Endoscopic ultrasound fine-needle biopsy to assess DAXX/ATRX expression and alternative lengthening of telomeres status in non-functional pancreatic neuroendocrine tumors

#3608

Introduction: Death domain-associated protein (DAXX) and/or α-thalassemia/mental retardation X-linked (ATRX) chromatin remodelling genes mutations and alternative lengthening of telomeres (ALT) activation are associated with more aggressive behaviour of non-functional pancreatic neuroendocrine tumors (NF-pNETs).

Aim(s): To evaluate the reliability of such markers on endoscopic-ultrasound fine-needle biopsy (EUS-FNB) specimens. The primary outcome was the concordance rate of markers expression between EUS-FNB and surgical specimens. Secondary aims were the association between markers and lesion aggressiveness and their diagnostic performance in predicting aggressiveness.

Materials and methods: Patients who underwent EUS-FNB and subsequent surgical resection for pNETs between 2017 and 2019 were identified. Immunohistochemistry to evaluate DAXX/ATRX expression and fluorescence in situ hybridization for ALT status were performed.

Conference:

Presenting Author:

Authors: Mastrosimini M, Manfrin E, Remo A, de Bellis M, Pedron S,

Keywords: pancreatic tumor, ALT, FISH, immunohistochemistry,