Clinical Evaluation of IDH Mutation Status in Formalin-Fixed Paraffin-Embedded Tissue in Gliomas.
Mol Diagn Ther
; 27(3): 371-381, 2023 05.
Article
em En
| MEDLINE
| ID: mdl-36690887
ABSTRACT
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.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Neoplasias Encefálicas
/
Glioma
Tipo de estudo:
Qualitative_research
Limite:
Humans
Idioma:
En
Revista:
Mol Diagn Ther
Assunto da revista:
BIOLOGIA MOLECULAR
/
FARMACOLOGIA
/
TECNICAS E PROCEDIMENTOS DE LABORATORIO
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Estados Unidos