Objective: ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping alterations represent fundamental predictive biomarkers for advanced non-small cell lung cancer (NSCLC) patients to ensure the best treatment choice. In this scenario, RNA-based NGS approach has emerged as an extremely useful tool for detecting these alterations. In this study, we report our NGS molecular records on ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping alterations detected by using a narrow RNA-based NGS panel, namely SiRe fusion.
View Article and Find Full Text PDFThe increasing global concern over microplastic pollution has driven a surge in research efforts aimed at detecting microplastics across various ecosystems. Airborne microplastics (MPs) have been identified in remote environments worldwide, including Antarctica. However, data on bulk atmospheric deposition remain scarce.
View Article and Find Full Text PDFDespite recent advances, biliary tract cancer (BTC) remains one of the most lethal tumor worldwide due to late diagnosis, limited therapeutic strategies and resistance to conventional therapies. In recent years, high-throughput technologies have enabled extensive genome, and transcriptome sequencing unveiling, among others, the regulatory potential of microRNAs (miRNAs). Compelling evidence shown that miRNA are attractive therapeutic targets and promising candidates as biomarkers for various therapy-resistant tumors.
View Article and Find Full Text PDFIntroduction: Biomarker testing is mandatory for the clinical management of patients with advanced non-small cell lung cancer (NSCLC). Myriads of technical platforms are now available for biomarker analysis with differences in terms of multiplexing capability, analytical sensitivity, and turnaround time (TAT). We evaluated the technical performance of the diagnostic workflows of 24 representative Italian institutions performing molecular tests on a series of artificial reference specimens built to mimic routine diagnostic samples.
View Article and Find Full Text PDFNeutrophil gelatinase-associated lipocalin (NGAL), a siderophore-mediated iron binding protein, is highly expressed in human anaplastic thyroid carcinomas (ATCs) where it plays pleiotropic protumorigenic roles including that of a prosurvival protein. Here we show that NGAL inhibits FAS/CD95 death receptor to control ATC cell survival. FAS/CD95 expression in human specimens from patients with ATC and in ATC-derived cell lines negatively correlate with NGAL expression.
View Article and Find Full Text PDFTo verify the existence of a preparatory process for the 6 February 2023, Mw 7.8 Kahramanmaraş earthquake, southern Türkiye, we analyze the temporal evolution of seismic catalog information for ~ 7500 earthquakes with magnitudes M ≥ 1.5, which occurred along the main segments of the East Anatolian Fault (EAF) since 2014.
View Article and Find Full Text PDFHow, when and where large earthquakes are generated remain fundamental unsolved scientific questions. Intercepting when a fault system starts deviating from its steady behavior by monitoring the spatio-temporal evolution and dynamic source properties of micro-to-small earthquakes can have high potential as tool for identifying the preparatory phase of large earthquakes. We analyze the seismic activity that preceded the Mw 6.
View Article and Find Full Text PDFCyclin-dependent kinase 4 and 6 inhibitors (CDK4/6i) have been approved in combination with endocrine therapy (ET) to treat estrogen receptor-positive (ER+) metastatic breast cancer (BC). However, drug resistance represents the leading cause of breast cancer patients mortality. This study aimed to identify novel resistance mechanisms to ER antagonists in combination with CDK4/6 inhibitors.
View Article and Find Full Text PDFAims: Poly (ADP-ribose) polymerase (PARP) inhibitors (PARPIs) represent a standard of care for the clinical management of high-grade serous ovarian cancer (HGSOC). The recognition of homologous recombination deficiency (HRD) has emerged as a predictive biomarker of response for first-line PARPIs treatment in patients with HGOSC. On the other hand, this test is extremely complex and therefore it is often externalised.
View Article and Find Full Text PDFBackground: The management of cutaneous melanoma has changed dramatically in recent years thanks to the development of tyrosine kinase and immune-checkpoint inhibitors (ICIs). Thus, multiple biomarker testing is becoming ever more important for the identification of patients who are potentially eligible for these treatments. One reliable approach to the molecular evaluation of metastatic melanoma is fine needle cytology (FNC).
View Article and Find Full Text PDF, , and gene fusions and exon 14 skipping alterations represent novel predictive biomarkers for advanced non-small-cell lung cancer (NSCLC). Therefore, testing patients for these genetic variants is crucial for choosing the best selective treatment. Over the last couple of decades, next-generation sequencing (NGS) platforms have emerged as an extremely useful tool for detecting these variants.
View Article and Find Full Text PDFBreast cancer-associated fibroblasts (BCAFs), the most abundant non-cancer stromal cells of the breast tumor microenvironment (TME), dramatically sustain breast cancer (BC) progression by interacting with BC cells. BCAFs, as well as myofibroblasts, display an up regulation of activation and inflammation markers represented by α-smooth muscle actin (α-SMA) and cyclooxygenase 2 (COX-2). BCAF aggregates have been identified in the peripheral blood of metastatic BC patients.
View Article and Find Full Text PDFIn the era of personalised medicine, testing for an increasing number of predictive biomarkers is becoming a priority. However, tissue biopsies from these patients are oftentimes insufficient for conventional approaches, a common issue that deprives them of the clinical benefits of biomarker-directed treatments. To tackle this problem, many clinical laboratories are resorting to circulating tumour DNA (ctDNA), which is becoming increasingly appreciated as a valuable source for biomarker testing.
View Article and Find Full Text PDFDNA mismatch repair complex is involved in the maintenance of DNA stability. In the recent years, a plethora of technical approaches for microsatellite instability (MSI) analysis emerged. Here, we review the results of our MSI status evaluation by adopting a customised workflow on microfluidic system obtained in 4 years of diagnostic routine practice.
View Article and Find Full Text PDFClinical pathway of an intracardiac hematoma treated by ECMO support.
View Article and Find Full Text PDFAdolescents and young people represent a growing proportion of people living with HIV (AYAHIV), and there is an urgent need to design, implement, and test interventions that retain AYAHIV in care. Using a human-centered design (HCD) approach, we codesigned CombinADO, an intervention to promote HIV viral suppression and improve antiretroviral therapy (ART) adherence and retention in care among AYAHIV in Nampula, Mozambique. The HCD process involves formative design research with AYAHIV, health care providers, parents/caretakers, and experts in adolescent HIV; synthesis of findings to generate action-oriented insights; ideation and prototyping of intervention components; and a pilot study to assess feasibility, acceptability, and uptake of intervention components.
View Article and Find Full Text PDFExpert Rev Endocrinol Metab
March 2022
Background: Rearranged during transfection () gene fusions are detected in 10-20% of thyroid cancer patients. Recently, fusion-positive metastatic thyroid cancers have attracted much attention owing to the FDA approval of two highly selective anti-RET tyrosine kinase inhibitors, namely, selpercatinib, and pralsetinib.
Areas Covered: This review summarizes the available evidence on the biological and predictive role of gene fusions in thyroid carcinoma patients and the latest screening assays currently used to detect these genomic alterations in histological and cytological specimens.
Objective: In this review, we evaluate the role of liquid biopsy in managing lung cancer patients during the still ongoing coronavirus disease 2019 (COVID-19) healthcare emergency.
Background: The novel influenza coronavirus (severe acute respiratory syndrome coronavirus or SARS-CoV-2) has upended several aspects of our lives, including medical activities. In this setting, many routine cancer diagnostic and therapeutic procedures have been suspended, leading to delays in diagnosis, treatments, and, ultimately, increases in cancer mortality rates.
JACC Basic Transl Sci
October 2021
Thoracic aortic aneurysms (TAA) pathogenesis and progression include many mechanisms. The authors investigated the role of autophagy, oxidative stress, and endothelial dysfunction in 36 TAA patients and 23 control patients. Univariable and multivariable analyses were performed.
View Article and Find Full Text PDFTumor interstitial fluid (TIF) surrounds and perfuses tumors and collects ions, metabolites, proteins, and extracellular vesicles secreted by tumor and stromal cells. Specific metabolites, accumulated within the TIF, could induce metabolic alterations of immune cells and shape the tumor microenvironment. We deployed a metabolomic approach to analyze the composition of melanoma TIF and compared it to the plasma of C57BL6 mice, engrafted or not with B16-melanoma cells.
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