ATM mutations improve radio-sensitivity in wild-type isocitrate dehydrogenase-associated high-grade glioma: retrospective analysis using next-generation sequencing data

ATM mutations improve radio-sensitivity in wild-type isocitrate dehydrogenase-associated high-grade glioma: retrospective analysis using next-generation sequencing data

Background: To identify the relationship between somatic ataxia-telangiectasia mutated (ATM) mutation and improved radio-sensitivity, we retrospectively reviewed the next-generation sequencing data from patients diagnosed with glioma isocitrate dehydrogenase (IDH) -wildtype high quality.


Methods: We included 39 individuals (IDH) -wildtype high-grade glioma (diffuse astrocytoma n = 2, n = 10 anaplastic astrocytoma and glioblastoma n = 27) had no gross tumor resection and radiation therapy undergo the median total dose of 60 Gy in 30 fractions. ATM gene mutation status was obtained through generation sequencing using TruSight cancer panel 170. Tumor progression was defined by Response Assessment in Neuro-Oncology (Rano) criteria as well as neurological and clinical findings.
Results: Among the 39 samples, ATM mutations (mut ATM (+)) was detected in 26% of cases (n = 10).

No significant differences were observed in the patient or tumor characteristics. Among the 10 patients in the ATM mut (+), there are 6 patients with glioblastoma and four patients with anaplastic astrocytoma. Most mutations are missense mutations (n ​​= 8, 80%). With a median follow-up of 16.5 mo (interquartile range, 11.4 to 19.8), ATM mut (+) exhibited one year of control in the field of 100% compared with 44.1% in ATM mut (-) group (p = 0.002). There was no difference in the rate of out-of-field control or overall survival between the two groups (p = 0.861 and p = 0.247, respectively).


Conclusions: Our results indicate that ATM mutations may be involved in the increase in radio-sensitivity with good control in the field despite the aggressive nature of IDH-wildtype high-grade glioma. Further studies are needed to uncover the potential role of ATM as a candidate biomarker and therapeutic target in high-grade glioma.

 ATM mutations improve radio-sensitivity in wild-type isocitrate dehydrogenase-associated high-grade glioma: retrospective analysis using next-generation sequencing data
ATM mutations improve radio-sensitivity in wild-type isocitrate dehydrogenase-associated high-grade glioma: retrospective analysis using next-generation sequencing data

Whole-genome sequencing and Mycobacterium tuberculosis: Challenges in sample preparation and analysis of sequencing data

The number of patients with tuberculosis (TB) caused by resistant strains are still alarming. Therefore, it is necessary to determine the resilience of faster and more accurate, than with the currently used phenotypic and genotypic methods.

In recent years, technological advances have been made and the method of whole genome sequencing (WGS) has been introduced as part of routine clinical laboratory diagnostics. Comparing various mycobacterial genome variation with reference genome leads to a consistent evaluation of molecular epidemiology and resistance of Mycobacterium tuberculosis (M. tuberculosis) to a variety of anti-TB drugs.

The quality of sequencing data obtained is closely related to the type of samples and the methods used for DNA extraction and sequencing library preparation. In addition, the correct interpretation of the results is also affected by bioinformatics data processing. A large number of bioinformatics pipeline that is currently available, the sensitivity varies due to the different size of the database containing the relevant mutation. This review focuses on the individual steps in the workflow including sequencing and factors that may affect the interpretation of the final results.


comparative analysis suggests that miR-375 and miR-7 expression was substantially higher in the case of the control of non-Nen Nen. Correlation analysis showed that NENs from diverse anatomical sites have convergent program miRNA expression, may reflect the morphological and functional similarities.

TBE-Buffer 5X for DNA Sequencing

40121072-3 1 L
EUR 72.29

TBE-Buffer 5X for DNA Sequencing

40121072-4 4 L
EUR 192.14

DNA Library Prep Kit for IIlumina Sequencing

K1475-12 12 Rxns
EUR 576

Genorise® Customized PCR primers for cloning and sequencing

GR108023 2 nmol
EUR 65

Trypin for Mass & Sequencing

T9600-025 25ug
EUR 174

Trypin for Mass & Sequencing

T9600-100 100ug
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Trypin for Mass & Sequencing

T9600-112 12x100ug
EUR 1988.4

Trypin for Mass & Sequencing

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Chymotrypsin for Sequencing grade

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EUR 343.2

PCR DNA CLEAN-UP KIT

IB47035 2 X 96 WELL FORMAT KIT
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IB47040 4 X 96 WELL FORMAT KIT
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IB47050 10 X 96 WELL FORMAT KIT
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sequencing unit 33x45 cm

ESEQ1100-SYS ea
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ESEQ1200-SYS ea
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SEPTA MAT, FOR 96 WELL PCR PLATES, SILICONE, GREY, NONSTERILE, FOR ABI MULTI-CAPILLARY SEQUENCING INSTRUMENTS, BULK

AM-96-SEPTA-3100 10/pk
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SequaGel Sequencing System 1L Kit

NAT1136 1KIT
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SequaGel Sequencing System 2.2L Kit

NAT1138 EACH
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ACES Sequencing Buffer 10X, pH 7.7

21420000-1 1 L
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Description: 2- (N-morpholino) ethanesulfonic acid) buffer

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IBOTRYSEQ100UG each
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Description: Bovine Trypsin Purified Sequencing Grade

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Description: Bovine Trypsin Purified Sequencing Grade

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EpiNext Bisulfite Sequencing Kit (Illumina)

P-1056
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  • EUR 625.90
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  • 24 Reactions
  • 12 Reactions
  • 24 Reactions

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IBOTRYSEQLY100UG each
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Description: Bovine Trypsin Purified Sequencing Grade Lyophilized

Bovine Trypsin Purified Sequencing Grade Lyophilized

IBOTRYSEQLY1MG each
EUR 640
Description: Bovine Trypsin Purified Sequencing Grade Lyophilized

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Description: Bovine Trypsin Purified Sequencing Grade Lyophilized

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PCR Clean-up Kit,

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PCR Clean-up Kit,

PC200 200 preps
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PCR Clean-up Kit,

PC50 50 preps
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MagaDye™ 4 Color Sanger Sequencing Terminator Kit

17068 5 nmoles
EUR 2091

TuMinute PCR Clean-Up Kit 

P-1005
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  • EUR 90.20
  • EUR 171.60
  • 100 Samples
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IBOCHYTLCKSG100UG each
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AxyPrep Mag PCR clean up -50mL

AXY1046 EACH
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FAPCK-001 50 preps
EUR 144

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FAPCK-001-1 200 preps
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FAPCK-001-2 300 preps
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FAPCK_001 1 kit
EUR 16

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FAPCK_001-1 1 kit
EUR 54

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FAPCK_001-2 1 kit
EUR 69.5

Bacteria-Derived Clostripain (Endoproteinase-Arg-C) Sequencing Grade Purified

IBCTCLOSGPF10UG each
EUR 165
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Bacteria-Derived V8 Protease (Endoprotease Glu-C) Sequencing Grade Lyophilized

IBCTV8SEQLY250UG each
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Bacteria-Derived V8 Protease (Endoprotease Glu-C) Sequencing Grade Lyophilized

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AXY1040 EACH
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FAMPK_001-1B 1 kit
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FAMPK_001B 1 kit
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EUR 45

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E0030108051 PK250
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D516 100 Preparations
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FAPKE-96001 1 prep
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FAPKE-96002 2 preps
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N411-01 5 ml
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N411-02 60 ml
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Zenoquick DNA Clean & Concentrator-5

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Genorise® Gel DNA Purification Mini Kit-PCR Clean Kit- 50

GR101080 50
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GR101080-100 100
EUR 267

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GR101081 200
EUR 477

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Gel Permeation Clean Up Calibration Standard

GPC-CAL-91 5ML
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epT.I.P.S. G Reloads 384 PCR clean 0.1 - 20uL 42mm

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E0030072014 PK960
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E0030073649 EACH
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Combitips Adv. PCR Clean 1.0ml 4 packs of 25

E0030089790 PK100
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Combitips Adv. PCR Clean 2.5ml 4 packs of 25

E0030089804 PK100
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EpiQuik DNA Clean and Concentrator Kit

P-1068
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  • EUR 167.20
  • 50 preparations
  • 100 preparations

Combitips Adv. PCR Clean 10ml 4 packs of 25

E0030089820 PK100
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E0030089839 PK100
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E0030118502 EACH
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Automatic FillDrain for Clean Steam for Rodwell autoclaves

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Eppendorf Protein LoBind Tubes 5.0ml PCR clean 100 pcs. 2 bags of 50 tubes each

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Electrode Clean Sol Pepsin/HCl for Removal of Proteins

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Electrode Clean Sol Pepsin/HCl for Removal of Proteins

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Electrode Clean Sol Pepsin/HCl for Removal of Proteins

ECSF 1L
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Lancer Clean Detergent

CLE1136 10L
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VAHTS RNA Clean Beads

N412-01 5 ml
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N412-02 40 ml
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VAHTS RNA Clean Beads

N412-03 450 ml
EUR 4860

Electrode Clean Sol Organic

OECS5 5L
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gelcaster for sequencer

ESEQ1000-CAST ea
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Bolle COVERALL CLEAN Cleanroom Safety Goggles

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RNA Clean and Concentrator Kit

K1069-20 20 preps
EUR 110
Description: Efficient RNA purification kit

T-Pro Aqua EZ Clean (M)

JT90-R001M 500ml/BT
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JT90-R001S 100ml/BT
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PCR magnetic Cleanup

TBS6029-200 200 Tests
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Clean-Trace Biomass Detect Kit

FSA1086 PK10
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20 bp random library with flanking sequence; DNA aptamer

DAL-N-20 100 ug
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Human GC- rich sequence DNA- binding factor, TCF9 ELISA KIT

ELI-27490h 96 Tests
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Mouse GC- rich sequence DNA- binding factor, Tcf9 ELISA KIT

ELI-12525m 96 Tests
EUR 1038

GC-Rich Sequence DNA-Binding Factor 1 (GCFC1) Antibody

20-abx217653
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  • EUR 410.40
  • 100 ug
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Mouse GC- rich sequence DNA- binding factor 1, Gcfc1 ELISA KIT

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Human GC- rich sequence DNA- binding factor 1, GCFC1 ELISA KIT

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Adhesive PCR Plate Clear Films for PCR Applications

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5-min. Genomic DNA Prep for PCR

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VAHTS PCR-Free DNA Adapters for MGI

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Edwards Clean and Overhaul Kit RV3 12

PUM5016 EACH
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3`UTR clone of DNA segment on chromosome 4 (unique) 234 expressed sequence (D4S234E) transcript variant 1 for miRNA target validation

SC215682 10 µg Ask for price

3`UTR clone of DNA segment on chromosome 4 (unique) 234 expressed sequence (D4S234E) transcript variant 2 for miRNA target validation

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Kinesis TELOS QuEChERS Clean-up Kit Dispersive Fruit and Veg; EN 15662; 150mg MgSO4 and 25mg PSA; 2ml

CHR6480 PK100
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SEPTA CAP, INDIVIDUAL, FOR 0.5 ML SEQUENZER TUBES, SILICONE, GREY, NONSTERILE, FOR ABI PRISM 310 SEQUENCER, BULK

AM-SEPTA-310 500/pk
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Description: Sealing Products; Sealing mats - Axygen

Kinesis TELOS QuEChERS Clean-up Kit Dispersive Fruit and Veg; AOAC 2007.01; 150mg MgSO4 and 50mg PSA;2ml

CHR6478 PK100
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Using machine learning approach, we identified 17 miRNAs to distinguish 15 Nen type of pathological and then build a classifier multilayer, correctly identified 217 (98%) of the 221 samples and overturning a histological diagnosis.

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