BackgroundSalivary duct carcinomas (SDCa) are rare highly aggressive malignancies. Most patients die from distant metastatic disease within three years of diagnosis. There are limited therapeutic options for disseminated disease.Results11 cases showed androgen receptor expression and 6 cases showed HER2 amplification. 6 Somatic mutations with additional available targeted therapies were identified: EGFR (p.G721A: Gefitinib), PDGFRA (p.H845Y: Imatinib and Crenolanib), PIK3CA (p.H1047R: Everolimus), ERBB2 (p.V842I: Lapatinib), HRAS (p.Q61R: Selumetinib) and KIT (p.T670I: Sorafenib). Furthermore, alterations in PTEN, PIK3CA and HRAS that alter response to androgen deprivation therapy and HER2 inhibition were also seen.Materials and MethodsSomatic mutation analysis was performed on DNA extracted from 15 archival cases of SDCa using the targeted Illumina TruSeq Amplicon Cancer Panel. Potential targetable genetic alterations were identified using extensive literature and international somatic mutation database (COSMIC, KEGG) search. Immunohistochemistry for androgen receptor and immunohistochemistry and fluorescent in situ hybridization for HER2 were also performed.ConclusionsSDCa show multiple somatic mutations, some that are amenable to pharmacologic manipulation and others that confer resistance to treatments currently under investigation. These findings emphasize the need to develop testing and treatment strategies for SDCa.
This case describes the first report of Haff disease in Australia, where a family of three all presented with myalgia, after ingesting recently thawed, baked queen snapper fish, caught off the coast of Western Australia. All three members (mother, father and son) developed rhabdomyolysis; however, the son, who had a higher creatine kinase level, also developed an acute kidney injury, likely linked to his double fish consumption. All members were admitted for intravenous hydration and clinically improved. This case highlights the importance of dietary and environmental history in cases of rhabdomyolysis without an obvious aetiology in an otherwise self-limiting disease.
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