Metastatic salivary ductal carcinoma androgen receptor-positive with V600E BRAF gene mutation

Rossella De Cecio, Monica Cantile, Franco Fulciniti, Francesca Collina, Giosuè Scognamiglio, Francesco Longo, Franco Ionna, Gerardo Botti, Nunzia Simona Losito

Research output: Contribution to journalArticle

Abstract

Over the years, several molecular alterations associated with the pathogenesis and progression of the salivary glands tumors have been well-characterized. Particularly, the mutational status and/or aberrant expression of certain markers, such as EGFR, HER2, cKIT, BRAF and AR, mainly identified in some subgroups of salivary duct carcinomas (SDCs) highly aggressive, currently represent molecular targets for new and efficacious drugs routinely employed in the treatment of some common cancers. We describe the case of 52 years old woman with a palpable mass in the left parotid, with cytological examination suggestive for epithelial neoplasia likely metastasis by papillary thyroid tumor. The final diagnosis was high grade salivary ductal carcinoma with carcinomatous metastasis in 12 lymph nodes and masseter muscle. We decided to verify the presence of specific molecular alterations already described, in in particular HER2, ERbeta, AR protein expression and mutational state of bRAF gene. Immunohistochemical analyses revealed the overexpression of AR (40%), a focal positivity (4%) for HER2 and the overexpression of ERbeta in 80% of the neoplastic cells. Moreover we detected V600E bRaf mutation in our specimen. Several studies report the benefits of anti-androgen therapy in salivary glands tumors histotypes. The patient was enrolled for bicalutamide therapy showing a complete metastatic disease regression after six months. We suggest that the expression analysis of these biomarkers associated with histo-morphological data, could then provide the oncologist the opportunity to create a proper stratification of patients for customized therapies also for salivary gland tumors.

Original languageEnglish
Article numberIJCEM0022023
Pages (from-to)22463-22469
Number of pages7
JournalInternational Journal of Clinical and Experimental Medicine
Volume9
Issue number11
Publication statusPublished - Dec 20 2016

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Keywords

  • Molecular alterations
  • Salivary duct carcinomas
  • Target therapy

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

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