Li-Fraumeni-associated pancreatic neuroendocrine tumour and XAF1 p.Glu134Ter risk modifier variant

Rachel P Riechelmann; Diogo C Soares; Carla Dias; Dirce M Carraro; Giovana T Torrezan

doi:10.3332/ecancer.2022.1487

Li-Fraumeni-associated pancreatic neuroendocrine tumour and XAF1 p.Glu134Ter risk modifier variant

Ecancermedicalscience. 2022 Dec 8:16:1487. doi: 10.3332/ecancer.2022.1487. eCollection 2022.

Authors

Rachel P Riechelmann¹, Diogo C Soares², Carla Dias^{1

3}, Dirce M Carraro^{4

5}, Giovana T Torrezan^{4

5}

Affiliations

¹ Department of Clinical Oncology, A.C. Camargo Cancer Center, Rua Antônio Prudente 211, São Paulo, SP 01509-010, Brazil.
² Department of Oncogenetics, A.C. Camargo Cancer Center, Rua Antônio Prudente 211, São Paulo, SP 01509-010, Brazil.
³ Instituto do Câncer do Estado de São Paulo, São Paulo, SP 01246-000, Brazil.
⁴ Genomics and Molecular Biology Group, International Research Center/CIPE, A.C. Camargo Cancer Center, Rua Antônio Prudente 211, São Paulo, SP 01509-010, Brazil.
⁵ National Institute of Science and Technology in Oncogenomics and Therapeutic Innovation, São Paulo, SP 01509-010, Brazil.

Abstract

Studies have demonstrated that up to 17% of patients with pancreatic neuroendocrine tumours (pNETs) present pathogenic germline variants (PGVs) in several different genes, irrespective of family cancer history. Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome related to PGVs in the TP53 gene. A previous case of a pNET associated with LFS (c.1009C > T, p.R337C) has been reported. Here we report the first case of a patient with pNET and TP53 p.R337H and XAF1 p.E134* germline variants, expanding the knowledge of LFS and germline mutations in neuroendocrine tumours.

Keywords: Li–Fraumeni; neuroendocrine tumour; pancreas neoplasm.

Publication types

Case Reports