Pancreatic neuroendocrine tumours (pNET) and MUTYH germline (GPV) and somatic (SPV) pathogenic variants: A multinational study

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Introduction: GPV and SPV in MUTYH are rare in pNET patients (pts).

Aim(s): To characterise pNET pts with GPV and/or SPV in MUTYH (MUTYH+ pts).

Materials and methods: MUTYH+ pts were retrospectively identified from centres in Brazil, Europe and USA. Data were extracted from medical records. Variants were evaluated by targeted sequencing of cancer associated genes. Aggressive course was defined as rapid progression, transformation to neuroendocrine carcinoma (NEC)-like histology and/or overall survival (OS) < 2 years from 1st line therapy. All cases were diagnosed by expert pathologists.

Conference:

Presenting Author: Riechelmann R

Authors: Riechelmann R, Torrezan G, Cingarlini S, Raj N, Bergsland E,

Keywords: pancreatic neuroendocrine tumour, MUTYH, germline, pathogenic variants, mutations,