The importance of the ATRX/DAXX pathway was confirmed by the first-ever pancreatic neuroendocrine neoplasms (pNEN)-specific protein-damaging hotspot mutation in DAXX. In this study both novel genes including the pro-apoptotic CYFIP2 gene and hedgehog signaling PTCH2 and novel pathways such as the MAPK-ERK pathway were implicated in pNEN.
Our data extend these observations and demonstrate a significant increase in Ptch2 expression in the obstructive UPJ segments in a subset of patients with congenital UPJO.
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