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Granular cell tumour (GCT) is a benign nerve sheath neoplasm of unknown molecular pathogenesis. Although a skeletal muscle cell origin was initially proposed for GCT, its neural origin, derived from Schwann cells, is supported by S-100 immunopositivity.1 There are few molecular studies on oral GCT.2 GCTs have been previously described in patients with LEOPARD and Noonan syndrome with PTPN11 gene mutations,3–6 as well as in a patient with PTEN hamartoma tumour syndrome with PTEN mutation.7 Therefore, we hypothesised that mutations in these genes could be drivers of sporadic GCT pathogenesis.
A convenience sample of six formalin-fixed, paraffin-embedded (FFPE) sporadic oral GCT was selected from the archives of the author’s institution. All samples were located at the tongue and occurred in female subjects ranging from 18 to 42 years old (median age 34 years old). The H&E stained slides were analysed by two pathologists (CCG and RSG) to confirm the diagnosis (figure 1A). Tumour-enriched areas were ensured by microdissection and DNA was isolated using QIAamp DNA FFPE Tissue Kit (Qiagen, USA) and quantified by Qubit 3.0 Fluorometer (Life Technologies, USA) before next-generation sequencing (NGS) library preparation. …
Handling editor Runjan Chetty.
Contributors All authors have made significant contribution to the manuscript, and have seen and approved the final manuscript. Study concept: SFS, MGD, RSG, CCG, JAF. Data acquisition: JNS, LMG, RGM. Data analysis and interpretation: VFB, JAF, MGD, RSG, CCG. Manuscript preparation: JAF, SFS, MGD, RSG, CCG. Manuscript review: JAF, SFS, RGM, VFB, LMG, JNS, MGD, RSG, CCG.
Funding This study was funded by Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)/Brazil, Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)/Brazil, and Fundação de Amparo a Pesquisa do Estado de Minas Gerais (FAPEMIG)/Brazil.
Competing interests None declared.
Patient consent Obtained.
Ethics approval Universidade Federal de Minas Gerais Ethics Committee.
Provenance and peer review Not commissioned; internally peer reviewed.