This article reviews clinical case of epidermal growth factor receptor (EGFR) mutation-positive non-small cell lung cancer and the usage of osimertinib for its treatment. Targeted drugs, EGFR tyrosine kinase inhibitors were approved for the treatment of non-small cell lung cancer more than 15 years ago*. Updated results of the large multicenter randomized FLAURA trial showed that osimertinib, a third-generation irreversible selective epidermal growth factor receptor tyrosine kinase inhibitor, was more effective than first-generation EGFR tyrosine kinase inhibitors, not only in terms of progression-free survival, but in terms of duration of response and overall survival. Furthermore, statistically and clinically significant benefit is achieved without deterioration of tolerance and quality of life. This article presents a clinical case of a woman who has taken part in this clinical trial. In light of the fact that this patient has been one of the first to receive this therapy in Russia, this experience appears to be interesting, because it allows assess the long-term results of the therapy: the achieved response duration is more than 50 months with good tolerance of therapy.
Congenital hypothyroidism with goiter is a rare disease. In the early neonatal period, the pathology can manifest itself as both hypothyroidism symptoms and signs of tracheal compression with a large goiter. The most common cause of this disease is antithyroid maternal therapy, which accounts for 10-15% of congenital goiter cases. In the case of an unremarkable maternal history, the main cause of goiter is thyroid hormone dyshormonogenesis. Here, we present a case of congenital hypothyroidism with a giant goiter (55 cm3). The child was intubated soon after birth due to respiratory disorders and asphyxia caused by tracheal compression. In addition, the patient had tricuspid valve insufficiency and cardiomegaly. Levothyroxine substitution therapy initiated on the first day of life led to a rapid decrease in the thyroid volume and structural changes in the heart. The patient`s DNA was analyzed using a wide genetic panel «Congenital hypothyroidism»; no mutations were found. Despite the absence of mutations in genes involved in thyroid formation, we consider dyshormonogenesis as the most likely cause of goiter in our patient.
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