma in these patients. The tumors of the individuals of the South African population were usually large, and according the study by Mäkinen et al, the size of the hysteromyoma may be negatively correlated with the presence of mutations (7). In the present study, the mutation frequency of MED12 in hysteromyoma was 54.39%, similar to that of the individuals of African descent, and lower than that of the Finnish or North American populations.…”

Section: Discussionsupporting

confidence: 63%

“…Previous studies have shown that the second exon of the MED12 gene in hysteromyoma patients who were from Finland, North America or South Africa presented with high mutation frequencies (7)(8)(9). The reported mutation frequency in the South African population appeared to be lower than that found in Caucasian individuals, which may be a result of the size of the hysteromyoma in these patients.…”

Section: Discussionmentioning

confidence: 78%

“…Certain recent studies have shown that MED12 presents with different mutations frequencies in hysteromyoma patients of different racial populations (7)(8)(9), which suggests that MED12 mutations have an important role in causing hysteromyoma. At present, there is no study with regard to MED12 gene mutations in hysteromyoma patients of the Chinese Han population.…”

Section: Introductionmentioning

confidence: 99%

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MED12 mutation in patients with hysteromyoma

Wang

Chen

et al. 2015

Oncology Letters

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Abstract. Mediator Complex Subunit 12 (MED12) is a subunit of the mediator complex, which is believed to regulate global, as well as gene-specific, transcription. It has been reported that MED12 is mutated at high frequency in hysteromyoma. Recent studies have also shown that MED12 presents with different mutation frequencies in hysteromyoma patients of different populations. However, there are few studies with regard to the MED12 gene mutation in hysteromyoma patients in the Chinese Han population. In the present study, the MED12 mutations of 171 patients with hysteromyoma were analyzed; the results showed that 93 patients exhibited different MED12 mutations, including 131G→T, 131G→A, 130G→A, 146C→T, 130G→A, 130G→C, 128A→C, 130G→T, 127Ins27, 118_132Del15, 117_134Del18, 131_148Del18 and 141_165Del15. The mutation frequency was similar to that found in individuals of African descent or individuals of other non-Caucasian ethnicities, and lower than that in the Finnish or North American populations. Further analysis of 141 patients whose hysteromyoma was measured showed that the mutation frequency of MED12 in patients with large hysteromyomas was significantly lower than that in those with small hysteromyomas. These results suggested that MED12 mutation was important in the development of hysteromyomas in the Chinese Han population and that the size of the hysteromyoma may negatively correlate with the mutation frequency of MED12. This study supplemented current information on MED12 mutations in different races and may aid in developing personalized diagnoses for patients with hysteromyoma in the future.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionsupporting

confidence: 63%

Section: Discussionmentioning

confidence: 78%

Section: Introductionmentioning

confidence: 99%

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MED12 mutation in patients with hysteromyoma

Wang

Chen

et al. 2015

Oncology Letters

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“…It has been reported that in patients suffering from uterine leiomyoma, MED12 mutations are found in stem cells, which leads to unlimited growth and tumor. The mutation sites in MED12 are located in the second exon (Makinen et al, 2011a(Makinen et al, , 2011bJe et al, 2012;Markowski et al, 2012). It was recently reported that the second exon mutation occurs in 52.2% of uterine fi broid patients while the mutation is not found in other tumors (Je et al, 2012), implicating the involvement of MED12 in the disease.…”

Section: Med12 Mutations and Uterine Leiomyomamentioning

confidence: 99%

MED12 mutations in human diseases

Wang

Qin²,

et al. 2013

Protein Cell

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Molecular analyses of 6 different types of uterine smooth muscle tumors: Emphasis in atypical leiomyoma

Zhang

Ubago

et al. 2014

Cancer

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BACKGROUND: Uterine smooth muscle tumors (USMTs) constitute a group of histologic, genetic, and clinical heterogeneous tumors that include at least 6 major histologically defined tumor types: leiomyoma (ULM), mitotically active leiomyoma (MALM), cellular leiomyoma (CLM), atypical leiomyoma (ALM), uncertain malignant potential (STUMP), and leiomyosarcoma (LMS). Apart from ULM and LMS, the nature of these variants is not well defined. METHODS: A total of 167 cases of different USMT variants were collected, reviewed, and diagnostically confirmed based on the World Health Organization and Stanford schemes. These included 38 cases of LMS, 18 cases of STUMP, 42 cases of ALM, 22 cases of CLM, 7 cases of MALM, and 40 cases of ULM. Molecular analysis included selected microRNAs (miRNAs), oncogenes, and tumor suppressors that are highly relevant to USMT. RESULTS: Overall, 49% (17/35) of LMS cases and 7% (1/14) of STUMP cases died due to their USMT, but no deaths were attributed to ALM. miRNA profiling revealed that ALM and LMS shared similar miRNA signatures. P53 mutations and PTEN deletions were significantly higher in LMS, ALM, and STUMP compared with other USMT variants (P <.01). In contrast, MED12 mutations were extremely common in ULM and MALM (>74%) but were significantly less common (<15%) in CLM, ALM, STUMP, and LMS (P <.01). CONCLUSION: Six types of USMT have different gene mutation fingerprints. ALM shares many molecular alterations with LMS. Our findings suggest that ALM may be a precursor lesion of LMS or have similar genetic changes during its early stage. Cancer 2014;120:3165-77.

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MED12 exon 2 mutations are common in uterine leiomyomas from South African patients

Cited by 93 publications

References 13 publications

MED12 mutation in patients with hysteromyoma

MED12 mutation in patients with hysteromyoma

MED12 mutations in human diseases

Molecular analyses of 6 different types of uterine smooth muscle tumors: Emphasis in atypical leiomyoma

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