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Correspondence
Sporadic granular cell tumours lack recurrent mutations in PTPN11, PTEN and other cancer-related genes
  1. Josiane Alves França1,
  2. Sílvia Ferreira de Sousa2,
  3. Rennan Garcias Moreira3,
  4. Vanessa Fátima Bernardes1,
  5. Letícia Martins Guimarães4,
  6. Jean Nunes Santos5,
  7. Marina Gonçalves Diniz4,
  8. Ricardo Santiago Gomez4,
  9. Carolina Cavalieri Gomes1
  1. 1Department of Pathology, Biological Sciences Institute, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil
  2. 2Department of Dentistry, Health and Biological Sciences Institute, Universidade Federal de Sergipe (UFS), Aracaju, Brazil
  3. 3Genomics Laboratory, Biological Sciences Institute, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil
  4. 4Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil
  5. 5Department of Oral Pathology, School of Dentistry, Universidade Federal da Bahia (UFBA), Salvador, Brazil
  1. Correspondence to Dr Carolina Cavalieri Gomes, Department of Pathology, Biological Sciences Institute, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG 31270 901, Brazil; carolinacgomes{at}ufmg.br

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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. …

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