TY - JOUR
T1 - Interlaboratory comparison of IDH mutation detection
AU - Van Den Bent, Martin J.
AU - Hartmann, C.
AU - Preusser, Matthias
AU - Ströbel, Thomas
AU - Dubbink, Hendrikus J.
AU - Kros, Johan M.
AU - Von Deimling, Andreas
AU - Boisselier, Blandine
AU - Sanson, Marc
AU - Halling, Kevin C.
AU - Diefes, Kristin L.
AU - Aldape, Kenneth
AU - Giannini, Caterina
N1 - Funding Information:
Acknowledgments The technical assistence of Marcel M. van der Weiden, Edward Post (ErasmusMC), Brooke E Mc Cann, Jesse S Voss (Mayo Clinics), Dr. Johannes A. Hainfellner (Institute of Neurology, Medical University of Vienna) is gratefully acknowledged. Dr Caterina Giannini was in part supported by Grant Number P50CA108961 from the National Cancer Institute. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Cancer Institute or the National Institutes of Health.
PY - 2013/4
Y1 - 2013/4
N2 - Isocitrate dehydrogenase (IDH) mutational testing is becoming increasingly important. For this, robust and reliable assays are needed. We tested the variation of results between six laboratories of testing for IDH mutations. Each laboratory received five unstained slides from 31 formalin-fixed paraffin-embedded (FFPE) glioma samples, and followed its own standard IDH diagnostic routine. All laboratories used immunohistochemistry (IHC) with an antibody against the most frequent IDH1 mutation (R132H) as a first step. Three laboratories then sequenced only IHC negative cases while the others sequenced all cases. Based on the overall analysis, 13 samples from 11 tumors had an R132H mutation and one tumor showed an R132G mutation. Results of IHC for IDH1 R132H mutations in all six laboratories were completely in agreement, and identified all R132H mutations. Upon sequencing the results of two laboratories deviated from those of the others. After a review of the entire diagnostic process, on repeat (blinded) testing one laboratory was completely in agreement with the overall result. A change in technique did only partially improve the results in the other laboratory. IHC for the IDH1 R132H mutation is very reliable and consistent across laboratories. IDH sequencing procedures yielded inconsistent results in 2 out of 6 laboratories. Quality assurance is pivotal before IDH testing is made part of clinical management of patients.
AB - Isocitrate dehydrogenase (IDH) mutational testing is becoming increasingly important. For this, robust and reliable assays are needed. We tested the variation of results between six laboratories of testing for IDH mutations. Each laboratory received five unstained slides from 31 formalin-fixed paraffin-embedded (FFPE) glioma samples, and followed its own standard IDH diagnostic routine. All laboratories used immunohistochemistry (IHC) with an antibody against the most frequent IDH1 mutation (R132H) as a first step. Three laboratories then sequenced only IHC negative cases while the others sequenced all cases. Based on the overall analysis, 13 samples from 11 tumors had an R132H mutation and one tumor showed an R132G mutation. Results of IHC for IDH1 R132H mutations in all six laboratories were completely in agreement, and identified all R132H mutations. Upon sequencing the results of two laboratories deviated from those of the others. After a review of the entire diagnostic process, on repeat (blinded) testing one laboratory was completely in agreement with the overall result. A change in technique did only partially improve the results in the other laboratory. IHC for the IDH1 R132H mutation is very reliable and consistent across laboratories. IDH sequencing procedures yielded inconsistent results in 2 out of 6 laboratories. Quality assurance is pivotal before IDH testing is made part of clinical management of patients.
KW - IDH1
KW - Immunohistochemistry
KW - Interlaboratory comparison
KW - Sequencing
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U2 - 10.1007/s11060-013-1056-z
DO - 10.1007/s11060-013-1056-z
M3 - Review article
C2 - 23358936
AN - SCOPUS:84877825900
SN - 0167-594X
VL - 112
SP - 173
EP - 178
JO - Journal of neuro-oncology
JF - Journal of neuro-oncology
IS - 2
ER -