Suspected NUT carcinoma progressing on pembrolizumab, carboplatin, and paclitaxel as first-line treatment: a case report.

Introduction and importance: NUT carcinoma of the thorax is an extremely rare neoplasm characterized by a translocation between the NUT M1 gene and members of the bromodomain genetic family. Due to the rarity of the neoplasm, standardized treatment guidelines have not yet been established. Several chemotherapeutic agents have been used with limited success, due to the rapid development of resistance to treatment. Pembrolizumab, an anti-programmed-death-1 antibody, has become increasingly used in non-small-cell lung carcinomas. Consequently, pembrolizumab may be beneficial in the treatment of NUT carcinoma. Case presentation: In this article, we discuss the case of a 24-year-old man who was referred to our centre due to an incidental mass finding on an unrelated computed tomography scan. Morphological and immunohistochemical characteristics are highly suspicious of NUT carcinoma with bone metastasis. The patient was placed on carboplatin, paclitaxel, and pembrolizumab as first-line therapy. The patient later progressed and began receiving second-line treatment according to Ewing's protocol. 20 months later, the mass continued to grow, and the patient was started on docetaxel and gemcitabine, which was unsuccessful. After discussing with the patient, he decided to stop chemotherapy and begin palliative care. Clinical discussion: NUT carcinoma is an aggressive tumour with poor prognosis. Treatment options are limited and pembrolizumab does not seem to influence the clinical outcome of the neoplasm. Conclusion: Overall, pembrolizumab does not seem to improve the outcomes of NUT carcinoma patients. To the authors' knowledge, this is the second article reporting the effects of pembrolizumab on the progression of NUT carcinoma.

A Young Patient with Undiagnosed Polycythemia-Paraganglioma Syndrome: A Case Report.

BACKGROUND Erythrocytosis results from primary or secondary causes and is characterized by an increased red blood cell count. Secondary erythrocytosis is a result of an underlying cause outside the bone marrow and is often mediated by erythropoietin. Paragangliomas are rare tumors characterized by increased release of catecholamines with symptoms such as hypertension, hematuria, headache, sweating, and post-micturition syncope. Polycythemia-paraganglioma syndrome (PPS) is exceedingly rare, and reports in the literature are limited. CASE REPORT A 14-year-old female patient presented to our clinic with sweating, palpitations, and palmar erythema. The patient's history was significant for uninvestigated hypertension diagnosed at the age of 9. There was no history of smoking or illicit drug use. Blood investigations revealed an elevated hemoglobin level of 18.5 g/dL and a hematocrit of 57.5%. Whole-genome sequencing found no mutations, excluding polycythemia vera from the differential diagnosis. Computed tomography (CT) revealed 2 lesions compatible with urinary bladder paragangliomas and retroperitoneal lesions, likely representing metastatic lymphadenopathy. Whole-body gallium-68 DOTATATE PET/CT scan demonstrated significant tracer uptake within the necrotic retroperitoneal lymph nodes. However, evaluation of the bladder lesion was limited due to physiological urinary excretion of the tracer. A 24-hour urine collection demonstrated high normetanephrine levels of 24 µmol/L. These findings confirmed the diagnosis of PPS. CONCLUSIONS PPS is largely associated with HIF2A mutations. This article describes the case of a young PPS patient and highlights the importance of considering neoplasms in the differential diagnosis of hypertension in young patients. Further, it is crucial to conduct clinical investigations on young hypertensive patients to exclude underlying causes such as renal diseases, coarctation of the aorta, and neuroendocrine disorders.

Utilization of the emergency department by kidney transplant recipients: a retrospective cohort study from a high-volume transplant center.

This study aims to assess the trends of emergency department (ED) visits among kidney transplant recipients in a high-volume transplant centre. Methods: This retrospective cohort study targeted patients who underwent renal transplantation at a high-volume transplant centre from 2016 to 2020. The main outcomes of the study were ED visits within 30 days, 31-90 days, 91-180 days, and 181-365 days of transplantation. Results: This study included 348 patients. The median (interquartile range) age of patients was 45.0 years (30.8, 58.2). Over half of the patients were male (57.2%). There was a total of 743 ED visits during the first year after discharge. 19% (n=66) were considered high-frequency users. High-volume ED users tended to be admitted more frequently as compared to those with low frequencies of ED visits (65.2% vs. 31.2%, respectively, P<0.001). Conclusion: As evident by the large number of ED visits, suitable coordination of management through the ED remains a pivotal component of post-transplant care. Strategies addressing prevention of complications of surgical procedures or medical care and infection control are aspects with potential for enhancement.