Abstract

Granular cell tumours (GCTs) are rare submucosal lesions, thought to develop from Schwann cells, characterised by large polygonal cells with abundant lysosomes. The objectives of this study are to investigate whether GCTs have an antigen-presenting cell (APC) phenotype or a neural crest phenotype using immunohistochemistry and to compare expression profiles with Schwannomas. Immunoreactivity to CD68, HLA-DR, CD163, CD40 and CD11c (APC phenotype) and markers of neural crest cell (NCC) origin S100, SOX10, NSE and GAP43 in 23 cases of GCTs and 10 cases of Schwannomas were evaluated. RT-qPCR was used to identify a possible NCC developmental phenotype in 6 cases of GCTs. GAP43 was identified as a new NCC marker for GCTs, and some evidence was found for an APC phenotype from CD68 and HLA-DR immunoreactivity. RT-qPCR failed to identify an NCC developmental phenotype of GCTs, likely due to technical issues.

Highlights

  • Investigation of the Molecular ProfileGranular cell tumours (GCT) are relatively rare soft tissue lesions of which the aetiology has been a focus of interest for many years

  • The mean age for patients diagnosed with a biopsy-proven GCT was 41.4 ± 13.1

  • The current understanding is that GCTs represent a tumour originating from Schwann cell lineage or differentiating into a Schwann cell phenotype [1], a number of different tissues have been considered as an origin, including myoblasts [1], fibroblasts [13], histiocytes [14] and endomesenchymal cells [9]

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Summary

Introduction

Granular cell tumours (GCT) are relatively rare soft tissue lesions of which the aetiology has been a focus of interest for many years. They are thought to be derived from cells originating from the neural crest, Schwann cells, based primarily on similarities between the immunohistochemical biomarker staining profile of GCT and schwannomas. According to Allon et al, GCTs form 9.6% of benign tumours of the oral mucosa [2]. They present, most commonly, in the fourth to sixth decades, with a predilection for females over males of 2:1 [3].

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