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Review
. 2024 Feb;166(3):485-492.
doi: 10.1007/s11060-024-04568-8. Epub 2024 Jan 29.

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  1   2 , Marike L D Broekman  3   4 , Edwin Cuppen  5   6 , Hendrikus J Dubbink  7 , Arja Ter Elst  8 , Ronald van Eijk  9 , Angelika Mühlebner  10 , Casper Jansen  11 , Robert van der Geize  11 , Ernst-Jan M Speel  12 , Patricia J T A Groenen  13 , Filip Y F de Vos  14 , Pieter Wesseling  15   16 , Wendy W J de Leng  10 , Sybren L N Maas  7   9
Affiliations
Review

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 et al. J Neurooncol. 2024 Feb.

Abstract

Purpose: Next 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.

Methods: This 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.

Results: Out 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%).

Conclusion: Current 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: Adult; High-grade glioma; Next generation sequencing; Practice; Variations.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Heatmap overview of next generation sequencing (NGS) gene panels in different centers. Seven centers provided detailed panel information. For the center with the broad 500 gene panel by default, only those genes present in at least one of the other panels are depicted. Essentiality is based on the fifth edition of the World Health Organization classification of tumors of the central nervous system (WHO CNS5) [2, 18]
Fig. 2
Fig. 2
Heatmap overview of next generation sequencing (NGS) platforms in different centers regarding genes listed as essential for adult-type diffuse glioma diagnosis [2, 18]. WHO CNS5: fifth edition of the World Health Organization classification of tumors of the central nervous system
See this image and copyright information in PMC

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