IDH Mutation Analysis in Glioma Patients by CADMA Compared with SNaPshot Assay and two Immunohistochemical Methods

Urbanovska, Irena; Megová, Magdalena Houdová; Dwight, Zachary; Kalita, Ondřej; Uvírová, Magdaléna; Šimová, Jarmila; Tučková, Lucie; Buzrla, Petr; Paleček, Tomáš; Hajdúch, Marián; Dvořáčková, Jana; Drábek, Jir̆ı́

doi:10.1007/s12253-018-0413-9

Cited by 7 publications

(4 citation statements)

References 34 publications

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“…The one case where IHC was not considered positive was found to be uninterpretable on evaluation because of heavy background staining within the areas of the tumor. Although IHC is fast and inexpensive with high sensitivity, the method can suffer from issues with interpretation owing to weak or nonspecific background staining or regional heterogeneity of IDH1-R132H protein expression throughout the tumor [ 39 , 44 ]. As mentioned previously, the algorithmic approach to the determination of IDH mutation status involves IHC for IDH1 R132H because this is the most frequent mutation in IDH-mutant gliomas and IHC is a reliable method that can quickly determine if this specific variant is present [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

Clinical Evaluation of IDH Mutation Status in Formalin-Fixed Paraffin-Embedded Tissue in Gliomas

et al. 2023

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Background and Objective Determination of isocitrate dehydrogenase (IDH) 1/2 mutational status is crucial for a glioma diagnosis. It is common for IDH mutational status to be determined via a two-step algorithm that utilizes immunohistochemistry studies for IDH1 R132H, the most frequent variant, followed by next-generation sequencing studies for immunohistochemistry-negative or immunohistochemistry-equivocal cases. The objective of this study was to evaluate adding a rapid real-time polymerase chain reaction (RT-PCR) assay to the testing algorithm. Methods We validated a modified, commercial, qualitative, RT-PCR assay with the ability to detect 14 variants in IDH1/2 in formalin-fixed paraffin-embedded glioma tumor specimens. The assay was validated using 51 tumor formalin-fixed paraffin-embedded specimens. During clinical implementation of this assay, 48 brain tumor specimens were assessed for IDH result concordance and turnaround time to result. Results Concordance between the RT-PCR and sequencing and IHC studies was 100%. This RT-PCR assay also showed concordant results with IHC for IDH1 R132H for 11 of the 12 (92%) tumor specimens with IDH mutations. The RT-PCR assay yielded faster results (average 2.6 days turnaround time) in comparison to sequencing studies (17.9 days), with complete concordance. Conclusions In summary, we report that this RT-PCR assay can reliably be performed on formalin-fixed paraffin-embedded specimens and has a faster turnaround time than sequencing assays and can be clinically implemented for determination of IDH mutation status for patients with glioma.

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Section: Discussionmentioning

confidence: 99%

Clinical Evaluation of IDH Mutation Status in Formalin-Fixed Paraffin-Embedded Tissue in Gliomas

et al. 2023

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“…Urbanovska et al, 2019 [36] also compared IDH1 mutation status by 2 molecular methods and 2 IHC methods. IHC by one method had a sensitivity of 85.7% and specificity of 100% and IHC by other method showed a sensitivity of 96.4% and specificity of 79.7%.…”

Section: Discussionmentioning

confidence: 99%

Significance and Impact of Changing WHO Classification Systems on Glial Tumors with Special Reference to IDH1 Mutation in Resource-Limited Setups

Singh,

Misra,

Varma

2023

Asian Pac J Cancer Biol

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Objectives: To reclassify glial neoplasms according to the 2021 WHO CNS tumor classification and to study the expression pattern of Isocitrate dehydrogenase 1 (IDH1) mutation by immunohistochemistry(IHC) and to categorize these tumors on the basis of IDH1 mutation. Methods: This retrospective study included patients who were diagnosed as glial tumors on histology (n=60). A detailed clinical history and radiological findings were obtained. Patients above 18 years were taken as adults while age upto 18 years were included in pediatric group. IHC for IDH1 mutation was done using Anti-IDH1 (R132H) antibody. Results: Among all glial tumors, 51.7% (31/60) were assigned IDH1 mutant status and the remaining i.e. 48.3% (29/60) were assigned IDH1 wildtype status. While classifying diffuse gliomas according to age, site and morphology, it was observed that the relative proportion of IDH1 mutant and IDH1 wildtype categories in the adult age group was 56.8% (25/44 cases) and 43.2% (19/44 cases) respectively while in the pediatric age group it was 45.5% (5/11 cases) and 54.5% (6/11 cases) respectively. Among the other glial and glioneuronal tumors majority were IDH1 wildtype (80.0%). Most of the WHO grade 1 tumors were IDH1 wildtype (71.4%, 5/7) whereas Grade 2 and 3 tumors were IDH1 mutant (83.3%, 15/18 and 100.0%, 5/5 respectively). On the other hand in Grade 4 tumors there was a higher proportion of neoplasms exhibiting IDH1 wildtype status (70.0%, 21/30). Conclusion: Identification of IDH status as mutant and wildtype is crucial in glial tumors (especially glioblastoma) because both these groups are clinically, genetically, biologically and prognostically different. IHC provides a standard alternative for molecular studies with high sensitivity and specificity with quick, economical and standard results especially useful in resource-poor countries. Reclassification according to the latest WHO classification appears to confer a overall better prognosis than the previous classifications and this study can also provide a base for future larger research avenues and treatment based on IDH1 mutation.

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“…Additionally, a Cox regression model was used to evaluate the effects of sex, IDH, MGMT, and treatment. The effect of TTP (treated as a categorical variable with threshold values of 6,8,9,10,12,14,16,18,20,22, and 24 months) on PSS was evaluated using the log-rank test, a univariate Cox regression model, and a Cox regression model stratified according to categorized KSs at the time of indication for repeat surgery, with adjustment for age. Since KS was the only statistically significant factor in the univariate PSS analysis, no multivariate model was formulated for PSS.…”

Section: Methodsmentioning

confidence: 99%

“…Isocitrate dehydrogenase (IDH) mutation and O6-methylguanine-DNA methyltransferase (MGMT) promoter methylation status were assessed using standard techniques employed at the three neuro-oncology centers described in detail in previous reports [19][20][21]. Briefly, immunohistochemistry (anti-IDH1R132H) and genotyping with Next-Generation Sequencing (Nextera XT kit, Illumina, San Diego, CA, USA) were employed for IDH mutation analyses and real-time methylation-specific PCRs or pyrosequencing analysis of MGMT promoter methylation.…”

Section: Investigation Of Idh Mutation and Mgmt Promotor Methylationmentioning

confidence: 99%

Effects of Reoperation Timing on Survival among Recurrent Glioblastoma Patients: A Retrospective Multicentric Descriptive Study

Kalita

Kazda

Reguli

et al. 2023

Cancers

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Glioblastoma inevitably recurs, but no standard regimen has been established for treating this recurrent disease. Several reports claim that reoperative surgery can improve survival, but the effects of reoperation timing on survival have rarely been investigated. We, therefore, evaluated the relationship between reoperation timing and survival in recurrent GBM. A consecutive cohort of unselected patients (real-world data) from three neuro-oncology cancer centers was analyzed (a total of 109 patients). All patients underwent initial maximal safe resection followed by treatment according to the Stupp protocol. Those meeting the following criteria during progression were indicated for reoperation and were further analyzed in this study: (1) The tumor volume increased by >20–30% or a tumor was rediscovered after radiological disappearance; (2) The patient’s clinical status was satisfactory (KS ≥ 70% and PS WHO ≤ gr. 2); (3) The tumor was localized without multifocality; (4) The minimum expected tumor volume reduction was above 80%. A univariate Cox regression analysis of postsurgical survival (PSS) revealed a statistically significant effect of reoperation on PSS from a threshold of 16 months after the first surgery. Cox regression models that stratified the Karnofsky score with age adjustment confirmed a statistically significant improvement in PSS for time-to-progression (TTP) thresholds of 22 and 24 months. The patient groups exhibiting the first recurrence at 22 and 24 months had better survival rates than those exhibiting earlier recurrences. For the 22-month group, the HR was 0.5 with a 95% CI of (0.27, 0.96) and a p-value of 0.036. For the 24-month group, the HR was 0.5 with a 95% CI of (0.25, 0.96) and a p-value of 0.039. Patients with the longest survival were also the best candidates for repeated surgery. Later recurrence of glioblastoma was associated with higher survival rates after reoperation.

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IDH Mutation Analysis in Glioma Patients by CADMA Compared with SNaPshot Assay and two Immunohistochemical Methods

Cited by 7 publications

References 34 publications

Clinical Evaluation of IDH Mutation Status in Formalin-Fixed Paraffin-Embedded Tissue in Gliomas

Clinical Evaluation of IDH Mutation Status in Formalin-Fixed Paraffin-Embedded Tissue in Gliomas

Significance and Impact of Changing WHO Classification Systems on Glial Tumors with Special Reference to IDH1 Mutation in Resource-Limited Setups

Effects of Reoperation Timing on Survival among Recurrent Glioblastoma Patients: A Retrospective Multicentric Descriptive Study

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