Next-Generation Sequencing Panel for 1p/19q Codeletion and IDH1-IDH2 Mutational Analysis Uncovers Mistaken Overdiagnoses of 1p/19q Codeletion by FISH

Dario de Biase, Giorgia Acquaviva, Michela Visani, Gianluca Marucci, Antonio De Leo, Thais Maloberti, Viviana Sanza, Enrico Di Oto, Enrico Franceschi, Antonella Mura, Moira Ragazzi, Silvia Serra, Elisabetta Froio, Alessandra Bisagni, Alba A. Brandes, Annalisa Pession, Giovanni Tallini

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)1185-1194
Number of pages10
JournalJournal of Molecular Diagnostics
Volume23
Issue number9
DOIs
Publication statusPublished - Sep 2021

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine

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