Investigation of the Molecular Profile of Granular Cell Tumours and Schwannomas of the Oral Cavity

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.

Intracranial Granular Cell Tumours in Three Dogs: Atypical Magnetic Resonance Imaging Features and Immunohistochemical Study

“…The histogenesis of these tumours remains uncertain, although there are several hypotheses suggesting meningeal cells, histiocytes, astrocytes or neurons as potential origins in human and veterinary medicine [ 2 ]. Recently, a neural crest origin specifically from Schwann cells was postulated as the potential origin of intracranial GCTs in human medicine [ 34 ], exhibiting positive immunoreactivity to SOX-10 staining. To the authors’ knowledge (Pumarola, M.) SOX-10 is a specific immunomarker for Schwann cells and their tumours.…”

“…In human medicine, Schwann cell tumours and intracranial GCTs of Schwann cell origin displayed nuclear labelling. In our three cases, granular cells showed a marked reaction to PAS staining and ubiquitin immunostaining [ 35 ], but SOX-10 immunoreactivity was not detected, and S-100 exhibited mild variable positivity [ 34 , 36 ]. According to these results, a neural crest and Schwann cell origin could not be confirmed.…”

Antiangiogenics in Malignant Granular Cell Tumors: Review of the Literature

“…Another possibility is that the presence of HLA-DR immunoreactivity might suggest an epithelial-mesenchymal transformation, more indicative of tissue dedifferentiation than an involvement in tumor antigen presentation [36].…”