Background: Germline pathogenic variants (PV) in BRCA1 and BRCA2 genes, which account for 20% of familial breast cancer (BC) cases, are highly penetrant and are associated with Hereditary Breast/Ovarian Cancer Syndrome. Previous studies, mostly including higher numbers of BRCA1 BC patients, yielded conflicting results regarding BRCA1/2 BC outcomes. In the Portuguese population, BRCA2 BC is diagnosed more frequently than BRCA1 BC. We aimed to compare clinicopathological characteristics and prognosis between BC patients with BRCA1 and BRCA2 mutations and a control group without germline PV (BRCA-wt). Furthermore, we explored the frequency and outcomes of risk-reducing surgeries in BRCA-mutated patients. Methods: Prospective follow-up was proposed for patients with a diagnosed BRCA1/2 PV. For this study, a matched control group (by age at diagnosis, by decade, and by stage at diagnosis) included BC patients without germline PV. We compared overall survival (OS) and invasive disease-free survival (iDFS) within the three groups, and the use of risk-reducing surgeries among the BRCA cohort. Results: For a mean follow-up time of 113.0 months, BRCA-wt patients showed longer time to recurrence (p = 0.002) and longer OS (p < 0.001). Among patients with BRCA mutations, no statistical differences were found, although patients with BRCA2 BC had longer iDFS and OS. Uptake of risk-reducing surgeries (contralateral prophylactic mastectomy and salpingo-oophorectomy) were negative predictors of invasive disease and death, respectively. Conclusions: Testing positive for a BRCA PV is associated with a higher risk of relapse and death in patients with BC in the Portuguese population. Risk-reducing mastectomy and salpingo-oophorectomy were associated with lower incidence of relapse and longer median iDFS and OS, respectively.

Low-grade serous ovarian carcinoma (LGSOC) is an uncommon subtype of ovarian cancer, and it is usually associated with reduced sensitivity to chemotherapy and worse outcomes. We present a case involving a 45-year-old female patient diagnosed with stage III-C low-grade serous ovarian carcinoma (LGSOC) in 2013. She achieved a complete response for 29 months after undergoing platinum-based chemotherapy and interval cytoreduction. However, in 2016, both local and distant relapses were observed. As there was no benefit from hormonal therapy and the patient refused chemotherapy, bevacizumab was initiated, resulting in disease stabilization for 30 months. At disease progression, trametinib was proposed, and the patient experienced an ongoing sustained complete response for over 36 months. To the best of our knowledge, this is the first report, outside of a clinical trial, regarding a complete response with single agent MEK inhibitor therapy in a patient with recurrent LGSOC, with unknown BRAF V600E mutation. We present the following case in accordance with the CAse REports (CARE) checklist.

Background. Controversies exist about the effect of renin-angiotensin system inhibitors (RASi) on coronavirus disease 2019 (COVID-19) outcome. The inhospital use of RASi and its effect on inflammatory sate are still poorly studied during the COVID-19 pandemic. Objectives. We aimed to compare the impact of previous and inhospital RASi exposure on the outcome and inflammatory response of COVID-19 patients. Methods. Single-centre, ambispective analysis of hospitalized adult COVID-19 patients at Hospital de Santa Maria, Lisbon, between March and August 2020 was performed. We excluded asymptomatic patients and those admitted due to another disease. The primary outcome was inhospital all-cause mortality. Illness severity was assessed based on the development of acute respiratory distress syndrome/acute lung injury (ARDS/ALI), intensive care unit (ICU) admission, and need for invasive mechanical ventilation (IMV). We used C-reactive protein (CRP), ferritin, and interleukin 6 (IL-6) as surrogate markers of the inflammatory response. Results. From a total of 432 patients, 279 were selected, among whom 133 (47.7%) were receiving a RASi. Chronic treatment with RASi was not associated with the risk of death (OR 1.24, 95% CI 0.66–2.31, ), ARDS/ALI development (OR 1.12, 95% CI 0.67–1.86, ), ICU admission (OR 1.11, 95% CI 0.67–1.84, p = 0.686), and IMV need (OR 1.03, 95% CI 0.58–1.84, ) in a univariable and multivariable analysis. Inhospital RASi withdrawing was associated with the risk of death (OR 4.38, 95% CI 1.11–17.21, ) and ARDS/ALI development (OR 4.33, 95% CI 1.49–12.6, ), the latter remaining significant after adjustment. Previous exposure to RASi was associated with lower CRP levels at admission ( ). IL-6 levels were significantly higher in those patients whose RASi were stopped ( ). Conclusion. Previous and inhospital exposure to RASi was not associated with mortality nor severity of COVID-19. This study supports current guidance on RASi management during the COVID-19 pandemic.

Renal cell carcinoma accounts for approximately 3% of adult malignancies. Designated in the literature as "the great masquerader," the great diversity of clinical manifestations is associated with the several paraneoplastic syndromes that potentially accompany it. Paraneoplastic amyloidosis is described in about 3-8% of cases, only exceptionally as an initial manifestation, with uncommon gastrointestinal involvement. A rare case of malabsorption by intestinal amyloidosis is presented as initial manifestation of renal cell carcinoma, emphasizing the need for early recognition of these paraneoplastic conditions.

Sweet taste dysgeusia is a rare symptom where patients experience all food as having a sweet taste. While its cause is still unknown, it has been increasingly reported in the setting of lung cancer and syndrome of inappropriate secretion of antidiuretic hormone-related hyponatremia. In this case report, we present what we believe to be the first case of sweet taste dysgeusia in a non-cancer context. We will briefly review and summarize all published cases describing this symptom and also reflect upon the nature of this condition focusing on the role of serum sodium levels in sweet taste receptor modulation.

Introdução: As informações relativas às características clínicas e demográficas dos doentes portugueses hospitalizados com COVID-19 são limitadas. Material e Métodos: Estudo ambispetivo dos doentes internados com COVID-19 num hospital terciário português entre março e agosto de 2020. Foram excluídos os doentes assintomáticos, mulheres grávidas e os internados por causas sociais. Resultados: Dos 432 doentes internados, foram incluídos 279. A idade mediana foi de 69 anos, 57% do sexo masculino. As comorbilidades mais frequentes foram a hipertensão arterial (66,3%), dislipidémia (33,3%), diabetes (27,1%) e doença cardiovascular (DCV) (26,5%). A sintomatologia mais frequente à admissão foi febre (74,4%), tosse (67,0%) e dispneia (59,9%). As alterações laboratoriais mais frequentes foram níveis elevados de ferritina (86,3%), proteína c-reativa (74,8%) e d-dímeros (73,9%). A taxa de mortalidade foi 17,3%, 32,3% dos doentes desenvolveram síndrome de dificuldade respiratória aguda, 31,9% foram admitidos numa unidade de cuidados intensivos e 20,8% foram ventilados mecanicamente. Na análise multivariável, a idade (OR 1,04, 95% CI 1,01–1,09, p=0,023), DCV (OR 2,68, 95% CI 1,21–5,93, p=0,015) e linfopenia <0,5x109/L (OR 6,61, 95% CI 2,23–19,62, p=0,001) identificaram-se como os principais fatores de risco de mortalidade intra-hospitalar. Discussão: Os nossos dados demográficos e desfechos clínicos equiparam-se aos estudos publicados até à data. Em comparação com os estudos em populações europeias, relatamos uma menor taxa de mortalidade intra-hospitalar, o que poderá refletir um melhor controlo da primeira vaga da pandemia no nosso país. Conclusão: Este estudo fornece informação acerca das características clínicas dos doentes com COVID-19 hospitalizados em Portugal.