mutations

A typical Immune T/B subset profile characterizes bicuspid aortic valve. in an old Status

Bicuspid valve disease is associated with the development of thoracic aortic aneurysm. The molecular mechanisms underlying
this association still need to be clarified. Here, we evaluated the circulating levels of T and B lymphocyte subsets associated with
the development of vascular diseases in patients with bicuspid aortic valve or tricuspid aortic valve with and without thoracic
aortic aneurysm. We unveiled that the circulating levels of the MAIT, CD4+IL−17A+, and NKT T cell subsets were significantly

Letter to the editors: pathogenetic analysis of sinonasal teratocarcinosarcomas reveal actionable ?-catenin overexpression and a ?-catenin mutation

We read with great interest the article “Pathogenetic Analysis of Sinonasal Teratocarcinosarcomas Reveal Actionable ?- Catenin Overexpression and a ?-Catenin Mutation” by Birkeland et al.1 In the article, the authors performed targeted exome sequencing on an index Sinonasal Teratocarcinosarcoma (SNTCS) specimen and identified an activating mutation in the ?-catenin gene (CTNNB1, c.134C > T, p.S45F). In addition, they confirmed ?-catenin overexpression and nuclear localization via immunohistochemistry in the index tumor and in a subsequent case.

Effective treatment of a platinum-resistant cutaneous squamous cell carcinoma case by EGFR pathway inhibition

Cutaneous squamous cell carcinoma (cSCC) is the second most common type of non-melanoma skin cancer. Platinum-based regimens have been an integral part of palliative care for patients with locally advanced or metastatic disease. There is no evidence of efficacy for later lines of chemotherapy and no targeted therapy has been introduced as 'standard of care'.

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