학술논문
Identification of a novel RAB3IP‐HMGA2 fusion transcript in an adult head and neck rhabdomyosarcoma.
Document Type
Case Study
Author
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; Martinelli, Giovanni
Source
Subject
*PROTEINS
*SEQUENCE analysis
*GENETIC mutation
*RHABDOMYOSARCOMA
*IMMUNOHISTOCHEMISTRY
*HEAD & neck cancer
*CELL physiology
*BIOINFORMATICS
*TREATMENT effectiveness
*GENE rearrangement
*CELL proliferation
*TRANSCRIPTION factors
*CELL lines
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Language
ISSN
1354-523X
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).