Gene expression patterns in adenoid cystic carcinoma with and without diffuse NOTCH1 intracellular domain (NICD1) immunohistochemistry staining

Karan Patel, Massimiliano Manzo, Brindley Hapuarachi, Samuel Rack, Philip Jermann, Laura Feeney, Emily Heathcote, Guy Betts, Jon C Aster, Maximilien Murone, Maria Bobadilla, Rajwinder Lehal, Florian D Vogl, Kevin Harrington, Robert Metcalf

Research output: Contribution to journalArticlepeer-review

Abstract

Introduction: Adenoid cystic carcinoma (ACC) is a rare salivary gland cancer with diverse tumour growth kinetics. Studies have applied proteo-genomic approaches to identify poorer prognostic subgroups [1], [2], [3], [4], [5]. Most recently, Ferrarotto et al. described two groups: ACC-I characterised by NOTCH1 activating mutations, MYC and NOTCH1 intracellular domain (NICD1) protein expression and reduced survival; and ACC-II differentiated by TP63 and EGFR protein overexpression and better outcomes [5].
In our previous study of 120 ACC patients, we demonstrated adverse clinical outcomes with NOTCH1 activating mutations and/or NICD1 diffuse immunohistochemical (IHC) staining [6]. We have now used comprehensive transcriptome analysis to determine the differential gene expression patterns in tumour samples with and without NICD1 diffuse staining from a cohort of the above patients. To examine whether these patterns allow for stratification in an independent dataset, we used the differentially expressed gene-sets identified from these tumours to analyse the ACC transcriptomic dataset reported by Ferrarotto et al. [5].
Original languageEnglish
JournalOral Oncology
Volume146
Early online date22 Aug 2023
DOIs
Publication statusPublished - Nov 2023
Externally publishedYes

Keywords

  • Humans
  • Carcinoma, Adenoid Cystic/pathology
  • Gene Expression
  • Immunohistochemistry
  • Receptor, Notch1/genetics
  • Staining and Labeling

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