EGFR and BRAF mutations in inverted sinonasal papilloma - a more complex landscape?
Adult
Aged
Aged, 80 and over
Biomarkers, Tumor
/ genetics
DNA Mutational Analysis
ErbB Receptors
/ genetics
Female
Genetic Heterogeneity
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Mutation
Papilloma, Inverted
/ genetics
Paranasal Sinus Neoplasms
/ genetics
Phenotype
Proto-Oncogene Proteins B-raf
/ genetics
BRAF mutation
EGFR mutation
Genetic heterogeneity
Inverted sinonasal papilloma
Tumor evolution
Journal
Virchows Archiv : an international journal of pathology
ISSN: 1432-2307
Titre abrégé: Virchows Arch
Pays: Germany
ID NLM: 9423843
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
received:
19
11
2019
accepted:
05
10
2020
revised:
01
09
2020
pubmed:
14
10
2020
medline:
18
5
2021
entrez:
13
10
2020
Statut:
ppublish
Résumé
Inverted (Schneiderian) sinonasal papilloma (ISP) is a neoplasm derived from mucosa of the sinonasal tract characterized by local aggressive growth, a tendency to recur and an association with sinonasal carcinoma. The etiology of ISP remains unclear. Recently, identical mutations in exons 19 and 20 of the oncogene EGFR were reported in ISP and ISP-associated sinonasal carcinoma. Nevertheless, it remains unclear whether recurring ISPs show identical EGFR mutations at different time points or whether these mutations are identical throughout the respective ISP sample. We used Sanger sequencing to test 60 formalin-fixed paraffin embedded ISP samples from 40 patients regarding mutations in exons 19 and 20 of EGFR-together with exon 15 of BRAF. Overall, 32 samples of 22 patients showed a mutation in EGFR exon 20, whereas 28 samples of 18 patients showed none. No mutation in EGFR exon 19 was found in any sample. Four samples of four patients showed a BRAF exon 15 mutation. Interestingly, samples of four patients exhibited genetic heterogeneity, enabling us to report this in ISP for the first time.
Identifiants
pubmed: 33048186
doi: 10.1007/s00428-020-02945-y
pii: 10.1007/s00428-020-02945-y
pmc: PMC8286953
doi:
Substances chimiques
Biomarkers, Tumor
0
EGFR protein, human
EC 2.7.10.1
ErbB Receptors
EC 2.7.10.1
BRAF protein, human
EC 2.7.11.1
Proto-Oncogene Proteins B-raf
EC 2.7.11.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
915-924Commentaires et corrections
Type : ErratumIn
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