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

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T9600-100 100ug
EUR 262.8

Trypin for Mass & Sequencing

T9600-112 12x100ug
EUR 1988.4

Trypin for Mass & Sequencing

T9600-400 4x100ug
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C4001-100 100ug
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pOET Sequencing Primers

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IB47035 2 X 96 WELL FORMAT KIT
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IB47040 4 X 96 WELL FORMAT KIT
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PCR DNA CLEAN-UP KIT

IB47050 10 X 96 WELL FORMAT KIT
EUR 1425.45

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ESEQ1100-SYS ea
EUR 1842

Sequencing Grade Chymotrypsin

RE013 100ug
EUR 309

sequencing system 20x50 cm

ESEQ1200-SYS ea
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Sequencing Grade V8 Protease

RE014 50ug
EUR 209

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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Sequencing Grade Modified Trypsin

RE012 100ug
EUR 229

Sequencing Grade Carboxypeptidase B

RE011 100ug
EUR 99

ACES Sequencing Buffer 10X, pH 7.7

21420000-1 1 L
EUR 138.62

ACES Sequencing Buffer 10X, pH 7.7

21420000-2 4 L
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SequaGel Sequencing System 1L Kit - 1KIT

NAT1136 1KIT
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SequaGel Sequencing System 2.2L Kit - EACH

NAT1138 EACH
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IBOTRYSEQ100UG each
EUR 148
Description: Bovine Trypsin Purified Sequencing Grade

Bovine Trypsin Purified Sequencing Grade

IBOTRYSEQ1MG each
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Description: Bovine Trypsin Purified Sequencing Grade

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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

Bovine Trypsin Purified Sequencing Grade Lyophilized

IBOTRYSEQLY400UG each
EUR 344
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MagaDye™ 4 Color Sanger Sequencing Terminator Kit

17068 5 nmoles
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PCR Clean-up Kit,

PC05 5 preps Ask for price

PCR Clean-up Kit,

PC100 100 preps
EUR 156

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

IBCTV8SEQLY50UG each
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FAPCK-001 50 preps
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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
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FAPCK_001-1 1 kit
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FAPKE-96001 1 prep
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FAPKE-96002 2 preps
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Zenoquick DNA Clean & Concentrator-5

Z2001-050 50 prpe
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GR101080 50
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GR101080-100 100
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GR101081 200
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P-1068 50 Preparations
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Gel Permeation Clean Up Calibration Standard - 5ML

GPC-CAL-91 5ML
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Tips PCR Clean 50uL 103 mm dark green 10x96 - EACH

E0030073649 EACH
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Combitips Adv. PCR Clean 1.0ml 4 packs of 25 - PK100

E0030089790 PK100
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E0030089804 PK100
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E0030089820 PK100
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E0030089839 PK100
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E0030089847 PK100
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E0030118502 EACH
EUR 135

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E0030122500 EACH
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Automatic FillDrain for Clean Steam for Rodwell autoclaves - EACH

AUT1351 EACH
EUR 2619

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

E0030108302 EACH
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Electrode Clean Sol Pepsin/HCl for Removal of Proteins - 1L

ECSF 1L
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Electrode Clean Sol Pepsin/HCl for Removal of Proteins - 250ML

ECS-250ML 250ML
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Electrode Clean Sol Pepsin/HCl for Removal of Proteins - 100ML

ECS1 100ML
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VAHTS RNA Clean Beads

N412-01 5 ml
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VAHTS RNA Clean Beads

N412-02 40 ml
EUR 340

VAHTS RNA Clean Beads

N412-03 450 ml
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gelcaster for sequencer

ESEQ1000-CAST ea
EUR 524.4

Lancer Clean Detergent - 10L

CLE1136 10L
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RNA Clean and Concentrator Kit

K1069-20 20 preps
EUR 88
Description: Efficient RNA purification kit

Electrode Clean Sol Organic - 5L

OECS5 5L
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T-Pro Aqua EZ Clean (M)

JT90-R001M 500ml/BT
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JT90-R001S 100ml/BT
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20 bp random library with flanking sequence; DNA aptamer

DAL-N-20 100 ug
EUR 343.2

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DAL-N-30 100 ug
EUR 416.4

40 bp random library with flanking sequence; DNA aptamer

DAL-N-40 100 ug
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PCR magnetic Cleanup

TBS6029-200 200 Tests
EUR 189

Mouse GC- rich sequence DNA- binding factor, Tcf9 ELISA KIT

ELI-12525m 96 Tests
EUR 1038

Human GC- rich sequence DNA- binding factor, TCF9 ELISA KIT

ELI-27490h 96 Tests
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GC-Rich Sequence DNA-Binding Factor 1 (GCFC1) Antibody

20-abx217653
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GC-Rich Sequence DNA-Binding Factor 1 (GCFC1) Antibody

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

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

abx375543-96tests 96 tests
EUR 337.5

Adhesive PCR Plate Clear Films for PCR Applications

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Mouse GC- rich sequence DNA- binding factor 1, Gcfc1 ELISA KIT

ELI-37633m 96 Tests
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West-Q Femto Clean ECL Solution

W3680-010 100ml
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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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