Dataset Information

MED12 alterations in both human benign and malignant uterine soft tissue tumors.

ABSTRACT: The relationship between benign uterine leiomyomas and their malignant counterparts, i.e. leiomyosarcomas and smooth muscle tumors of uncertain malignant potential (STUMP), is still poorly understood. The idea that a leiomyosarcoma could derive from a leiomyoma is still controversial. Recently MED12 mutations have been reported in uterine leiomyomas. In this study we asked whether such mutations could also be involved in leiomyosarcomas and STUMP oncogenesis. For this purpose we examined 33 uterine mesenchymal tumors by sequencing the hot-spot mutation region of MED12. We determined that MED12 is altered in 66.6% of typical leiomyomas as previously reported but also in 11% of STUMP and 20% of leiomyosarcomas. The mutated allele is predominantly expressed in leiomyomas and STUMP. Interestingly all classical leiomyomas exhibit MED12 protein expression while 40% of atypical leiomyomas, 50% of STUMP and 80% of leiomyosarcomas (among them the two mutated ones) do not express MED12. All these tumors without protein expression exhibit complex genomic profiles. No mutations and no expression loss were identified in an additional series of 38 non-uterine leiomyosarcomas. MED12 mutations are not exclusive to leiomyomas but seem to be specific to uterine malignancies. A previous study has suggested that MED12 mutations in leiomyomas could lead to Wnt/?-catenin pathway activation however our immunohistochemistry results show that there is no association between MED12 status and ?-catenin nuclear/cytoplasmic localization. Collectively, our results show that subgroups of benign and malignant tumors share a common genetics. We propose here that MED12 alterations could be implicated in the development of smooth muscle tumor and that its expression could be inhibited in malignant tumors.

SUBMITTER: Perot G

PROVIDER: S-EPMC3386951 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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MED12 alterations in both human benign and malignant uterine soft tissue tumors.

Pérot Gaëlle G Croce Sabrina S Ribeiro Agnès A Lagarde Pauline P Velasco Valérie V Neuville Agnès A Coindre Jean-Michel JM Stoeckle Eberhard E Floquet Anne A MacGrogan Gaëtan G Chibon Frédéric F

PloS one 20120629 6

The relationship between benign uterine leiomyomas and their malignant counterparts, i.e. leiomyosarcomas and smooth muscle tumors of uncertain malignant potential (STUMP), is still poorly understood. The idea that a leiomyosarcoma could derive from a leiomyoma is still controversial. Recently MED12 mutations have been reported in uterine leiomyomas. In this study we asked whether such mutations could also be involved in leiomyosarcomas and STUMP oncogenesis. For this purpose we examined 33 uter ...[more]

PMID: 22768200

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Project description:It is important to differentiate between benign and malignant myxoid tumors to establish the treatment plan, determine the optimal surgical extent, and plan postoperative surveillance, but differentiation may be complicated by imaging-feature overlap. Texture analysis is used for quantitative assessment of imaging characteristics based on mathematically calculated pixel heterogeneity and has been applied to the discrimination of benign from malignant soft tissue tumors (STTs). In this study, we aimed to assess the diagnostic value of the texture features of conventional magnetic resonance images for the differentiation of benign from malignant myxoid STTs. Magnetic resonance images of 39 patients with histologically confirmed myxoid STTs of the extremities were analyzed. Qualitative features were assessed and compared between the benign and malignant groups. Texture analysis was performed, and texture features were selected based on univariate analysis and Fisher's coefficient. The diagnostic value of the texture features was assessed using receiver operating curve analysis. T1 heterogeneity showed a statistically significant difference between benign and malignant myxoid STTs, with substantial inter-reader reliability. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of T1 heterogeneity were 55.6%, 83.3%, 88.2%, 45.5%, and 64.1%, respectively. Among the texture features, T2w-WavEnLL_s-3 showed good diagnostic performance, and T2w-WavEnLL_s-4 and GeoW4 showed fair diagnostic performance. The logistic regression model including T1 heterogeneity and T2_WavEnLL_s-4 showed good diagnostic performance. However, there was no statistically significant difference between the overall qualitative assessment by a radiologist and the predictor model. Geometry-based and wavelet-derived texture features from T2-weighted images were significantly different between benign and malignant myxoid STTs. However, the texture features had a limited additive value in differentiating benign from malignant myxoid STTs.

Dataset Information

MED12 alterations in both human benign and malignant uterine soft tissue tumors.

Publications

MED12 alterations in both human benign and malignant uterine soft tissue tumors.

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