Novel BRD2::NUTM1 Fusion in NUT Carcinoma With Exceptional Response to Chemotherapy: A Case Report.

We present the first known case of a patient with BRD2::NUTM1-driven NUT carcinoma. A 59-year-old woman presented with poorly differentiated squamous cell lung cancer metastatic to the pleura. Eventually, a positive NUT immunohistochemistry, NUT fluorescence in situ hybridization, and RNA next-generation sequencing with a BRD2::NUTM1 fusion led to the diagnosis of NUT carcinoma. She received multiple lines of chemotherapy with response and is still alive at 2 years postdiagnosis. This report expands on the known fusions in NUT carcinoma and highlights potential differences in patient prognosis on the basis of gene fusion partners.

Alexithymia and psychological distress in fibromyalgia: prevalence and relation with quality of life.

OBJECTIVES: Fibromyalgia (FM) is a chronic syndrome characterised by widespread musculoskeletal pain associated with other symptoms like fatigue, stiffness, non-restorative sleep and psychological distress that strongly affects the quality of life in FM patients. While the psychological distress has been widely explored in FM, only a few studies investigated alexithymia, an emotional dysregulation trait. AIMS: Evaluate the prevalence of alexithymia and psychological distress and their impact on patients quality of life. METHODS: A battery of tests assessing alexithymia, depression, anxiety, emotional distress symptoms and the health related quality of life (HRQoL) was filled out by 55 female FM patients. After having analysed their prevalence, two regression analyses were performed in order to evaluate the role that alexithymia, depression, anxiety, emotional distress and pain characteristics have on quality of life of FM patients. RESULTS: Results showed that a clinically relevant level of psychological distress was present in more than half of our sample, whereas alexithymic traits were present in 20% of the patients. Regression analyses showed that pain intensity, depression and current pain were the variables that best contribute to explain the physical component of the HRQoL while anxiety, depression and pain intensity were the variables that mainly contributed to explain the mental component of quality of life. CONCLUSIONS: These results underline the high prevalence of alexithymia in FM patients and the great impact of psychological symptoms on FM patients HRQoL. Wholistic care of FM patients which addresses both physical and psychological symptoms is needed.

Screening of depression in cardiology: A study on 617 cardiovascular patients.

BACKGROUND: Depression screening in the cardiovascular disease (CVD) care setting is under-performed, also because the issue of the optimal screening tools cut-off is still open. We analysed which HADS (Hospital Anxiety and Depression Scale) total score cut-off value shows the best properties in two groups of 357 Acute Coronary Syndrome (ACS) and 260 Chronic Coronary Artery Disease (CAD) hospitalized patients. METHODS: A Receiver Operating Characteristics (ROC) curve was plotted for both groups using the Montgomery-Asberg Depression Rating Scale (MADRS) as the criterion. Accuracy, positive (PPV) and negative (NPV) predictive values were computed for different cut-off scores. RESULTS: The ROC curves confirmed the excellent/very good accuracy of the HADS in both groups, with an area under the curve of 0.911 for the ACS and 0.893 for the CAD patients. The cut-off of 14 showed the best compromise between high sensitivity and good specificity in both groups, with high negative predicted values (95.5% and 92.4%, respectively). CONCLUSION: Using a cut-off value of 14, the HADS could be considered a good screening tool to identify hospitalized CAD and ACS patients requiring a more accurate depression assessment, in order to promptly plan the most appropriate treatment strategies and prevent the negative effects of depression in CVD patients.