PMID- 34186176 OWN - NLM STAT- MEDLINE DCOM- 20220204 LR - 20220812 IS - 1943-7811 (Electronic) IS - 1525-1578 (Linking) VI - 23 IP - 9 DP - 2021 Sep TI - Next-Generation Sequencing Panel for 1p/19q Codeletion and IDH1-IDH2 Mutational Analysis Uncovers Mistaken Overdiagnoses of 1p/19q Codeletion by FISH. PG - 1185-1194 LID - S1525-1578(21)00174-4 [pii] LID - 10.1016/j.jmoldx.2021.06.004 [doi] AB - The 1p/19q codeletion is the result of a translocation between chromosome 1 (Chr1p) and chromosome 19 (Chr19q) with the loss of derivative (1;19)(p10;q10) chromosome. The 1p/19q codeletion has predictive and prognostic significance, and it is essential for the classification of gliomas. In routine practice, the fluorescence in situ hybridization (FISH) diagnosis of 1p/19q codeletion is sometimes unexpected. This study aimed to develop a next-generation sequencing panel for the concurrent definition of the 1p/19q codeletion and IDH1/IDH2 mutation status to resolve these equivocal cases. A total of 65 glioma samples were investigated using a 1p/19q-single-nucleotide polymorphism (SNP)-IDH panel. The panel consists of 192 amplicons, including SNPs mapping to Chr1 and Chr19 and amplicons for IDH1/IDH2 analysis. The 1p/19q SNP-IDH panel consistently identified IDH1/IDH2 mutations. In 49 of 60 cases (81.7%), it provided the same 1p/19q results obtained by FISH. In the remaining 11 cases, the 1p/19q SNP-IDH panel uncovered partial chromosome imbalances as a result of interstitial amplification or deletion of the regions where the FISH probes map, leading to a mistaken overdiagnosis of 1p/19q codeletion by FISH. The 1p/19q SNP-IDH next-generation sequencing panel allows reliable analysis of the 1p/19q codeletion and IDH1/IDH2 mutation at the same time. The panel not only allows resolution of difficult cases but also represents a cost-effective alternative to standard molecular diagnostics procedures. CI - Copyright (c) 2021 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved. FAU - de Biase, Dario AU - de Biase D AD - Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy; Molecular Pathology Laboratory, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy. FAU - Acquaviva, Giorgia AU - Acquaviva G AD - Molecular Pathology Laboratory, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; Department of Medicine (Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale), University of Bologna, Bologna, Italy. FAU - Visani, Michela AU - Visani M AD - Department of Medicine (Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale), University of Bologna, Bologna, Italy. FAU - Marucci, Gianluca AU - Marucci G AD - Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. FAU - De Leo, Antonio AU - De Leo A AD - Molecular Pathology Laboratory, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; Department of Medicine (Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale), University of Bologna, Bologna, Italy. FAU - Maloberti, Thais AU - Maloberti T AD - Department of Medicine (Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale), University of Bologna, Bologna, Italy. FAU - Sanza, Viviana AU - Sanza V AD - Molecular Pathology Laboratory, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; Department of Medicine (Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale), University of Bologna, Bologna, Italy. FAU - Di Oto, Enrico AU - Di Oto E AD - Department of Medicine (Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale), University of Bologna, Bologna, Italy. FAU - Franceschi, Enrico AU - Franceschi E AD - Department of Oncology, Azienda Unita Sanitaria Locale (AUSL) Bologna, Bologna, Italy. FAU - Mura, Antonella AU - Mura A AD - Department of Oncology, Azienda Unita Sanitaria Locale (AUSL) Bologna, Bologna, Italy. FAU - Ragazzi, Moira AU - Ragazzi M AD - Anatomic Pathology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Italy. FAU - Serra, Silvia AU - Serra S AD - Anatomic Pathology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Italy. FAU - Froio, Elisabetta AU - Froio E AD - Anatomic Pathology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Italy. FAU - Bisagni, Alessandra AU - Bisagni A AD - Anatomic Pathology Unit, Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Italy. FAU - Brandes, Alba A AU - Brandes AA AD - Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. FAU - Pession, Annalisa AU - Pession A AD - Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy; Molecular Pathology Laboratory, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy. FAU - Tallini, Giovanni AU - Tallini G AD - Molecular Pathology Laboratory, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; Department of Medicine (Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale), University of Bologna, Bologna, Italy. Electronic address: giovanni.tallini@unibo.it. LA - eng PT - Journal Article DEP - 20210626 PL - United States TA - J Mol Diagn JT - The Journal of molecular diagnostics : JMD JID - 100893612 RN - EC 1.1.1.41 (IDH2 protein, human) RN - EC 1.1.1.41 (Isocitrate Dehydrogenase) RN - EC 1.1.1.42. (IDH1 protein, human) SB - IM MH - Adolescent MH - Adult MH - Aged MH - Aged, 80 and over MH - Brain Neoplasms/*genetics/pathology MH - Chromosomes, Human, Pair 1/*genetics MH - Chromosomes, Human, Pair 19/*genetics MH - Cohort Studies MH - Cost-Benefit Analysis MH - DNA Mutational Analysis/economics/methods MH - Female MH - *Gene Deletion MH - Glioma/*genetics/pathology MH - High-Throughput Nucleotide Sequencing/economics/*methods MH - Humans MH - In Situ Hybridization, Fluorescence/economics/*methods MH - Isocitrate Dehydrogenase/*genetics MH - Male MH - Middle Aged MH - Molecular Diagnostic Techniques/economics/methods MH - *Overdiagnosis MH - Polymorphism, Single Nucleotide MH - Reproducibility of Results MH - Translocation, Genetic/*genetics MH - Young Adult EDAT- 2021/06/30 06:00 MHDA- 2022/02/05 06:00 CRDT- 2021/06/29 20:13 PHST- 2021/03/30 00:00 [received] PHST- 2021/05/15 00:00 [revised] PHST- 2021/06/08 00:00 [accepted] PHST- 2021/06/30 06:00 [pubmed] PHST- 2022/02/05 06:00 [medline] PHST- 2021/06/29 20:13 [entrez] AID - S1525-1578(21)00174-4 [pii] AID - 10.1016/j.jmoldx.2021.06.004 [doi] PST - ppublish SO - J Mol Diagn. 2021 Sep;23(9):1185-1194. doi: 10.1016/j.jmoldx.2021.06.004. Epub 2021 Jun 26.