The American journal of the medical sciences
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Review Case Reports
Extremely aggressive course in a poorly differentiated thyroid carcinoma presenting a double mutation of the TERT promoter.
BRAF and TERT oncogenes hotspot mutations are associated with a more aggressive outcome in thyroid carcinomas (TC). TERT promoter (pTERT) mutations (C228T and C250T) are related to cancer growth and reduced overall- and disease-free survivals in TC. ⋯ This report describes both pTERT hotspot mutations in the same PDTC patient presenting a very aggressive course, even for PDTC, suggesting a relationship between the two events. However, more studies are needed to prove this causality.
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Medical language provides essential communication with patients and among healthcare providers. Some words appear frequently in this communication, in clinical records, and in the medical literature, and the use of these words assumes that the listener and reader understand their meaning in the context related to their current use. Words, such as syndrome, disorder, and disease, should have obvious definitions but often, in fact, have uncertain meanings. ⋯ The development of electronic medical records, internet-based communication, and advanced statistical techniques has the potential to clarify important features of syndromes. However, the recent analysis of certain subsets of patients in the ongoing COVID-19 pandemic has demonstrated that even large amounts of information and advanced statistical techniques using clustering or machine learning may not provide precise separation of patients into groups. Clinicians should use the word syndrome carefully.