Open AccessMedullary Pancreatic Carcinoma Due to Somatic POLE Mutation
Author(s) -
Valentyna Kryklyva,
Esther Ter Linden,
Leonie I. Kroeze,
Richarda M. de Voer,
Berit Kolk,
Martijn W J Stommel,
John J. Hermans,
Claudio Luchini,
Laura D. Wood,
Ralph H. Hruban,
Irıs D. Nagtegaal,
Marjolijn J. L. Ligtenberg,
Lodewijk A.A. Brosens
Publication year - 2020
Publication title -
pancreas
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.061
H-Index - 104
eISSN - 1536-4828
pISSN - 0885-3177
DOI - 10.1097/mpa.0000000000001588
Subject(s) - somatic cell , mutation , adenocarcinoma , microsatellite instability , medicine , pancreatic cancer , germline mutation , cancer research , carcinoma , dna mismatch repair , medullary cavity , cancer , biology , microsatellite , gene , colorectal cancer , genetics , allele
Medullary pancreatic carcinoma (MPC) is a rare histological variant of pancreatic ductal adenocarcinoma (PDAC). Because of its rarity, data on the molecular background of MPC are limited. Previous studies have shown that a subset of MPCs is microsatellite instable due to mismatch repair deficiency. Here, we present a unique case of a female patient in her 60s who is a long-term survivor after surgery for pancreatic cancer. The patient had a microsatellite stable MPC with a somatic mutation of the polymerase epsilon gene (POLE). Both microsatellite instable and POLE-mutated cancers are usually associated with high tumor mutational burden and antigen load, resulting in a prominent antitumor immune response and overall better survival. The current case illustrates that, in addition to mismatch repair deficiency, MPC can develop because of a somatic POLE mutation, resulting in a tumor with a high tumor mutational burden and leading to a better prognosis compared with conventional PDAC. This new finding may have important implications in the management of patients with MPC and calls for further studies on the role of POLE in PDAC.