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Pathogenic PALB2 mutation in metastatic pancreatic adenocarcinoma and neuroendocrine tumour: A case report


Adenocarcinoma of the pancreas is an aggressive malignancy with poor prognosis. Pancreatic neuroendocrine tumours (PNET) comprise ~3% of primary pancreatic neoplasms and they are more heterogeneous in their histological character and outcome. This is the case report of a 73-year-old female patient with synchronously diagnosed pancreatic adenocarcinoma and PNET, which is likely associated with a pathogenic partner and localizer of breast cancer 2, early onset (PALB2) mutation. The potential pathogenic significance of PALB2 and its association with various malignancies were investigated and the potential role of PALB2 in conferring sensitivity to chemotherapeutic agents, such as mitomycin C and cisplatin, was discussed. This case report highlights the significance of ongoing research into the molecular pathogenesis of pancreatic cancer, which may help guide the selection of optimal treatments for this disease, as well as the need for ongoing study of PALB2 as a possible predictive marker of response to DNA-damaging agents.

Type Journal
ISBN 2049-9450 (Print) 2049-9450 (Linking)
Authors Chan, D.; Clarke, S.; Gill, A. J.; Chantrill, L.; Samra, J.; Li, B. T.; Barnes, T.; Nahar, K.; Pavlakis, N.
Garvan Authors Dr Lorraine Chantrill
Publisher Name Molecular and Clinical Oncology
Published Date 2015-01-01 00:00:00
Published Volume 3
Published Issue 4
Published Pages 817-819
Status Published In-print
OpenAccess Link