OBJECTIVES: Thymic carcinoma is a rare mediastinal neoplasm and little is known about its tumorigenesis. There is no effective treatment except for complete resection, and the prognosis of advanced cases is poor. To identify the mutations associated with tumorigenesis, we analyzed genetic profile of thymic carcinoma using targeted next-generation sequencing. MATERIALS AND METHODS: We sequenced about 409 cancer-related genes in 12 thymic squamous cell carcinoma tissues including 10 tumor/normal tissue pairs using Ion AmpliSeq Cancer Panel and Ion PGM Sequencer. We filtered the mutations with Ingenuity Variant Analysis, SIFT, PolyPhen-2, and PROVEAN. RESULTS AND CONCLUSION: Twenty-five candidate mutations in 24 genes were identified, including five tyrosine kinase genes (KIT, DDR2, PDGFRA, ROS1, IGF1R). There was no recurrent mutation among the samples studied. The KIT exon 11 deletion mutation in 1 patient was an activating mutation and may be an oncogenic driver mutation. Genetic profiling of thymic carcinoma using targeted next-generation sequencing was performed. The mutation status of thymic squamous cell carcinoma is highly heterogeneous.
OBJECTIVES:Thymic carcinoma is a rare mediastinal neoplasm and little is known about its tumorigenesis. There is no effective treatment except for complete resection, and the prognosis of advanced cases is poor. To identify the mutations associated with tumorigenesis, we analyzed genetic profile of thymic carcinoma using targeted next-generation sequencing. MATERIALS AND METHODS: We sequenced about 409 cancer-related genes in 12 thymic squamous cell carcinoma tissues including 10 tumor/normal tissue pairs using Ion AmpliSeq Cancer Panel and Ion PGM Sequencer. We filtered the mutations with Ingenuity Variant Analysis, SIFT, PolyPhen-2, and PROVEAN. RESULTS AND CONCLUSION: Twenty-five candidate mutations in 24 genes were identified, including five tyrosine kinase genes (KIT, DDR2, PDGFRA, ROS1, IGF1R). There was no recurrent mutation among the samples studied. The KIT exon 11 deletion mutation in 1 patient was an activating mutation and may be an oncogenic driver mutation. Genetic profiling of thymic carcinoma using targeted next-generation sequencing was performed. The mutation status of thymic squamous cell carcinoma is highly heterogeneous.
Authors: Ines P Silva; Amel Salhi; Keith M Giles; Matjaz Vogelsang; Sung W Han; Naima Ismaili; Kevin P Lui; Eric M Robinson; Melissa A Wilson; Richard L Shapiro; Anna Pavlick; Judy Zhong; Tomas Kirchhoff; Iman Osman Journal: Clin Cancer Res Date: 2015-12-02 Impact factor: 12.531
Authors: Franz Enkner; Bettina Pichlhöfer; Alexandru Teodor Zaharie; Milica Krunic; Tina Maria Holper; Stefan Janik; Bernhard Moser; Karin Schlangen; Barbara Neudert; Karin Walter; Brigitte Migschitz; Leonhard Müllauer Journal: Pathol Oncol Res Date: 2016-11-14 Impact factor: 3.201
Authors: Rick Kamps; Rita D Brandão; Bianca J van den Bosch; Aimee D C Paulussen; Sofia Xanthoulea; Marinus J Blok; Andrea Romano Journal: Int J Mol Sci Date: 2017-01-31 Impact factor: 5.923
Authors: Hae Min Jeong; Ryong Nam Kim; Mi Jeong Kwon; Ensel Oh; Jinil Han; Se Kyung Lee; Jong-Sun Choi; Sara Park; Seok Jin Nam; Gyung Yup Gong; Jin Wu Nam; Doo Ho Choi; Hannah Lee; Byung-Ho Nam; Yoon-La Choi; Young Kee Shin Journal: Oncotarget Date: 2017-06-27