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 -