Dataset Information

Genetic analysis of uterine adenosarcomas and phyllodes tumors of the breast.

ABSTRACT: Uterine adenosarcomas and breast phyllodes tumors (PTs) are morphologically similar, being composed of stromal projections in a leaf-like fashion lined by epithelial cells. Here, we investigated whether their histologic similarities would be mirrored at the genetic level. The previously reported repertoires of somatic genetic alterations found in 19 adenosarcomas and 22 PTs (six benign, six borderline, and 10 malignant) were compared. PTs significantly more frequently displayed mutations affecting MED12, the TERT gene promoter and bona fide cancer genes, whereas adenosarcomas harbored a higher rate of MDM2/CDK4 and TERT gene amplifications. Pathway analyses based on the genes affected by somatic genetic alterations in these tumors indicated that Wnt signaling likely plays a role in the biology of adenosarcomas and benign/borderline PTs. In conclusion, despite the differences at the gene level, PTs and adenosarcomas share remarkable morphologic similarities and enrichment for somatic genetic alterations affecting Wnt pathway-related genes.

SUBMITTER: Geyer FC

PROVIDER: S-EPMC5537914 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature

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Genetic analysis of uterine adenosarcomas and phyllodes tumors of the breast.

Geyer Felipe C FC Burke Kathleen A KA Piscuoglio Salvatore S Ng Charlotte K Y CKY Papanastasiou Anastasios D AD Marchiò Caterina C Selenica Pier P Edelweiss Marcia M Murray Melissa P MP Brogi Edi E Soslow Robert A RA Rubin Brian P BP Norton Larry L Reis-Filho Jorge S JS Weigelt Britta B

Molecular oncology 20170516 8

Uterine adenosarcomas and breast phyllodes tumors (PTs) are morphologically similar, being composed of stromal projections in a leaf-like fashion lined by epithelial cells. Here, we investigated whether their histologic similarities would be mirrored at the genetic level. The previously reported repertoires of somatic genetic alterations found in 19 adenosarcomas and 22 PTs (six benign, six borderline, and 10 malignant) were compared. PTs significantly more frequently displayed mutations affecti ...[more]

PMID: 28267263

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Project description:Background: The preoperative diagnosis of phyllodes tumors (PTs) of the breast is critical to appropriate surgical treatment. However, reliable differentiation between PT and fibroadenoma (FA) remains difficult in daily clinical practice. The purpose of this study was to investigate the utility of breast MRI texture analysis for differentiating PTs from FAs. Materials and Methods: Forty-two PTs and 42 FAs were enrolled in this retrospective study. Clinical and conventional MRI features (CCMF) and MRI texture analysis were used to distinguish between PT and FA. Texture features were extracted from the axial short TI inversion recovery T2-weighted (T2W-STIR), T1-weighted pre-contrast, and two contrast-enhanced series (first contrast and third contrast). The Mann-Whitney U test was used to select statistically significant features of texture analysis and CCMF. Using a linear discriminant analysis, the most discriminative features were determined from statistically significant features. The K-nearest neighbor classifier and ROC curve were applied to evaluate the diagnostic performance. Results: With a higher classification accuracy (89.3%) and an AUC of 0.89, the texture features on T2W-STIR outperformed the texture features on other MRI sequences and CCMF. The AUC of the combination of CCMF with texture features on T2W-STIR was significantly higher than that of CCMF or texture features on T2W-STIR alone (p < 0.05). Based on the result of the classification accuracy (95.2%) and AUC (0.95), the diagnostic performance of the combination strategy performed better than texture features on T2W-STIR or CCMF separately. Conclusions: Texture features on T2W-STIR showed better diagnostic performance compared to CCMF for the distinction between PTs and FAs. After further validation of multi-institutional large datasets, MRI-based texture features may become a potential biomarker and be a useful medical decision tool in clinical trials having patients with breast fibroepithelial neoplasms.

Dataset Information

Genetic analysis of uterine adenosarcomas and phyllodes tumors of the breast.

Publications

Genetic analysis of uterine adenosarcomas and phyllodes tumors of the breast.

Similar Datasets

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