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Molecular analysis of NUT-positive poromas and porocarcinomas identifies novel break points of YAP1::NUTM1 fusions.

Justin T SnowNatalia GeorgantzoglouDonald C GreenOurania ParraRobert E LeBlancShaofeng YanAravindhan SriharanShabnam MomtahenKimberley N WinnickEmmanouil DimonitsasSpiros StavrianosEleftheria LakiotakiPenelope KorkolopoulouKyriakos RevelosRuifeng GuoKonstantinos D Linos
Published in: Journal of cutaneous pathology (2022)
While no novel NUTM1 fusion partners were identified within our cohort, 12 of 13 cases had discoverable NUTM1 fusions; YAP1-NUTM1 fusion was detected in 11 cases (92%) and WWTR1-NUTM1 in 1 case (8%). These data corroborate findings from other recent investigations and further substantiate the utility of NUT IHC in diagnosing a subset of poroid neoplasms. In addition, two of our cases harbored fusions of YAP1 exon 6 to NUTM1 exon 3 and YAP1 exon 8 to NUTM1 exon 2, which have not been reported before in poroid neoplasms and indicate novel break points of YAP1.
Keyphrases
  • gene expression
  • electronic health record
  • machine learning
  • big data
  • hiv testing