Research Papers:

Copy number gain of chromosome 3q is a recurrent event in patients with intraductal papillary mucinous neoplasm (IPMN) associated with disease progression

Sandra Durante, Silvia Vecchiarelli, Annalisa Astolfi _, Elisa Grassi, Riccardo Casadei, Donatella Santini, Riccardo Panzacchi, Claudio Ricci, Salvatore Serravalle, Giuseppe Tarantino, Mirella Falconi, Gabriella Teti, Valentina Indio, Andrea Pession, Francesco Minni, Guido Biasco and Mariacristina Di Marco

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Oncotarget. 2016; 7:74797-74806. https://doi.org/10.18632/oncotarget.11501

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Sandra Durante1,*, Silvia Vecchiarelli2,*, Annalisa Astolfi1, Elisa Grassi2, Riccardo Casadei3, Donatella Santini4, Riccardo Panzacchi4, Claudio Ricci3, Salvatore Serravalle5, Giuseppe Tarantino1, Mirella Falconi6, Gabriella Teti6, Valentina Indio1, Andrea Pession5, Francesco Minni3, Guido Biasco1,2, Mariacristina Di Marco2

1Giorgio Prodi Cancer Research Centre, University of Bologna, Bologna, Italy

2Department of Experimental, Diagnostic and Specialty Medicine University of Bologna, Sant’Orsola-Malpighi Hospital, Bologna, Italy

3Department of Medical and Surgical Sciences, University of Bologna, Sant’Orsola-Malpighi Hospital, Bologna, Italy

4Pathology Unit, Sant'Orsola-Malpighi Hospital, Bologna, Italy

5Department of Medical and Surgical Sciences, “Lalla Seràgnoli” Hematology-Oncology Unit, University of Bologna, Bologna, Italy

6DIBINEM—Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy

*These authors contributed equally to this work

Correspondence to:

Annalisa Astolfi, email: [email protected]

Keywords: PDA, IPMN, chromosome 3, NGS, PIK3CA

Received: April 11, 2016     Accepted: August 10, 2016     Published: August 22, 2016


Background: Intraductal papillary mucinous neoplasm (IPMN) is the most common cystic preneoplastic lesion of pancreatic cancer. We used an approach coupling high resolution cytogenetic analysis (Affymetrix Oncoscan FFPE Array) with clinically-oriented bioinformatic interpretation of data to understand the most relevant alterations of precursor lesions at different stages to identify new diagnostic markers.

Results: We identified multiple copy number alterations, particularly in lesions with severe dysplasia, with 7 IPMN with low-intermediate dysplasia carrying a nearly normal karyotype and 13 IPMN with complex Karyotype (> 4 alterations), showing high grade dysplasia. A specific gain of chromosome arm 3q was found in IPMN with complex Karyotype (92%). This gain of 3q is particularly interesting for the presence of oncogenes such as PIK3CA, GATA2 and TERC that are part of pathways that deregulate cell growth and promote disease progression. Quantitative PCR and FISH analysis confirmed the data . Further demonstration of the overexpression of the PIK3CA gene supports the identification of this alteration as a possible biomarker in the early identification of patients with IPMN at higher risk for disease progression.

Materials and methods: High resolution cytogenetic analysis was performed in 20 formalin fixed paraffin embedded samples of IPMN by Oncoscan FFPE assay. Results were validated by qPCR and FISH analysis.

Conclusions: The identification of these markers at an early stage of disease onset could help to identify patients at risk for cancer progression and new candidates for a more specific targeted therapy.

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