MassARRAY, pyrosequencing, and PNA clamping for EGFR mutation detection in lung cancer tissue and cytological samples: a multicenter study

Min, Kyueng‐Whan; Kim, Wan-Seop; Jang, Se Jin; Choi, Yoo Duk; Chang, Sunhee; Jung, Soon Hee; Kim, Lucia; Roh, Mee‐Sook; Lee, Choong-Sik; Shim, Jung Weon; Kim, Mi Jin; Lee, Geon Kook

doi:10.1007/s00432-016-2211-7

“…In the last several years, the range of applications for this platform was significantly expanded. In a multicenter study concerning patients with lung adenocarcinoma suspected of EGFR mutation, when comparing MassARRAY with pyrosequencing and PNAc, it was indicated that MassARRAY has a higher accuracy for the detection of EGFR mutations in tissue specimens (Min et al, 2016). In another meta-analysis, Tania et, al.…”

Section: Clopidogrel Metabolism Phenotypementioning

confidence: 99%

Comparison between MassARRAY and pyrosequencing for CYP2C19 and ABCB1 gene variants of clopidogrel efficiency genotyping

Liu

¹

,

Xu

²

,

Li

³

et al. 2019

Molecular Membrane Biology

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Clopidogrel is one of the most frequently used drugs in patients to reduce cardiovascular events. Since patients with different genetic variations respond quite differently to clopidogrel therapy, the related genetic testing plays a vital role in its dosage and genetic testing related to clopidogrel therapy is currently considered as routine test worldwide. In this study, we aim to use two different methods MALDI-TOF mass spectrometry and pyrosequencing to detect gene variant of CYP2C19 and ABCB1. Six single nucleotides polymorphisms (SNP) within CYP2C19 (Ã 2, Ã 3, Ã 4, Ã 5, Ã 17) and ABCB1 C3435T in 458 Chinese Han patients were determined using both MassARRAY and Pyrosequencing. Sanger sequencing was used for verification. Results of both methods were analyzed and compared. Allele frequencies of each SNP and distribution of different genotypes were calculated based on the MassARRAY and Sanger sequencing results. Both methods provided 100% call rates for gene variants, while results of six samples were different with two methods. With Sanger sequencing as the reference results, MassARRAY generated all the same results. The minor allele frequencies of the above six SNPs were 27.1% (CYP2C19 Ã), 5.9% (CYP2C19 Ã 3), 0% (CYP2C19 Ã 4), 0% (CYP2C19 Ã 5), 1.1% (CYP2C19 Ã 17), 40.9% (ABCB1), respectively. MassARRAY provides accurate clopidogrel related genotyping with relatively high cost-efficiency, throughput and short time when compared with pyrosequencing.

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“…Statins are currently effective in the treatment of T2DM and lowering blood lipids [14,15,28]. Polymorphisms of multiple genes that may be associated with therapeutic e cacy were detected by the Agena Bioscience MassARRAY system before patient treatment [24]. The research showed that CYP2C9*3 (1075A > C) is concerned with the uvastatin pharmacokinetics in Chinese individuals [18], HMGCR mutations cause total cholesterol and LDL-C levels to decrease [20], and the SLCO1B1 c.521T > C variant distinctly increases exposure to simvastatin acid [21].…”

Section: Discussionmentioning

confidence: 99%

MassARRAY Multigene Screening Combined with LDL-C and sdLDL-C Detection for more Favorable Outcomes in type 2 Diabetes Mellitus Therapy

Tian

¹

,

Wang

²

,

Liu

³

et al. 2020

Preprint

0

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Background: To determine the clinical value of multigene polymorphisms, LDL-C and sdLDL-C on T2DM therapy.Methods: In total, 352 T2DM patients before and after treatment and 48 healthy individuals were enrolled in this study. LDL-C and sdLDL-C were detected in 352 T2DM patients and 48 healthy individuals by Quantimetrix Lipoprint System. The 11 gene polymorphisms—HTR3B (rs2276307, A>G), APOE (rs7412, c.526C>T), APOE (rs429358, c.388T>C), CYP2C9*3 (rs1057910, c.1075A>C), KIF6 (rs20455, c.2155T>C), HMGCR (rs17238540, T>G), HMGCR (rs17244841, A>T), ABCB1 (rs2032582, c.2677G > T/A), HTR7 (rs1935349, C>T), SLCO1B1 (rs4149056, c.521T>C), and CETP (rs708272, G>A)—were screened in these 352 T2DM patients by the Agena Bioscience MassARRAY system before therapy.Results: Genetic polymorphisms associated with T2DM and statin effects in pretreatment patients were detected, then results showed that all 11 genes had heterozygous mutation, and 7 genes had homozygous mutation in 352 T2DM patients, more specifically reflected that these gene polymorphisms were common in Chinese T2DM patients. LDL-C and sdLDL-C were detected before and after treatment, sdLDL mainly existed in T2DM patients, and T2DM patients had higher mean levels of sdLDL-C than healthy people. After pharmacotherapy, the coincidence rates of decreases in LDL-C and sdLDL-C levels were 88.35% (311/352) and 84.09% (296/352), consistent with patients in remission.Conclusions: Gene polymorphisms related to pharmacotherapy were common in Chinese T2DM patients. And the expression of LDL-C and sdLDL-C was consistent with the T2DM disease course. Combined multigene screening before therapy and LDL-C and sdLDL-C detection before and after therapy could better assist T2DM treatment.

show abstract

“…Statins are currently effective in the treatment of T2DM and lowering blood lipids [15,16,29]. Polymorphisms of multiple genes that may be associated with therapeutic e cacy were detected by the Agena Bioscience MassARRAY system before patient treatment [25]. The research showed that CYP2C9*3 (1075A>C) is concerned with the uvastatin pharmacokinetics in Chinese individuals [19], HMGCR mutations cause total cholesterol and LDL-C levels to decrease [21], and the SLCO1B1 c.521T>C variant distinctly increases exposure to simvastatin acid [22].…”

Section: Discussionmentioning

confidence: 99%

“…Although there are many reports about the excellent predictive performance of sdLDL-C for cardiovascular disease and T2DM, we still need to more precisely con rm the therapeutic effect of LDL-C or sdLDL-C in T2DM, and perhaps LDL subfractions have more precise clinical applications in T2DM. To improve T2DM therapy, multigene detection was performed before treatment by an Agena Bioscience MassARRAY system, which is an advanced detection system based on MALDI-TOF MS technology and can detect dozens of gene loci in one sample [25]. The study owchart is shown in Fig.…”

mentioning

confidence: 99%

MassARRAY multigene screening combined with LDL-C and sdLDL-C detection for more favorable outcomes in type 2 diabetes mellitus therapy

Tian

¹

,

Wang

²

,

Liu

³

et al. 2020

Preprint

0

View full text Add to dashboard Cite

Background: To determine the clinical value of multigene polymorphisms, LDL-C and sdLDL-C on T2DM therapy.Methods: In total, 352 T2DM patients before and after treatment and 48 healthy individuals were enrolled in this study. LDL-C and sdLDL-C were detected in 352 T2DM patients and 48 healthy individuals by Quantimetrix Lipoprint System. The 11 gene polymorphisms—HTR3B (rs2276307, A>G), APOE (rs7412, c.526C>T), APOE (rs429358, c.388T>C), CYP2C9*3 (rs1057910, c.1075A>C), KIF6 (rs20455, c.2155T>C), HMGCR (rs17238540, T>G), HMGCR (rs17244841, A>T), ABCB1 (rs2032582, c.2677G > T/A), HTR7 (rs1935349, C>T), SLCO1B1 (rs4149056, c.521T>C), and CETP (rs708272, G>A)—were screened in these 352 T2DM patients by the Agena Bioscience MassARRAY system before therapy.Results: Genetic polymorphisms associated with T2DM and statin effects in pretreatment patients were detected, then results showed that all 11 genes had heterozygous mutation, and 7 genes had homozygous mutation in 352 T2DM patients, more specifically reflected that these gene polymorphisms were common in Chinese T2DM patients. LDL-C and sdLDL-C were detected before and after treatment, sdLDL mainly existed in T2DM patients, and T2DM patients had higher mean levels of sdLDL-C than healthy people. After pharmacotherapy, the coincidence rates of decreases in LDL-C and sdLDL-C levels were 88.35% (311/352) and 84.09% (296/352), consistent with patients in remission.Conclusions: Gene polymorphisms related to pharmacotherapy were common in Chinese T2DM patients. And the expression of LDL-C and sdLDL-C was consistent with the T2DM disease course. Combined multigene screening before therapy and LDL-C and sdLDL-C detection before and after therapy could better assist T2DM treatment.

show abstract

MassARRAY, pyrosequencing, and PNA clamping for EGFR mutation detection in lung cancer tissue and cytological samples: a multicenter study

Abstract: When used for the detection of EGFR mutations, MassARRAY was more sensitive than pyrosequencing or PNA clamping in tissue, but not in cytological samples. In EGFR mutation detection between tissues and cytology, PNAc showed relatively higher concordance than MassARRAY or pyrosequencing.

Cited by 14 publications

References 29 publications

Comparison between MassARRAY and pyrosequencing for CYP2C19 and ABCB1 gene variants of clopidogrel efficiency genotyping

Comparison between MassARRAY and pyrosequencing for CYP2C19 and ABCB1 gene variants of clopidogrel efficiency genotyping

MassARRAY Multigene Screening Combined with LDL-C and sdLDL-C Detection for more Favorable Outcomes in type 2 Diabetes Mellitus Therapy

MassARRAY multigene screening combined with LDL-C and sdLDL-C detection for more favorable outcomes in type 2 diabetes mellitus therapy

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