Multiregion whole-exome sequencing of intraductal papillary mucinous neoplasms reveals frequent somatic KLF4 mutations predominantly in low-grade regions.

Kohei FujikuraWaki HosodaMatthäus FelsensteinQianqian SongJohannes G ReiterLily ZhengVioleta Beleva GuthrieNatalia RinconMarco Dal MolinJonathan DudleyJoshua D CohenPei WangCatherine G FischerAlicia M BraxtonMichaël NoëMartine JongepierCarlos Fernández-Del CastilloMari Mino-KenudsonC Max SchmidtMichele T Yip-SchneiderRita T LawlorRoberto SalviaNicholas J RobertsElizabeth D ThompsonRachel KarchinAnne Marie LennonYuchen JiaoLaura D Wood

Published in: Gut (2020)

Hotspot mutations in KLF4 occur at high prevalence in IPMNs. Unique among pancreatic driver genes, KLF4 mutations are enriched in low-grade IPMNs. These data highlight distinct molecular features of low-grade and high-grade dysplasia and suggest diverse pathways to high-grade dysplasia via the IPMN pathway.

Keyphrases

low grade
high grade
transcription factor
risk factors
electronic health record
genome wide
dna methylation
single molecule
copy number