Literature DB >> 26171187

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

David Chan1, Stephen Clarke1, Anthony J Gill1, Lorraine Chantrill2, Jas Samra1, Bob T Li3, Tristan Barnes1, Kazi Nahar1, Nick Pavlakis1.   

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.

Entities:  

Keywords:  neuroendocrine tumour; pancreatic cancer; partner and localizer of breast cancer 2, early onset

Year:  2015        PMID: 26171187      PMCID: PMC4487051          DOI: 10.3892/mco.2015.533

Source DB:  PubMed          Journal:  Mol Clin Oncol        ISSN: 2049-9450


  10 in total

1.  Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.

Authors:  Silvia Casadei; Barbara M Norquist; Tom Walsh; Sunday Stray; Jessica B Mandell; Ming K Lee; John A Stamatoyannopoulos; Mary-Claire King
Journal:  Cancer Res       Date:  2011-02-01       Impact factor: 12.701

2.  Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.

Authors:  Bing Xia; Qing Sheng; Koji Nakanishi; Akihiro Ohashi; Jianmin Wu; Nicole Christ; Xinggang Liu; Maria Jasin; Fergus J Couch; David M Livingston
Journal:  Mol Cell       Date:  2006-06-23       Impact factor: 17.970

3.  Personalizing cancer treatment in the age of global genomic analyses: PALB2 gene mutations and the response to DNA damaging agents in pancreatic cancer.

Authors:  Maria C Villarroel; N V Rajeshkumar; Ignacio Garrido-Laguna; Ana De Jesus-Acosta; Siân Jones; Anirban Maitra; Ralph H Hruban; James R Eshleman; Alison Klein; Daniel Laheru; Ross Donehower; Manuel Hidalgo
Journal:  Mol Cancer Ther       Date:  2010-12-06       Impact factor: 6.261

4.  Differences in survival by histologic type of pancreatic cancer.

Authors:  Megan Dann Fesinmeyer; Melissa A Austin; Christopher I Li; Anneclaire J De Roos; Deborah J Bowen
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2005-07       Impact factor: 4.254

5.  Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.

Authors:  Siân Jones; Ralph H Hruban; Mihoko Kamiyama; Michael Borges; Xiaosong Zhang; D Williams Parsons; Jimmy Cheng-Ho Lin; Emily Palmisano; Kieran Brune; Elizabeth M Jaffee; Christine A Iacobuzio-Donahue; Anirban Maitra; Giovanni Parmigiani; Scott E Kern; Victor E Velculescu; Kenneth W Kinzler; Bert Vogelstein; James R Eshleman; Michael Goggins; Alison P Klein
Journal:  Science       Date:  2009-03-05       Impact factor: 47.728

6.  Increased survival in pancreatic cancer with nab-paclitaxel plus gemcitabine.

Authors:  Daniel D Von Hoff; Thomas Ervin; Francis P Arena; E Gabriela Chiorean; Jeffrey Infante; Malcolm Moore; Thomas Seay; Sergei A Tjulandin; Wen Wee Ma; Mansoor N Saleh; Marion Harris; Michele Reni; Scot Dowden; Daniel Laheru; Nathan Bahary; Ramesh K Ramanathan; Josep Tabernero; Manuel Hidalgo; David Goldstein; Eric Van Cutsem; Xinyu Wei; Jose Iglesias; Markus F Renschler
Journal:  N Engl J Med       Date:  2013-10-16       Impact factor: 91.245

7.  Mining the genomes of exceptional responders.

Authors:  David K Chang; Sean M Grimmond; T R Jeffry Evans; Andrew V Biankin
Journal:  Nat Rev Cancer       Date:  2014-05       Impact factor: 60.716

8.  Breast-cancer risk in families with mutations in PALB2.

Authors:  Antonis C Antoniou; Silvia Casadei; Tuomas Heikkinen; Daniel Barrowdale; Katri Pylkäs; Jonathan Roberts; Andrew Lee; Deepak Subramanian; Kim De Leeneer; Florentia Fostira; Eva Tomiak; Susan L Neuhausen; Zhi L Teo; Sofia Khan; Kristiina Aittomäki; Jukka S Moilanen; Clare Turnbull; Sheila Seal; Arto Mannermaa; Anne Kallioniemi; Geoffrey J Lindeman; Saundra S Buys; Irene L Andrulis; Paolo Radice; Carlo Tondini; Siranoush Manoukian; Amanda E Toland; Penelope Miron; Jeffrey N Weitzel; Susan M Domchek; Bruce Poppe; Kathleen B M Claes; Drakoulis Yannoukakos; Patrick Concannon; Jonine L Bernstein; Paul A James; Douglas F Easton; David E Goldgar; John L Hopper; Nazneen Rahman; Paolo Peterlongo; Heli Nevanlinna; Mary-Claire King; Fergus J Couch; Melissa C Southey; Robert Winqvist; William D Foulkes; Marc Tischkowitz
Journal:  N Engl J Med       Date:  2014-08-07       Impact factor: 91.245

9.  PALB2 and breast cancer: ready for clinical translation!

Authors:  Melissa C Southey; Zhi L Teo; Ingrid Winship
Journal:  Appl Clin Genet       Date:  2013-07-19

10.  Returning individual research results for genome sequences of pancreatic cancer.

Authors:  Amber L Johns; David K Miller; Skye H Simpson; Anthony J Gill; Karin S Kassahn; Jeremy L Humphris; Jaswinder S Samra; Katherine Tucker; Lesley Andrews; David K Chang; Nicola Waddell; Marina Pajic; John V Pearson; Sean M Grimmond; Andrew V Biankin; Nikolajs Zeps
Journal:  Genome Med       Date:  2014-05-29       Impact factor: 11.117

  10 in total
  4 in total

Review 1.  Personalized and precision medicine: integrating genomics into treatment decisions in gastrointestinal malignancies.

Authors:  Trang H Au; Kai Wang; David Stenehjem; Ignacio Garrido-Laguna
Journal:  J Gastrointest Oncol       Date:  2017-06

2.  Prospective Feasibility Trial for Genomics-Informed Treatment in Recurrent and Progressive Glioblastoma.

Authors:  Sara A Byron; Nhan L Tran; Rebecca F Halperin; Joanna J Phillips; John G Kuhn; John F de Groot; Howard Colman; Keith L Ligon; Patrick Y Wen; Timothy F Cloughesy; Ingo K Mellinghoff; Nicholas A Butowski; Jennie W Taylor; Jennifer L Clarke; Susan M Chang; Mitchel S Berger; Annette M Molinaro; Gerald M Maggiora; Sen Peng; Sara Nasser; Winnie S Liang; Jeffrey M Trent; Michael E Berens; John D Carpten; David W Craig; Michael D Prados
Journal:  Clin Cancer Res       Date:  2017-10-26       Impact factor: 12.531

Review 3.  Advanced pancreatic ductal adenocarcinoma - Complexities of treatment and emerging therapeutic options.

Authors:  Chandra Diwakarla; Katherine Hannan; Nadine Hein; Desmond Yip
Journal:  World J Gastroenterol       Date:  2017-04-07       Impact factor: 5.742

4.  Coexistence of DIPNECH and carotid body paraganglioma: is it just a coincidence?

Authors:  J Pedro; F M Cunha; V Neto; V Hespanhol; D F Martins; S Guimarães; A Varela; D Carvalho
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2020-05-13
  4 in total

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