Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes.

Epithelial ovarian cancer (EOC) is one of the cancers most influenced by hereditary factors. A fourth to a fifth of unselected EOC patients carry pathogenic variants (PVs) in a number of genes, the majority of which encode for proteins involved in DNA mismatch repair (MMR) pathways. PVs in BRCA1 and BRCA2 genes are responsible for a substantial fraction of hereditary EOC. In addition, PV genes involved in the MMR pathway account for 10-15% of hereditary EOC. The identification of women with homologous recombination (HR)-deficient EOCs has significant clinical implications, concerning chemotherapy regimen planning and development as well as the use of targeted therapies such as poly(ADP-ribose) polymerase (PARP) inhibitors. With several genes involved, the complexity of genetic testing increases. In this context, next-generation sequencing (NGS) allows testing for multiple genes simultaneously with a rapid turnaround time. In this review, we discuss the EOC risk assessment in the era of NGS.

Unraveling the Wide Spectrum of Melanoma Biomarkers.

The use of biomarkers in medicine has become essential in clinical practice in order to help with diagnosis, prognostication and prediction of treatment response. Since Alexander Breslow's original report on "melanoma and prognostic values of thickness", providing the first biomarker for melanoma, many promising new biomarkers have followed. These include serum markers, such as lactate dehydrogenase and S100 calcium-binding protein B. However, as our understanding of the DNA mutational profile progresses, new gene targets and proteins have been identified. These include point mutations, such as mutations of the BRAF gene and tumour suppressor gene tP53. At present, only a small number of the available biomarkers are being utilised, but this may soon change as more studies are published. The aim of this article is to provide a comprehensive review of melanoma biomarkers and their utility for current and, potentially, future clinical practice.

Management of Metastatic Spinal Cord Compression in Secondary Care: A Practice Reflection from Medway Maritime Hospital, Kent, UK.

INTRODUCTION: Malignant spinal cord compression (MSCC) is one of the most devastating complications of cancer. This event requires rapid decision-making on the part of several specialists, given the risk of permanent spinal cord injury or death. The goals of treatment in spinal metastases are pain control and improvement of neurological function. There can be challenges in delivering prompt diagnosis and treatment in a secondary care setting. We have reflected on the experience of managing MSCC in a district general setting. AIM: Our retrospective audit identified 53 patients with suspected MSCC who entered the relevant pathway from April 2017 to March 2018 at Medway, United Kingdom (UK). Our audit standards were set out by Medway Maritime Hospital and Maidstone and Tunbridge Wells NHS Trust MSCC working group members, using a combination of published evidence and best practice. RESULTS: The patients with suspected MSCC were 53 and 29 of them (54.7%) had confirmed MSCC. The most common malignancies within the confirmed MSCC were lung (11 patients, 37.9%), breast (5 patients 17.2%), and renal (3 patients, 10.3%), followed by prostate, myeloma and carcinoma of unknown primary (2 patients (6.9%) each), as well as pancreatic, colorectal, lymphoma and, bladder (1 patient (3.4%) each). A magnetic resonance imaging (MRI) scan was performed in 48 patients (90.5%); the majority (31 patients, 64.6%) underwent the MRI within the first 24 h, whereas 3 patients had the investigation between 24 and 72 h from the admission. Among the 29 patients with confirmed MSCC, 6 (20.6%) were treated with surgical decompression, while 20 (69%) received radiotherapy (RT) and 3 (10.3%) best supportive care, respectively. Median time to surgery was 5 days (ranged between 2 and 8 days), whereas for RT 44.4 h (ranged between 24 and 72 h). Finally, all 3 patients that decided on symptom control were referred to a palliative care team within the first 24 h following the MRI scan. CONCLUSIONS: MSCC is frequently presented outside tertiary care. This may cause subsequent delays in investigation, diagnosis, and treatment, which can be improved by following a fast track referral pathway.

Active screening for COPD among hospitalized smokers - a feasibility study.

BACKGROUND: Spirometry is a primary tool for early chronic obstructive pulmonary disease (COPD) detection in patients with risk factors, for example, cigarette smoking. The aim of this study was to evaluate the strategy of an active screening for COPD among smokers admitted to the pulmonary and cardiology department. METHODS: This prospective study was conducted between February and March 2019. All hospitalized smokers aged 40 years and older completed an original questionnaire and had spirometry measurement with a bronchial reversibility test (if applicable) performed by medical students using a portable spirometer. RESULTS: One hundred and eighty-eight patients were eligible to participate in the study. Seventy (37%) subjects refused to participate. Eventually, 116 (62%) patients were included in the final analysis and 94 (81%) performed spirometry correctly. In total, 32 (34 %) patients were found to have COPD. Nine (28%) of these patients were newly diagnosed, 89% of them had mild-to-moderate airway obstruction. Patients with newly diagnosed COPD were significantly younger [age 63 (56-64) versus 69 (64-78) years], had a longer smoking-free period [17 (13-20) versus 9 (2-12) years], had fewer symptoms and had a better lung function compared with patients with a previous diagnosis of COPD (p < 0.05 for all comparisons). CONCLUSION: The proposed diagnostic strategy can be successfully used to improve COPD detection in the inpatient setting. The majority of the newly diagnosed COPD patients had mild-to-moderate airway obstruction. Patients who should be particularly screened for COPD include ex-smokers with less pronounced respiratory symptoms.