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Updated: Jul 12, 2026

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Mediastinal epithelial neoplasms with recurrent molecular alterations.
Michael W Mikula1, Ezra Baraban1
1Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
This review details recurrent molecular genetic alterations in mediastinal epithelial tumors, aiding pathologists in recognizing molecularly defined entities and their genetic basis. Understanding these alterations is crucial for diagnosis and prognosis of aggressive tumors.
Area of Science:
- Oncology
- Pathology
- Genetics
Background:
- Mediastinal epithelial tumors encompass a range of benign and malignant neoplasms.
- Accurate diagnosis and prognostication are essential due to the aggressive behavior of some subtypes.
Purpose of the Study:
- To review recurrent molecular genetic alterations in mediastinal epithelial tumors.
- To aid surgical pathologists in recognizing molecularly defined entities and their genetic underpinnings.
- To highlight diagnostically useful immunohistochemical targets.
Main Methods:
- Review of molecular landscape of thymoma and thymic carcinoma.
- Analysis of molecular classification schemes and common alterations from The Cancer Genome Atlas and other sources.
- Discussion of specific entities like NUT carcinoma and SWI/SNF complex-deficient tumors.
Main Results:
- Identification of recurrent molecular genetic alterations in various mediastinal epithelial tumors.
- Correlation of molecular alterations with prognostic and therapeutic implications.
- Description of challenging morphologic and immunohistochemical profiles of poorly differentiated neoplasms.
Conclusions:
- Molecular insights are critical for understanding and diagnosing mediastinal epithelial tumors.
- Recognition of specific molecular alterations aids in identifying aggressive tumors like NUT carcinoma and SWI/SNF complex-deficient tumors.
- Further understanding of genetic events is needed for these destructive tumors.
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