scholarly journals Case Report: Two Cases of Metastatic Pancreatoblastoma in Adults: Efficacy of Folfirinox and Implication of the Wnt/β-Catenin Pathway in Genomic Analysis

2021 ◽  
Vol 11 ◽  
Author(s):  
Jean-Luc Raoul ◽  
Sandrine Oziel-Taieb ◽  
Thierry Lecomte ◽  
José Adelaide ◽  
Arnaud Guille ◽  
...  
Keyword(s):  
Case Report ◽  
Partial Response ◽  
Disease Control ◽  
High Throughput ◽  
Young Women ◽  
Systemic Chemotherapy ◽  
High Throughput Sequencing ◽  
Genomic Analysis ◽  
General Status

Pancreatoblastomas are unfrequent tumors usually found in children. We report two cases of metastatic pancreatoblastomas observed in young women. A systemic chemotherapy (FOLFIRINOX regimen) was associated with a disease control in one case and a partial response in the second with an improvement of general status for both. A high-throughput sequencing of the tumor described in both cases alteration in the Wnt/β-catenin pathway: a mutation in CTNNB1 (exon 3, c.110C>G, p.S37C, reported as a hotspot in COSMIC) in one case and a homozygous loss associated with breakage targeting APC (5q22.2) in the second.

scholarly journals How Do We Define the Genomic Landscape?

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. SCI-13-SCI-13
Author(s):  
Sandeep S. Dave
Keyword(s):  
High Throughput ◽  
High Throughput Sequencing ◽  
Conflicts Of Interest ◽  
Genomic Analysis ◽  
Future Directions ◽  
Tissue Samples ◽  
Genomic Landscape ◽  
Fresh Frozen ◽  
Definition Of ◽  
Formalin Fixed

High throughput sequencing is a revolutionary technology for the definition of the genomic features of tumors. This talk will provide a review of the relevant methodologies for non-experts in the field. The presentation will include a discussion of how high throughput sequencing is performed, its relative strengths and weaknesses, and how it is applicable to formalin-fixed and fresh/frozen tissue samples. The talk will also describe future directions in the genomic analysis of tumors. Disclosures No relevant conflicts of interest to declare.

scholarly journals Building Genomic Analysis Pipelines in a Hackathon Setting with Bioinformatician Teams: DNA-seq, Epigenomics, Metagenomics and RNA-seq

2015 ◽  
Author(s):  
Ben Busby ◽  
Allissa Dillman ◽  
Claire L. Simpson ◽  
Ian Fingerman ◽  
Sijung Yun ◽  
...  
Keyword(s):  
Web Service ◽  
High Throughput ◽  
High Throughput Sequencing ◽  
Genomic Analysis ◽  
National Institutes Of Health ◽  
Rna Seq ◽  
Sequencing Data ◽  
Collaborative Software ◽  
High Throughput Sequencing Data ◽  
Collaborative Software Development

We assembled teams of genomics professionals to assess whether we could rapidly develop pipelines to answer biological questions commonly asked by biologists and others new to bioinformatics by facilitating analysis of high-throughput sequencing data. In January 2015, teams were assembled on the National Institutes of Health (NIH) campus to address questions in the DNA-seq, epigenomics, metagenomics and RNA-seq subfields of genomics. The only two rules for this hackathon were that either the data used were housed at the National Center for Biotechnology Information (NCBI) or would be submitted there by a participant in the next six months, and that all software going into the pipeline was open-source or open-use. Questions proposed by organizers, as well as suggested tools and approaches, were distributed to participants a few days before the event and were refined during the event. Pipelines were published on GitHub, a web service providing publicly available, free-usage tiers for collaborative software development (https://github.com/features/). The code was published at https://github.com/DCGenomics/ with separate repositories for each team, starting with hackathon_v001.

scholarly journals Identification and genomic analysis of a novel member of Microviridae, IME-16, through high-throughput sequencing

2015 ◽  
Vol 30 (4) ◽  
pp. 301-304 ◽  
Author(s):  
Peng Shu ◽  
Azeem Mehmood Butt ◽  
Zhiqiang Mi ◽  
Wei Wang ◽  
Xiaoping An ◽  
...  
Keyword(s):  
High Throughput ◽  
High Throughput Sequencing ◽  
Genomic Analysis

scholarly journals Prolonged survival with systemic chemotherapy in an advanced malignant mesothelioma: A case report

Rare Tumors ◽  
2021 ◽  
Vol 13 ◽  
pp. 203636132098452
Author(s):  
Mohamed Amine Elghali ◽  
Rym Bourigua ◽  
Imtinene Belaid ◽  
Salsabil Nasri ◽  
Sara Mestiri ◽  
...  
Keyword(s):  
Overall Survival ◽  
Case Report ◽  
Partial Response ◽  
Malignant Mesothelioma ◽  
Systemic Chemotherapy ◽  
Performance Status ◽  
Rare Tumors ◽  
Specialized Center ◽  
Average Survival

Peritoneal mesotheliomas are very rare tumors. Their prognosis is poor, average survival does not exceed 1 year after peritoneal cytoreduction. Systemic chemotherapy is considered to have no proven value in the management of peritoneal mesotheliomas. Objective responses with systemic chemotherapy are very rare. We report here a case of an advanced peritoneal mesothelioma which achieved an unexpected partial response with chemotherapy, allowing the patient to have a right colectomy. The patient was referred to a specialized center on HIPEC, but taking in account the long awaiting interval, the HIPEC was judged to be inefficient and then the poursuit of 6 cycles of systemic chemotherapy was decided. The patient is still alive without any symptom and with a good performance status at 59 months after diagnosis. Throughout our case, we provide an encouraging evidence of the role of initial systemic chemotherapy in the downstaging of initially unresectable primary malignant mesothelioma and in the improvement of overall survival.

scholarly journals Change of dominant strain during dual SARS-CoV-2 infection

2020 ◽  
Author(s):  
AE Samoilov ◽  
VV Kaptelova ◽  
AY Bukharina ◽  
OY Shipulina ◽  
EV Korneenko ◽  
...  
Keyword(s):  
Viral Load ◽  
High Throughput ◽  
Relative Abundance ◽  
High Throughput Sequencing ◽  
Genomic Analysis ◽  
Strain Ratio ◽  
High Viral Load ◽  
Dual Infection ◽  
Disease Manifestation ◽  
Lobar Pneumonia

SummaryBackgroundThe effect of SARS-CoV-2 mutations and viral load on the severity of COVID-19 is not well understood. The possibility of reinfection with SARS-CoV-2 has already been reported, but dual infection with SARS-CoV-2 is poorly described and is currently under discussion. We describe a study of two strains of SARS-CoV-2 detected in the same patient during the same disease presentation.MethodsTwo nasopharyngeal swabs were obtained eight days apart from the patient in their 90s, diagnosed with lobar pneumonia (J18.1). Both tests were positive for SARS-CoV-2 with high viral load (Ct = 13). We have performed high-throughput sequencing of SARS-CoV-2 genomes from both swabs.FindingsGenomic analysis of SARS-CoV-2 revealed the presence of two genetically distant strains in both swabs. Detected strains belong to different phylogenetic clades (GH and GR) and differ in the seven nucleotide positions. The relative abundance of strains was 70% (GH) and 30% (GR) in the first swab, and 3% (GH) and 97% (GR).InterpretationOur findings suggest that the patient was infected by two genetically distinct SARS-CoV-2 strains at the same time. One of the possible explanations is that the second infection occurred in the hospital. Change of the dominant strain ratio during disease manifestation could be explained by the advantage or higher virulence of the strain belonging to the clade GR.

scholarly journals Online Resources for Genomic Analysis Using High-Throughput Sequencing

2015 ◽  
Vol 2015 (4) ◽  
pp. pdb.top083667 ◽  
Author(s):  
Daniel Blankenberg ◽  
James Taylor ◽  
Anton Nekrutenko
Keyword(s):  
High Throughput ◽  
High Throughput Sequencing ◽  
Genomic Analysis ◽  
Online Resources
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