title: Pathogenic PALB2 mutation in metastatic pancreatic adenocarcinoma and neuroendocrine tumour: A case report.
abstract: 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.
authors.affiliation: Northern Sydney Cancer Centre, Royal North Shore Hospital, St. Leonards, NSW, Australia.
authors.forename: David
authors.initials: D
authors.lastname: Chan
authors.affiliation: Northern Sydney Cancer Centre, Royal North Shore Hospital, St. Leonards, NSW, Australia.
authors.forename: Stephen
authors.initials: S
authors.lastname: Clarke
authors.affiliation: Northern Sydney Cancer Centre, Royal North Shore Hospital, St. Leonards, NSW, Australia.
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Gill
authors.affiliation: Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
authors.forename: Lorraine
authors.initials: L
authors.lastname: Chantrill
authors.affiliation: Northern Sydney Cancer Centre, Royal North Shore Hospital, St. Leonards, NSW, Australia.
authors.forename: Jas
authors.initials: J
authors.lastname: Samra
authors.affiliation: Thoracic Oncology Service, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
authors.forename: Bob T
authors.initials: BT
authors.lastname: Li
authors.affiliation: Northern Sydney Cancer Centre, Royal North Shore Hospital, St. Leonards, NSW, Australia.
authors.forename: Tristan
authors.initials: T
authors.lastname: Barnes
authors.affiliation: Northern Sydney Cancer Centre, Royal North Shore Hospital, St. Leonards, NSW, Australia.
authors.forename: Kazi
authors.initials: K
authors.lastname: Nahar
authors.affiliation: Northern Sydney Cancer Centre, Royal North Shore Hospital, St. Leonards, NSW, Australia.
authors.forename: Nick
authors.initials: N
authors.lastname: Pavlakis
keywords: neuroendocrine tumour; pancreatic cancer; partner and localizer of breast cancer 2, early onset