1. Identification of a novel RAB3IP‐HMGA2 fusion transcript in an adult head and neck rhabdomyosarcoma.
- Author
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De Vita, Alessandro, Ferrari, Anna, Miserocchi, Giacomo, Vanni, Silvia, Domizio, Chiara, Fonzi, Eugenio, Fausti, Valentina, Recine, Federica, Bassi, Massimo, Campobassi, Angelo, Liverani, Chiara, Spadazzi, Chiara, Cocchi, Claudia, De Luca, Giovanni, Pieri, Federica, Gurrieri, Lorena, Di Menna, Giandomenico, Calpona, Sebastiano, Bongiovanni, Alberto, and Martinelli, Giovanni
- Subjects
PROTEINS ,SEQUENCE analysis ,GENETIC mutation ,RHABDOMYOSARCOMA ,IMMUNOHISTOCHEMISTRY ,HEAD & neck cancer ,CELL physiology ,BIOINFORMATICS ,TREATMENT effectiveness ,GENE rearrangement ,CELL proliferation ,TRANSCRIPTION factors ,CELL lines - Abstract
The article describes the case of a 74-year old patient diagnosed with RAB3IP-HMGA2 gene fusion transcript in head and neck rhabdomyosarcoma. Results of immunohistochemical examinations showed positivity of tumor cells for vimentin, MyoD1, focal positivity for desmin, myoglobin, myogenin, CD34 and AE1-AE3 cytokeratin and negativity for S100, STAT6 and P63. Findings also indicates the association of RAB3IP-HMGA2 with tumor cell proliferation and epithelial mesenchymal transition (EMT).
- Published
- 2022
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