scholarly journals Beyond Traditional Morphological Characterization of Lung Neuroendocrine Neoplasms: In Silico Study of Next-Generation Sequencing Mutations Analysis across the Four World Health Organization Defined Groups

Cancers ◽  
2020 ◽  
Vol 12 (10) ◽  
pp. 2753 ◽  
Author(s):  
Giovanni Centonze ◽  
Davide Biganzoli ◽  
Natalie Prinzi ◽  
Sara Pusceddu ◽  
Alessandro Mangogna ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
World Health Organization ◽  
World Health ◽  
Neuroendocrine Neoplasms ◽  
Sequencing Analysis ◽  
Next Generation ◽  
Typical Carcinoid ◽  
Mutational Status ◽  
Health Organization ◽  
Generation Sequencing

Lung neuroendocrine neoplasms (LNENs) represent a rare and heterogeneous population of lung tumors. LNENs incidence rate has increased dramatically over the past 30 years. The current World Health Organization LNENs classification (WHO 2015), distinguished four LNENs prognostic categories, according to their morphology, necrosis amount and mitotic count: typical carcinoid (TC), atypical-carcinoid (AC), large cell neuroendocrine carcinoma (LCNEC) and small cell lung cancer (SCLC). At present, due to their rarity and biological heterogeneity there is still no consensus on the best therapeutic approach. Next-generation-sequencing analysis showed that WHO 2015 LNENs classes, could be characterized also by specific molecular alterations: frequently mutated genes involving chromatin remodeling and generally characterized by low mutational burden (MB) are frequently detected in both TC and AC; otherwise, TP53 and RB1 tumor suppressor genes alterations and high MB are usually detected in LCNEC and SCLC. We provide an overview concerning gene mutations in each WHO 2015 LNENs class in order to report the current LNENs mutational status as potential tool to better understand their clinical outcome and to drive medical treatment.

Mutational Profile Using Next-Generation Sequencing May Aid in the Diagnosis and Treatment of Urachal Adenocarcinoma

2019 ◽  
Vol 28 (1) ◽  
pp. 51-59
Author(s):  
Kristine M. Cornejo ◽  
Ediz F. Cosar ◽  
Gladell P. Paner ◽  
Ping Yang ◽  
Keith Tomaszewicz ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Signet Ring Cell ◽  
Sequencing Analysis ◽  
Next Generation ◽  
Mutational Status ◽  
Study Results ◽  
Signet Ring ◽  
Ring Cell ◽  
Urachal Adenocarcinoma ◽  
Generation Sequencing

Objectives. The rare urachal adenocarcinoma (UAC) of the bladder has striking morphologic and immunohistochemical overlap with colorectal adenocarcinoma (CAC) and bladder adenocarcinoma (BAC). To date, the mutational status in UAC and BAC has not been well investigated. Methods. We retrospectively evaluated 34 UACs (mucinous, n = 9; intestinal, n = 3; signet ring cell, n = 1; not otherwise specified, n = 21) and 4 BACs (n = 4). Next-generation sequencing analysis of 50 cancer “hotspot” gene mutations using the Ampliseq Cancer Hotspot Panel v2 was performed. Two UAC cases did not have adequate DNA quality with poor sequencing coverage and were excluded from the study. Results. RAS mutations were identified in 16 of 32 (50%) UACs (15 KRAS; 1 NRAS) and none of the BACs (0%). TP53 mutations were found in both UACs (18/32; 56%) and BACs (4/4; 100%). GNAS (n = 4), SMAD4 (n = 3), and BRAF (n = 1) mutations were only found in UACs. In contrast, APC (n = 2) mutations were only found in BACs. The mucinous subtype of UAC contained a SMAD4 mutation in 33% of cases (3/9), which was not identified in any other subtype (0/23; 0%) ( P = .0169). The only BRAF mutation was identified in the single signet ring cell subtype of UAC. There were no other differences in the mutation profile when comparing histologic subtypes of UAC. Conclusions. In summary, UAC and BAC have overlapping but distinct mutation profiles and these differences may aid in separating these 2 entities. Next-generation sequencing to identify therapeutic targets or resistance markers may aid treatment decisions.

Next-generation sequencing of the TET2 gene in 355 MDS and CMML patients reveals low-abundance mutant clones with early origins, but indicates no definite prognostic value

Blood ◽  
2010 ◽  
Vol 116 (19) ◽  
pp. 3923-3932 ◽  
Author(s):  
Alexander E. Smith ◽  
Azim M. Mohamedali ◽  
Austin Kulasekararaj ◽  
ZiYi Lim ◽  
Joop Gäken ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Bone Marrow Cells ◽  
Clonal Evolution ◽  
Prognostic Significance ◽  
World Health ◽  
International Prognostic Scoring System ◽  
Next Generation ◽  
Total Bone Marrow ◽  
Health Organization ◽  
Generation Sequencing

Abstract Mutations in the TET2 gene are frequent in myeloid disease, although their biologic and prognostic significance remains unclear. We analyzed 355 patients with myelodysplastic syndromes using “next-generation” sequencing for TET2 aberrations, 91 of whom were also subjected to single-nucleotide polymorphism 6.0 array karyotyping. Seventy-one TET2 mutations, with a relative mutation abundance (RMA) ≥ 10%, were identified in 39 of 320 (12%) myelodysplastic syndrome and 16 of 35 (46%) chroni myelomonocytic leukemia patients (P < .001). Interestingly, 4 patients had multiple mutations likely to exist as independent clones or on alternate alleles, suggestive of clonal evolution. “Deeper” sequencing of 96 patient samples identified 4 additional mutations (RMA, 3%-6.3%). Importantly, TET2 mutant clones were also found in T cells, in addition to CD34+ and total bone marrow cells (23.5%, 38.5%, and 43% RMA, respectively). Only 20% of the TET2-mutated patients showed loss of heterozygosity at the TET2 locus. There was no difference in the frequency of genome-wide aberrations, TET2 expression, or the JAK2V617F 46/1 haplotype between TET2-mutated and nonmutated patients. There was no significant prognostic association between TET2 mutations and World Health Organization subtypes, International Prognostic Scoring System score, cytogenetic status, or transformation to acute myeloid leukemia. On multivariate analysis, age (> 50 years) was associated with a higher incidence of TET2 mutation (P = .02).

scholarly journals Blood-based next-generation sequencing analysis of neuroendocrine neoplasms

Oncotarget ◽  
2020 ◽  
Vol 11 (19) ◽  
pp. 1749-1757
Author(s):  
Katerina Zakka ◽  
Rebecca Nagy ◽  
Leylah Drusbosky ◽  
Mehmet Akce ◽  
Christina Wu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Neuroendocrine Neoplasms ◽  
Sequencing Analysis ◽  
Next Generation ◽  
Next Generation Sequencing Analysis ◽  
Generation Sequencing

scholarly journals Next Generation Sequencing for the Prediction of the Antibiotic Resistance in Helicobacter pylori: A Literature Review

Antibiotics ◽  
2021 ◽  
Vol 10 (4) ◽  
pp. 437
Author(s):  
Ilaria Maria Saracino ◽  
Matteo Pavoni ◽  
Angelo Zullo ◽  
Giulia Fiorini ◽  
Tiziana Lazzarotto ◽  
...  
Keyword(s):  
Antibiotic Resistance ◽  
Next Generation Sequencing ◽  
Literature Review ◽  
Molecular Mechanisms ◽  
World Health ◽  
Next Generation ◽  
Culture Methods ◽  
Phenotypic Resistance ◽  
H Pylori ◽  
Generation Sequencing

Background and aims: Only a few antimicrobials are effective against H. pylori, and antibiotic resistance is an increasing problem for eradication therapies. In 2017, the World Health Organization categorized clarithromycin resistant H. pylori as a “high-priority” bacterium. Standard antimicrobial susceptibility testing can be used to prescribe appropriate therapies but is currently recommended only after the second therapeutic failure. H. pylori is, in fact, a “fastidious” microorganism; culture methods are time-consuming and technically challenging. The advent of molecular biology techniques has enabled the identification of molecular mechanisms underlying the observed phenotypic resistance to antibiotics in H. pylori. The aim of this literature review is to summarize the results of original articles published in the last ten years, regarding the use of Next Generation Sequencing, in particular of the whole genome, to predict the antibiotic resistance in H. pylori.Methods: a literature research was made on PubMed. The research was focused on II and III generation sequencing of the whole H. pylori genome. Results: Next Generation Sequencing enabled the detection of novel, rare and complex resistance mechanisms. The prediction of resistance to clarithromycin, levofloxacin and amoxicillin is accurate; for other antimicrobials, such as metronidazole, rifabutin and tetracycline, potential genetic determinants of the resistant status need further investigation.

scholarly journals Diagnosis of Severe Tetanus Assisted by Next-Generation Sequencing Analysis of Etiology: A Case Report

2020 ◽  
Author(s):  
Yuling An ◽  
Mingming Fan ◽  
Ziyu Li ◽  
You Peng ◽  
Xiaomeng Yi ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Comprehensive Treatment ◽  
Sequencing Analysis ◽  
Next Generation ◽  
Next Generation Sequencing Analysis ◽  
Autonomic Instability ◽  
The Right ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing ◽  
Severe Tetanus

Abstract We shared our successful treatment experience of a severe tetanus patient in China. A 50 year old male patient was admitted to our hospital 10 days after the right arm injury due to pain and masticatory weakness. The pathogen of wound secretion was confirmed to be clostridium tetanus by next-generation sequencing (NGS).The patient's condition rapidly progressed to a severe state with autonomic instability. After debridement and comprehensive treatment in ICU, including deep analgesia and sedation with dexmedetomidine, ventilator support and anti-infection treatment, the patient finally recovered and discharged. This case suggested that early diagnosis and reasonable intervention of severe tetanus could reduce mortality.

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