Abstract:
:Intestinal-type sinonasal adenocarcinoma (ITAC) is a rare tumor carrying poor prognosis and needing new treatment options. The aim of this study was to identify actionable gene mutations that can guide new personalized target-specific therapies in ITAC patients. A series of 48 tumor and 27 corresponding germline DNA samples were analyzed by next generation sequencing using a panel of 120 genes. In total, 223 sequence variants were found in 70 genes. Matched tumor/germline comparison in 27 cases revealed that 57% were in fact germline variants. In 20 of these 27 cases, 58 somatic variants in 33 different genes were identified, the most frequent being PIK3CA (5 cases), APC and ATM (4 cases), and KRAS, NF1, LRP1B and BRCA1 (3 cases). Many of the somatic gene variants affected PI3K, MAPK/ERK, WNT and DNA repair signaling pathways, although not in a mutually exclusive manner. None of the alterations were related to histological ITAC subtype, tumor stage or survival. Our data showed that thorough interpretation of somatic mutations requires sequencing analysis of the corresponding germline DNA. Potentially actionable somatic mutations were found in 20 of 27 cases, 8 of which being biomarkers of FDA-approved targeted therapies. Our data implicate new possibilities for personalized treatment of ITAC patients.
journal_name
Sci Repjournal_title
Scientific reportsauthors
Sánchez-Fernández P,Riobello C,Costales M,Vivanco B,Cabal VN,García-Marín R,Suárez-Fernández L,López F,Cabanillas R,Hermsen MA,Llorente JLdoi
10.1038/s41598-020-80242-zsubject
Has Abstractpub_date
2021-01-26 00:00:00pages
2247issue
1issn
2045-2322pii
10.1038/s41598-020-80242-zjournal_volume
11pub_type
杂志文章abstract::The rapid increase in use of electronic-cigarettes (e-cigarettes), especially among youth, raises the urgency for regulating bodies to make informed decisions, guidance, and policy on these products. This study evaluated cardiac function in an experimental model following exposure to e-cigarettes. We subjected C57BL/6...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-40847-5
更新日期:2019-03-11 00:00:00
abstract::The ideal type of stent utilized at index endoscopic retrograde cholangiopancreatography (ERCP) in management of malignant hilar obstruction (MHO) remains unclear. We aimed to determine the ideal stent choice in patients with MHO. In this retrospective study, patients with unresectable MHO were separated into the plas...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-48384-x
更新日期:2019-09-13 00:00:00
abstract::We investigated the mechanism with which humans estimate numerical averages. Participants were presented with 4, 8 or 16 (two-digit) numbers, serially and rapidly (2 numerals/second) and were instructed to convey the sequence average. As predicted by a dual, but not a single-component account, we found a non-monotonic...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep10415
更新日期:2015-06-04 00:00:00
abstract::Cardiorenal syndrome, de novo renal pathology arising secondary to cardiac insufficiency, is clinically recognised but poorly characterised. This study establishes and characterises a valid model representative of Type 2 cardiorenal syndrome. Extensive permanent left ventricular infarction, induced by ligation of the ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-58071-x
更新日期:2020-01-27 00:00:00
abstract::Epithelial-to-mesenchymal transition (EMT) is a biological process in which epithelial cells translate into a mesenchymal phenotype with invasive capacities, contributing to tumour progression, metastasis, and the acquisition of chemotherapy resistance. To identify new therapeutic targets for cancers, it is important ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-16555-3
更新日期:2017-11-27 00:00:00
abstract::This study contrasted the impact of Tai Chi Chuan and general aerobic exercise on brain plasticity in terms of an increased grey matter volume and functional connectivity during structural magnetic resonance imaging (sMRI) and resting-state functional magnetic resonance imaging (rs-fMRI), explored the advantages of Ta...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-53731-z
更新日期:2019-11-21 00:00:00
abstract::In the current study, we aimed to investigate whether NADPH oxidase, a major ROS-producing enzyme, was involved in the antioxidant effect of acupuncture on cognitive impairment after cerebral ischaemia. The cognitive function, infract size, neuron cell loss, level of superoxide anion and expression of NADPH oxidase su...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep17981
更新日期:2015-12-10 00:00:00
abstract::One-carbon metabolism is essential for multiple cellular processes and can be assessed by the concentration of folate metabolites in the blood. One-carbon metabolites serve as methyl donors that are required for epigenetic regulation. Deficiencies in these metabolites are associated with a variety of poor health outco...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-35111-1
更新日期:2018-11-15 00:00:00
abstract::Whether the stress-loading of faults to failure in earthquakes appears to be random or to an extent explainable, given constraints on fault/shear-zone interaction and the build-up and release of stress over many earthquake cycles, is a key question for seismic hazard assessment. Here we investigate earthquake recurren...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-69681-w
更新日期:2020-07-29 00:00:00
abstract::Active methane seepage occurs congruent with a high density of up to 1 km-wide and 35 m deep seafloor craters (>100 craters within 700 km2 area) within lithified sedimentary rocks in the northern Barents Sea. The crater origin has been hypothesized to be related to rapid gas hydrate dissociation and methane release ar...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-65018-9
更新日期:2020-05-21 00:00:00
abstract::The striped venus (Chamelea gallina) is an important economic resource in the Mediterranean Basin; this species has exhibited a strong quantitative decline in the Adriatic Sea. The aim of this work was to provide a comprehensive view of the biological status of C. gallina to elucidate the bioecological characteristics...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-75984-9
更新日期:2020-11-05 00:00:00
abstract::Pyroclastic density currents are one of the most devastating volcanic hazards. Understanding their dynamics is a key to develop successful hazard mitigation strategies. The hazard associated with pyroclastic density currents is commonly investigated a posteriori from their deposits or a priori using analogue and numer...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-43620-w
更新日期:2019-05-14 00:00:00
abstract::Monilinia laxa is an important fungal plant pathogen causing brown rot on many stone and pome fruits worldwide. Mitochondrial genome (mitogenome) plays a critical role in evolutionary biology of the organisms. This study aimed to characterize the complete mitogenome of M. laxa by using next-generation sequencing and a...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-70611-z
更新日期:2020-08-12 00:00:00
abstract::The objective of this study was to investigate associations between education in early life and cognitive impairment in later life in Colombia. Participants were community-dwelling adults aged 60 years or older from the National Study of Health, Wellbeing and Ageing. Trained interviewers administered a shorter version...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-74822-2
更新日期:2020-10-19 00:00:00
abstract::Microbeam radiation therapy is a novel preclinical technique, which uses synchrotron-generated X-rays for the treatment of brain tumours and drug-resistant epilepsies. In order to safely translate this approach to humans, a more in-depth knowledge of the long-term radiobiology of microbeams in healthy tissues is requi...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-14757-3
更新日期:2017-10-30 00:00:00
abstract::Adding fluoride into bioactive glasses leads to fluorapatite formation and a decrease in glass transition temperature. Recently, chloride has been introduced into glasses as an alternative to fluoride. The presence of the large chloride ion lowers glass crystallisation tendency and increases glass molar volume, which ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-018-19544-2
更新日期:2018-01-22 00:00:00
abstract::Spirometry is required to confirm a chronic obstructive pulmonary disease (COPD) diagnosis, but it is difficult to perform in resource-limited settings. This study aimed to evaluate symptom-based questions for screening of individuals with COPD among Chinese populations. We recruited 3969 adult subjects from the First...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep30419
更新日期:2016-07-26 00:00:00
abstract::The transition metal dichagenides and their metallic 1T structure are attracting contemporary attentions for applications in high-performance devices because their peculiar optical and electrical properties. The single and few layers 1T structure is generally obtained by mechanical or chemical exfoliation. This work p...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep45608
更新日期:2017-04-13 00:00:00
abstract::Lipases are interfacially activated enzymes that catalyze the hydrolysis of ester bonds and constitute prime candidates for industrial and biotechnological applications ranging from detergent industry, to chiral organic synthesis. As a result, there is an incentive to understand the mechanisms underlying lipase activi...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-019-52539-1
更新日期:2019-11-07 00:00:00
abstract::The advent of random start protocols to shorten the time needed to store oocytes in women with malignancies has represented an important improvement in the field of fertility preservation. However, Randomized Controlled Trials are difficult to implement in this area and available evidence that supports this approach r...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-67151-x
更新日期:2020-06-22 00:00:00
abstract::We study the entanglement structure and the topological edge states of the ground state of the spin-1/2 XXZ model with bond alternation. We employ parity-density matrix renormalization group with periodic boundary conditions. The finite-size scaling of Rényi entropies S2 and S∞ are used to construct the phase diagram ...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep26453
更新日期:2016-05-24 00:00:00
abstract::The aims of this study were to explore whether DNA methylation at INSR and IGF2 mediated the association of prenatal exposure to the Chinese great famine with adulthood waist circumference (WC) and BMI. A total of 235 subjects were selected into the present study from severely affected province and a neighbor province...
journal_title:Scientific reports
pub_type: 历史文章,杂志文章
doi:10.1038/s41598-020-69120-w
更新日期:2020-07-22 00:00:00
abstract::Bats have been shown as important mammal resevoirs to carry a variety of zoonotic pathogens. To analyze pathogenic species in bats from southeast coastal regions of China, we performed metagenomic sequencing technology for high throughput sequencing of six sentinels from southeast coastal area of China. We obtained 5,...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-11384-w
更新日期:2017-09-07 00:00:00
abstract::Plasmodium falciparum merozoite invasion into erythrocytes is an essential step of the blood-stage cycle, survival of parasites, and malaria pathogenesis. P. falciparum merozoite Rh5 interacting protein (PfRipr) forms a complex with Rh5 and CyRPA in sequential molecular events leading to erythrocyte invasion. Recently...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-63611-6
更新日期:2020-04-20 00:00:00
abstract::The neurology of male sexuality has been poorly studied owing to difficulties in studying brain circuitry in humans. Dopamine (DA) is essential for both physiological and behavioural responses, including the regulation of sexuality. Previous studies have revealed that alterations in DA synthesis in dopaminergic neuron...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep44595
更新日期:2017-03-15 00:00:00
abstract::Macrophage infiltration and recruitment in breast tumors has been correlated with poor prognosis in breast cancer patients and has been linked to tumor cell dissemination. Much of our understanding comes from animal models in which macrophages are labeled by expression of an extrinsic fluorophore. However, conventiona...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep25086
更新日期:2016-05-25 00:00:00
abstract::A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper. ...
journal_title:Scientific reports
pub_type: 已发布勘误
doi:10.1038/s41598-018-26061-9
更新日期:2018-05-15 00:00:00
abstract::P130CAS/BCAR1 belongs to the CAS family of adaptor proteins, with important regulatory roles in cell migration, cell cycle control, and apoptosis. Previously, we and others showed that P130CAS mediates VEGF-A and PDGF signalling in vitro, but its cardiovascular function in vivo remains relatively unexplored. We charac...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-020-71753-w
更新日期:2020-09-24 00:00:00
abstract::Light, as the energy source in photosynthesis, is essential for plant growth and development. Extended darkness causes dramatic gene expression changes. In this study, we applied DNase-seq (DNase I hypersensitive site sequencing) to study changes of chromatin accessibility in euchromatic and heterochromatic regions un...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/s41598-017-04524-9
更新日期:2017-06-22 00:00:00
abstract::Non-destructive measurements of deformations are a quite common application of holography but due to the intrinsic limits in the interferometric technique, those are generally confined only to small targets and in controlled environment. Here we present an advanced technique, based on Mid Infrared Digital Holography (...
journal_title:Scientific reports
pub_type: 杂志文章
doi:10.1038/srep23688
更新日期:2016-04-01 00:00:00