DNA methylation-based classification of sinonasal undifferentiated carcinoma.
Adult
Aged
Aged, 80 and over
Carcinoma
/ diagnosis
Carcinoma, Neuroendocrine
/ diagnosis
Carcinoma, Small Cell
/ diagnosis
DNA Methylation
Female
Humans
Immunohistochemistry
Isocitrate Dehydrogenase
/ genetics
Male
Maxillary Sinus Neoplasms
/ diagnosis
Middle Aged
Mutation
SMARCB1 Protein
/ genetics
Young Adult
Journal
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
ISSN: 1530-0285
Titre abrégé: Mod Pathol
Pays: United States
ID NLM: 8806605
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
received:
21
02
2019
accepted:
15
04
2019
revised:
11
04
2019
pubmed:
13
6
2019
medline:
26
6
2020
entrez:
13
6
2019
Statut:
ppublish
Résumé
Sinonasal undifferentiated carcinoma (SNUC) is an aggressive malignancy harboring IDH2 R172 mutations in >80% cases. We explored the potential of genome-wide DNA methylation profiling to elucidate tumor biology and improve the diagnosis of sinonasal undifferentiated carcinoma and its histologic mimics. Forty-two cases, including sinonasal undifferentiated, large cell neuroendocrine, small cell neuroendocrine, and SMARCB1-deficient carcinomas and olfactory neuroblastoma, were profiled by Illumina Infinium Methylation EPIC array interrogating >850,000 CpG sites. The data were analyzed using a custom bioinformatics pipeline. IDH2 mutation status was determined by the targeted exome sequencing (MSK-IMPACT
Identifiants
pubmed: 31186531
doi: 10.1038/s41379-019-0285-x
pii: S0893-3952(22)00999-1
pmc: PMC7391258
mid: NIHMS1611775
doi:
Substances chimiques
SMARCB1 Protein
0
SMARCB1 protein, human
0
Isocitrate Dehydrogenase
EC 1.1.1.41
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1447-1459Subventions
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
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