Biomarker concordance between molecular stereotactic biopsy and open surgical specimens in gliomas

Furtak, Jacek; Mielczarek, Maciej; Szylberg, Mateusz; Harat, Maciej

doi:10.5603/pjnns.a2019.0056

Cited by 3 publications

(3 citation statements)

References 51 publications

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“…When microsurgical excision is not feasible, stereotactic biopsy should be performed due to its safeness, effectiveness, and high concordance with open surgical specimens in acquiring diagnostic material. In the era of the WHO CNS5 2021 classification, collecting representative samples for histological and molecular investigations is essential [ 19 , 20 ]. Next, the IDH gene status assessment seems to be a crucial step in the management of a patient with astrocytoma.…”

Section: Discussionmentioning

confidence: 99%

Glioma 2021 WHO Classification: The Superiority of NGS Over IHC in Routine Diagnostics

Śledzińska

Bebyn

Szczerba³

et al. 2022

Mol Diagn Ther

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Introduction The accurate detection of genetic variants such as single substitutions ( IDH1/2 , TERT ), chromosomal abnormalities ( CDKN2A , 1p/19q deletions, and EGFR amplifications), or promoter methylations ( MGMT ) is critical for glioma patient management, as emphasized in the World Health Organization's (WHO’s) most recent classification in 2021 (WHO CNS5). The purpose of this study was to evaluate novel innovative methods for determining IDH1/2 status in the context of WHO CNS5. Methods Multiple biomarkers were simultaneously screened using next-generation sequencing (NGS) on 34 glioma samples. In cases where the IDH1/2 status determined by immunohistochemistry (IHC) or multiplex ligation-dependent probe amplification (MLPA) was inconsistent with the NGS results, quantitative polymerase chain reaction (qPCR) and Sanger sequencing were performed to resolve the adjudicated discrepancy. Results IDH1/2 NGS results differ from IHC (7/13 samples) as well as MLPA reports (1/4 samples). All NGS findings were confirmed by qPCR and Sanger sequencing. WHO CNS5 requires assessment of multiple mutations for glioma classification. Conclusions We demonstrated that qPCR or NGS performed in reference genetic laboratories, rather than IHC, is the most reliable method for IDH1/2 analysis. Clinicians should be aware of discrepancies in MLPA or IHC results and seek reconsultation in facilities with extensive access to advanced molecular technologies. Moreover, we proposed a new algorithm for the molecular diagnostic procedures in glioma patients based on the WHO CNS5. Graphical abstract Supplementary Information The online version contains supplementary material available at 10.1007/s40291-022-00612-3.

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Section: Discussionmentioning

confidence: 99%

Glioma 2021 WHO Classification: The Superiority of NGS Over IHC in Routine Diagnostics

Śledzińska

Bebyn

Szczerba³

et al. 2022

Mol Diagn Ther

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“…Stereotactic biopsies for intrinsic brainstem lesions were as safe and effective as biopsy of lesions in the supratentorial compartment [ 12 ]. Moreover, we previously reported that the initial histological findings obtained by stereotactic biopsy were the same as for open surgery [ 26 ]. Ramakonar et al argued that even if the biopsy material was non-diagnostic in histological evaluations, molecular testing should be performed, since mutations in IDH1 and TERT may still be detected [ 27 ].…”

Section: Discussionmentioning

confidence: 99%

Infratentorial Stereotactic Biopsy of Brainstem and Cerebellar Lesions

Furtak¹,

Śledzińska

Bebyn

et al. 2021

Brain Sciences

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Stereotactic biopsy of posterior fossa lesions is often regarded as hazardous due to the critical structures in that area. Therefore, the aim of the study was to evaluate the diagnostic accuracy and safety of infratentorial stereotactic biopsy of brainstem or cerebellar lesions and its associations with other clinical, laboratory, and radiological parameters. From January 2000 to May 2021, 190 infratentorial stereotactic biopsies of posterior fossa tumors, including 108 biopsies of brainstem lesions, were performed. Moreover, 63 supratentorial biopsies of cerebral peduncle lesions were analyzed to compare the safety and efficacy of both approaches. Additionally, the presence of antibodies against Toxoplasma gondii and Epstein–Barr Virus (EBV) were documented in 67 and 66 patients, respectively, and magnetic resonance imaging (MRI) scans were evaluated in 114 patients. Only 4% of patients had minor complications and 1.5% had major complications, including one patient who died from intracranial bleeding. Nine (4.7%) biopsies were non-diagnostic. Isocitrate dehydrogenase 1 (IDH1) mutation, 1p/19q codeletion, and O6-methylguanine-DNA methyltransferase (MGMT) promoter methylation status were assessed in 29 patients, and were non-diagnostic in only 3 (10.3%) cases. Patients with high-grade gliomas (HGG) were more frequently seropositive for T. gondii than individuals with low-grade gliomas (LGG; p < 0.001). A total of 27% of HGG and 41% of LGG were non-enhancing on MRI. The infratentorial approach is generally safe and reliable for biopsy of brainstem and cerebellar lesions. In our study, the safety and efficacy of supratentorial biopsy of the cerebral peduncle and infratentorial biopsy of lesions below the cerebral peduncle were comparably high. Moreover, patients with HGG were more frequently seropositive for T. gondii than patients with LGG, and the relationship between toxoplasmosis and gliomagenesis requires further investigation.

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“…[2,12,16,21,22,23,27,34,52,51,53] is result may be related to the relatively great number of samples (n = 12) collected during the procedure, contrarily to others who usually harvest four samples or less. [3,4,7,[10][11][12][13]18,[20][21][22][23][24]27] On the other hand, the collection of a greater number of samples may theoretically increase the chance of bleeding complications. However, intralesional hemorrhage occurred in a single occasion in this series (3.4%), which fortunately was asymptomatic and did not produce any mass effect (diameter = 10 mm).…”

Section: Discussionmentioning

confidence: 99%

Indicators of correct targeting in stereotactic biopsy of intracranial lesions

Vilela‐Filho¹,

Porfírio²,

Goulart³

2022

Surgical Neurology International

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Background: Confirmation of whether a stereotactic biopsy was performed in the correct site is usually dependent on the frozen section or on novel tumor-specific markers that are not widely available. Immediate postoperative computed tomography (CT) or magnetic resonance (MR) is routinely performed in our service after biopsy. In this retrospective study, we have carefully analyzed these images in an attempt to determine the presence of markers that indicate appropriate targeting. Methods: Medical records and neuroimages of patients who underwent stereotactic biopsy of intracranial lesions were reviewed. The following variables were assessed: age, sex, anatomopathology, lesion site, complications, diagnostic accuracy, and the presence of image markers. Results: Twenty-nine patients were included in this case series. About 96.6% of the biopsies were accurate according to the permanent section. Of the 86.2% of patients with intralesional pneumocephalus on the postoperative images, 51.7% additionally presented petechial hemorrhage. In 13.8% of the cases, no image markers were identified. Conclusion: This is the first report of intralesional pneumocephalus and petechial hemorrhage as indicators of appropriate targeting in stereotactic biopsy. In the majority of the cases, an immediate postoperative head CT, which is widely available, can estimate how adequate the targeting is. To use intralesional pneumocephalus/ petechial hemorrhages as not only postoperative but also as intraoperative markers of appropriate targeting, it is advised that the surgical wound should be temporarily closed and dressed after the biopsy so that the patient can undergo a CT/MR scan and be checked for the presence of theses markers before removing the stereotactic frame.

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Biomarker concordance between molecular stereotactic biopsy and open surgical specimens in gliomas

Cited by 3 publications

References 51 publications

Glioma 2021 WHO Classification: The Superiority of NGS Over IHC in Routine Diagnostics

Glioma 2021 WHO Classification: The Superiority of NGS Over IHC in Routine Diagnostics

Infratentorial Stereotactic Biopsy of Brainstem and Cerebellar Lesions

Indicators of correct targeting in stereotactic biopsy of intracranial lesions

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