Produção Nacional
Revisado por pares
Sporadic granular cell tumours lack recurrent mutations in PTPN11, PTEN and other cancer-related genes
2017; BMJ; Volume: 71; Issue: 1 Linguagem: Inglês
10.1136/jclinpath-2017-204849
ISSN1472-4146
AutoresJosiane Alves França, Sílvia Ferreira de Sousa, Rennan Garcias Moreira, Vanessa Fátima Bernardes, Letícia Martins Guimarães, Jean Nunes dos Santos, Marina Gonçalves Diniz, Ricardo Santiago Gomez, Carolina Cavaliéri Gomes,
Tópico(s)Cancer Diagnosis and Treatment
ResumoGranular 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. …
Referência(s)