Next generation sequencing of high-grade adult-type diffuse glioma in the Netherlands: interlaboratory variation in the primary diagnostic and recurrent setting

Mark P. van Opijnen; Marike L. D. Broekman; Edwin Cuppen; Hendrikus J. Dubbink; Arja ter Elst; Ronald van Eijk; Angelika Muhlebner; Casper Jansen; Robert van der Geize; Ernst-Jan M. Speel; Patricia J. T. A. Groenen; Filip Y. F. de Vos; Pieter Wesseling; Wendy W. J. de Leng; Sybren L. N. Maas

doi:10.1007/s11060-024-04568-8

Next generation sequencing of high-grade adult-type diffuse glioma in the Netherlands: interlaboratory variation in the primary diagnostic and recurrent setting

Mark P. van Opijnen^*, Marike L. D. Broekman, Edwin Cuppen, Hendrikus J. Dubbink, Arja ter Elst, Ronald van Eijk, Angelika Muhlebner, Casper Jansen, Robert van der Geize, Ernst-Jan M. Speel, Patricia J. T. A. Groenen, Filip Y. F. de Vos, Pieter Wesseling, Wendy W. J. de Leng, Sybren L. N. Maas

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

PurposeNext generation sequencing (NGS) is an important tool used in clinical practice to obtain the required molecular information for accurate diagnostics of high-grade adult-type diffuse glioma (HGG). Since individual centers use either in-house produced or standardized panels, interlaboratory variation could play a role in the practice of HGG diagnosis and treatment. This study aimed to investigate the current practice in NGS application for both primary and recurrent HGG.MethodsThis nationwide Dutch survey used the expertise of (neuro)pathologists and clinical scientists in molecular pathology (CSMPs) by sending online questionnaires on clinical and technical aspects. Primary outcome was an overview of panel composition in the different centers for diagnostic practice of HGG. Secondary outcomes included practice for recurrent HGG and future perspectives.ResultsOut of twelve neuro-oncology centers, the survey was filled out by eleven (neuro)pathologists and seven CSMPs. The composition of the diagnostic NGS panels differed in each center with numbers of genes ranging from 12 to 523. Differences are more pronounced when tests are performed to find therapeutic targets in the case of recurrent disease: about half of the centers test for gene fusions (60%) and tumor mutational burden (40%).ConclusionCurrent notable interlaboratory variations as illustrated in this study should be reduced in order to refine diagnostics and improve precision oncology. In-house developed tests, standardized panels and routine application of broad gene panels all have their own advantages and disadvantages. Future research would be of interest to study the clinical impact of variation in diagnostic approaches.

Original language	English
Pages (from-to)	485-492
Number of pages	8
Journal	Journal of Neuro-Oncology
Volume	166
Issue number	3
Early online date	1 Jan 2024
DOIs	https://doi.org/10.1007/s11060-024-04568-8
Publication status	Published - Feb 2024

Keywords

Next generation sequencing
High-grade glioma
Adult
Variations
Practice
EANO GUIDELINE
TUMORS

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Cite this

van Opijnen, M. P., Broekman, M. L. D., Cuppen, E., Dubbink, H. J., ter Elst, A., van Eijk, R., Muhlebner, A., Jansen, C., van der Geize, R., Speel, E.-J. M., Groenen, P. J. T. A., de Vos, F. Y. F., Wesseling, P., de Leng, W. W. J., & Maas, S. L. N. (2024). Next generation sequencing of high-grade adult-type diffuse glioma in the Netherlands: interlaboratory variation in the primary diagnostic and recurrent setting. Journal of Neuro-Oncology, 166(3), 485-492. https://doi.org/10.1007/s11060-024-04568-8

@article{9323e5c9d05048ac9eb6b342f2f851a0,

title = "Next generation sequencing of high-grade adult-type diffuse glioma in the Netherlands: interlaboratory variation in the primary diagnostic and recurrent setting",

abstract = "PurposeNext generation sequencing (NGS) is an important tool used in clinical practice to obtain the required molecular information for accurate diagnostics of high-grade adult-type diffuse glioma (HGG). Since individual centers use either in-house produced or standardized panels, interlaboratory variation could play a role in the practice of HGG diagnosis and treatment. This study aimed to investigate the current practice in NGS application for both primary and recurrent HGG.MethodsThis nationwide Dutch survey used the expertise of (neuro)pathologists and clinical scientists in molecular pathology (CSMPs) by sending online questionnaires on clinical and technical aspects. Primary outcome was an overview of panel composition in the different centers for diagnostic practice of HGG. Secondary outcomes included practice for recurrent HGG and future perspectives.ResultsOut of twelve neuro-oncology centers, the survey was filled out by eleven (neuro)pathologists and seven CSMPs. The composition of the diagnostic NGS panels differed in each center with numbers of genes ranging from 12 to 523. Differences are more pronounced when tests are performed to find therapeutic targets in the case of recurrent disease: about half of the centers test for gene fusions (60%) and tumor mutational burden (40%).ConclusionCurrent notable interlaboratory variations as illustrated in this study should be reduced in order to refine diagnostics and improve precision oncology. In-house developed tests, standardized panels and routine application of broad gene panels all have their own advantages and disadvantages. Future research would be of interest to study the clinical impact of variation in diagnostic approaches.",

keywords = "Next generation sequencing, High-grade glioma, Adult, Variations, Practice, EANO GUIDELINE, TUMORS",

author = "{van Opijnen}, {Mark P.} and Broekman, {Marike L. D.} and Edwin Cuppen and Dubbink, {Hendrikus J.} and {ter Elst}, Arja and {van Eijk}, Ronald and Angelika Muhlebner and Casper Jansen and {van der Geize}, Robert and Speel, {Ernst-Jan M.} and Groenen, {Patricia J. T. A.} and {de Vos}, {Filip Y. F.} and Pieter Wesseling and {de Leng}, {Wendy W. J.} and Maas, {Sybren L. N.}",

year = "2024",

month = feb,

doi = "10.1007/s11060-024-04568-8",

language = "English",

volume = "166",

pages = "485--492",

journal = "Journal of Neuro-Oncology",

issn = "0167-594X",

publisher = "Springer, Cham",

number = "3",

}

van Opijnen, MP, Broekman, MLD, Cuppen, E, Dubbink, HJ, ter Elst, A, van Eijk, R, Muhlebner, A, Jansen, C, van der Geize, R, Speel, E-JM, Groenen, PJTA, de Vos, FYF, Wesseling, P, de Leng, WWJ & Maas, SLN 2024, 'Next generation sequencing of high-grade adult-type diffuse glioma in the Netherlands: interlaboratory variation in the primary diagnostic and recurrent setting', Journal of Neuro-Oncology, vol. 166, no. 3, pp. 485-492. https://doi.org/10.1007/s11060-024-04568-8

Next generation sequencing of high-grade adult-type diffuse glioma in the Netherlands: interlaboratory variation in the primary diagnostic and recurrent setting. / van Opijnen, Mark P.; Broekman, Marike L. D.; Cuppen, Edwin et al.
In: Journal of Neuro-Oncology, Vol. 166, No. 3, 02.2024, p. 485-492.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Next generation sequencing of high-grade adult-type diffuse glioma in the Netherlands

T2 - interlaboratory variation in the primary diagnostic and recurrent setting

AU - van Opijnen, Mark P.

AU - Broekman, Marike L. D.

AU - Cuppen, Edwin

AU - Dubbink, Hendrikus J.

AU - ter Elst, Arja

AU - van Eijk, Ronald

AU - Muhlebner, Angelika

AU - Jansen, Casper

AU - van der Geize, Robert

AU - Speel, Ernst-Jan M.

AU - Groenen, Patricia J. T. A.

AU - de Vos, Filip Y. F.

AU - Wesseling, Pieter

AU - de Leng, Wendy W. J.

AU - Maas, Sybren L. N.

PY - 2024/2

Y1 - 2024/2

N2 - PurposeNext generation sequencing (NGS) is an important tool used in clinical practice to obtain the required molecular information for accurate diagnostics of high-grade adult-type diffuse glioma (HGG). Since individual centers use either in-house produced or standardized panels, interlaboratory variation could play a role in the practice of HGG diagnosis and treatment. This study aimed to investigate the current practice in NGS application for both primary and recurrent HGG.MethodsThis nationwide Dutch survey used the expertise of (neuro)pathologists and clinical scientists in molecular pathology (CSMPs) by sending online questionnaires on clinical and technical aspects. Primary outcome was an overview of panel composition in the different centers for diagnostic practice of HGG. Secondary outcomes included practice for recurrent HGG and future perspectives.ResultsOut of twelve neuro-oncology centers, the survey was filled out by eleven (neuro)pathologists and seven CSMPs. The composition of the diagnostic NGS panels differed in each center with numbers of genes ranging from 12 to 523. Differences are more pronounced when tests are performed to find therapeutic targets in the case of recurrent disease: about half of the centers test for gene fusions (60%) and tumor mutational burden (40%).ConclusionCurrent notable interlaboratory variations as illustrated in this study should be reduced in order to refine diagnostics and improve precision oncology. In-house developed tests, standardized panels and routine application of broad gene panels all have their own advantages and disadvantages. Future research would be of interest to study the clinical impact of variation in diagnostic approaches.

AB - PurposeNext generation sequencing (NGS) is an important tool used in clinical practice to obtain the required molecular information for accurate diagnostics of high-grade adult-type diffuse glioma (HGG). Since individual centers use either in-house produced or standardized panels, interlaboratory variation could play a role in the practice of HGG diagnosis and treatment. This study aimed to investigate the current practice in NGS application for both primary and recurrent HGG.MethodsThis nationwide Dutch survey used the expertise of (neuro)pathologists and clinical scientists in molecular pathology (CSMPs) by sending online questionnaires on clinical and technical aspects. Primary outcome was an overview of panel composition in the different centers for diagnostic practice of HGG. Secondary outcomes included practice for recurrent HGG and future perspectives.ResultsOut of twelve neuro-oncology centers, the survey was filled out by eleven (neuro)pathologists and seven CSMPs. The composition of the diagnostic NGS panels differed in each center with numbers of genes ranging from 12 to 523. Differences are more pronounced when tests are performed to find therapeutic targets in the case of recurrent disease: about half of the centers test for gene fusions (60%) and tumor mutational burden (40%).ConclusionCurrent notable interlaboratory variations as illustrated in this study should be reduced in order to refine diagnostics and improve precision oncology. In-house developed tests, standardized panels and routine application of broad gene panels all have their own advantages and disadvantages. Future research would be of interest to study the clinical impact of variation in diagnostic approaches.

KW - Next generation sequencing

KW - High-grade glioma

KW - Adult

KW - Variations

KW - Practice

KW - EANO GUIDELINE

KW - TUMORS

U2 - 10.1007/s11060-024-04568-8

DO - 10.1007/s11060-024-04568-8

M3 - Article

SN - 0167-594X

VL - 166

SP - 485

EP - 492

JO - Journal of Neuro-Oncology

JF - Journal of Neuro-Oncology

IS - 3

ER -