Adrenocortical carcinoma (ACC) is a rare and aggressive malignancy. For stage I and II tumors, surgery is a curative option, but even in these cases recurrence is frequent. Practical guidelines advocate a combination of mitotane with etoposide, doxorubicin, and cisplatin as first-line therapy for metastatic adrenocortical carcinoma. However, this scheme presents limited efficacy and high toxicity. The use of Immune Checkpoint Inhibitors (ICI) and multi-Tyrosine Kinase Inhibitors (mTKI) has modified the approach of multiple malignancies. The expectation of their applicability on advanced adrenocortical carcinoma is high but the role of these new therapies persists unclear. This article provides a short summary of last years’ findings targeting outcomes, limitations, and adverse effects of these new therapeutic approaches. The results of recent trials and case series pointed pembrolizumab as the most promising drug among these new therapies. It is the most often used ICI and the one presenting the best results with less related adverse effects when in comparison to the standard treatment with mitotane. Hereafter, the identification of specific molecular biomarkers or immune profiles associated with ICI or mTKI good response will facilitate the selection of candidates for these therapies. So far, microsatellite instability and Lynch Syndrome related germline mutations are suggested as predictive biomarkers of good response. Contrarywise, cortisol secretion has been associated with more aggressive ACC tumors and potentially poor responses to immunotherapy.
Diabetes insipidus (DI) is characterised by thirst and polydipsia with hypotonic polyuria. Several forms exist, namely, central or pituitary, nephrogenic and gestational and must be differentiated for adequate treatment. We describe the case of a 41-year-old woman chronically infected with HIV who had been recently medicated with a tenofovir-based antiretroviral treatment and who, at 22 weeks of pregnancy, presented with transient gestational DI. Obstetric ultrasound revealed oligohydramnios and foetal growth restriction that did not improve despite serum sodium correction. The severity of the case suggested the presence of an underlying disorder and elevated copeptin levels indicated that an underlying subclinical form of nephrogenic DI, possibly induced by HIV-related nephropathy or tenofovir use, was present and rendered clinically overt during pregnancy.
Mycobacterium tuberculosis (MTB) is an aerobic bacillus responsible for tuberculous infection. The the thyroid gland being affected by MTB is a rare condition. A 71-year-old woman had 6 months of slight cervical discomfort. Her neck ultrasound showed, at the right lobe of the thyroid, a dominant heterogeneous nodule of 18 mm and homolateral lymph nodes with suspicious ultrasonographic features. The patient underwent fine-needle aspiration, the results of which were non-diagnostic (thyroid nodule) and reactive pattern (lymph node). A total thyroidectomy was performed and a lymph node was sampled for extemporaneous examination. Surprisingly, necrotising granulomas were documented. The diagnosis was definitely established by a positive culture of the lymph node tissue and molecular detection of MTB. Pulmonary involvement was excluded and she was started on antituberculous agents. In the absence of systemic, specific complaints or history of exposition, histopathology and culture of MTB remain a key step for the diagnosis.
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