Salivary Gland Cancer in the Era of Routine Next-Generation Sequencing.
Biomarkers, Tumor
/ analysis
Carcinoma, Mucoepidermoid
/ diagnosis
Female
High-Throughput Nucleotide Sequencing
/ methods
Humans
In Situ Hybridization, Fluorescence
/ methods
Middle Aged
Oncogene Proteins, Fusion
/ analysis
Parotid Neoplasms
/ diagnosis
Sequence Analysis, DNA
Trans-Activators
/ genetics
Transcription Factors
/ genetics
Fluorescence
Fusions
In-situ hybridization
Next-generation sequencing
Salivary gland neoplasms
Journal
Head and neck pathology
ISSN: 1936-0568
Titre abrégé: Head Neck Pathol
Pays: United States
ID NLM: 101304010
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
received:
02
12
2019
accepted:
31
01
2020
pubmed:
4
3
2020
medline:
5
2
2021
entrez:
4
3
2020
Statut:
ppublish
Résumé
Next-Generation Sequencing (NGS) is being utilized with increasing frequency in the characterization of salivary gland tumours. The potential scenarios which may be encountered by using this technique in routine practice will be outlined in further text by drawing from our own clinical experience. These include oncocytic mucoepidermoid carcinomas with unusual variant morphology (and negative MAML2 fluorescent in-situ hybridization results), a diagnosis of ameloblastoma changed to adenoid cystic carcinoma (due to MYBL1 fusion presence), a salivary duct carcinoma with an ETV6-NTRK3 fusion (otherwise seen in secretory carcinomas) and novel fusion partners such as EWSR1-BEND2 (otherwise seen in pancreatic neuroendocrine carcinomas). As NGS continues to develop and more widespread clinical implementation increases, we must be cognisant of the need for proper interpretation and in some cases verification using a secondary technique, the limitations of this technique, and the ethical dilemmas one faces when encountering a novel fusion.
Identifiants
pubmed: 32124419
doi: 10.1007/s12105-020-01140-4
pii: 10.1007/s12105-020-01140-4
pmc: PMC7235144
doi:
Substances chimiques
Biomarkers, Tumor
0
CRTC1 protein, human
0
MAML2 protein, human
0
Oncogene Proteins, Fusion
0
Trans-Activators
0
Transcription Factors
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
311-320Références
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