Back to Search Start Over

Malignant transformation of white sponge nevus: a case report of a novel keratin 4 mutation.

Authors :
Liu D
Zhang T
Zhou H
Wu C
Li T
Jiang L
Source :
BMC oral health [BMC Oral Health] 2024 May 21; Vol. 24 (1), pp. 588. Date of Electronic Publication: 2024 May 21.
Publication Year :
2024

Abstract

Background: White Sponge Nevus (WSN) is traditionally considered a benign genetic disorder affecting the oral mucosa, primarily caused by pathogenic mutations in keratin 4 (KRT4) or keratin 13 (KRT13). Despite its benign nature, recent evidence has begun to question the malignant potential of WSN.<br />Case Presentation: We report a case involving a 70-year-old man who presented with a white lesion on the right floor of his mouth. Initial diagnostic evaluations confirmed the lesion as WSN. Over a one-year follow-up, the lesion underwent malignant transformation, evolving into local epithelial moderate-to-severe dysplasia. Exome sequencing identified a novel insertion mutation in exon 1 of the KRT4 gene, resulting in a deletion-insertion amino acid mutation involving glycine. Single-cell RNA sequencing further revealed altered epithelial proliferation and differentiation dynamics within the lesion.<br />Conclusions: This case not only expands the known genetic spectrum of KRT4 mutations associated with WSN but also provides preliminary evidence suggesting the malignant potential of WSN. The novel pathogenic mutation in KRT4 is postulated to alter epithelial proliferation and differentiation, thereby raising concerns about the malignant transformation of WSN. Further studies are warranted to confirm these findings.<br /> (© 2024. The Author(s).)

Details

Language :
English
ISSN :
1472-6831
Volume :
24
Issue :
1
Database :
MEDLINE
Journal :
BMC oral health
Publication Type :
Academic Journal
Accession number :
38773401
Full Text :
https://doi.org/10.1186/s12903-024-04300-y