ecancermedicalscience

Case Report

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

8 Dec 2022
Rachel P Riechelmann, Diogo C Soares, Carla Dias, Dirce M Carraro, Giovana T Torrezan

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.

Related Articles

Gustavo Hipólito Diaz Infantes, Edgar Fermín Yan Quiroz, Luis Fernando Meza Montoya, José Richard Tenazoa Villalobos
Natalia Camejo, Camila Montenegro, Dahiana Amarillo, Cecilia Castillo, Gabriel Krygier
Asma’u Usman, Shamsu Sahalu Bello, Aisha Abdurrahman, Fatima Abubakar Rasheed, Shuaibu Adam, Abubakar Dahiru
Cristina M Moriguchi-Jeckel, Rafael R Madke, Graciane Radaelli, Alice Viana, Patrícia Nabinger, Bruna Fernandes, Gustavo Gössling, Eduardo H Berdichevski, Eduardo Vilas, Juliana Giacomazzi, Matheus Soares Rocha, João Alfredo Borges, Elias Hoffmann, Samuel Greggio, Gianina T Venturin, Carlos H Barrios, Facundo Zaffaroni, Gustavo Werutsky, Jaderson C da Costa
Uchenna Simon Ezenkwa, Mohammed Ibrahim Imam, Maimuna Orahachi Yusuf, Abdullahi Sani Giade, Iragbogie Al-Mustapha Imoudu, Dauda Abubakar Katagum, Bala Muhammad Audu
Samara T Pacheco, Mauro D Donadio, Felipe Almeida, Juan M O'Connor, Valeria De Miguel, Mariano Dioca, Jose Huaman, Arinilda C Bragagnoli, Rui F Weschenfelder, Paola M Beltran, Rachel P Riechelmann