Theme Member
Dr Ilaria Stefania Pagani

Contact

Phone: 08 812 84336

Email: Ilaria.pagani@sahmri.com

Qualifications

2011 – 2016: Specialization School in Medical Genetics. University of Milan, Milan, Italy. Thesis: “The genomic landscape of mitochondrial DNA mutations in chronic Myeloid Leukaemia”

2007 – 2011: PhD Program in Experimental Medicine and Oncology. University of Insubria, Varese, Italy. Thesis: “p53 family members regulate the Otx1 gene expression in differentiation of breast cancer stem cells and in mammary gland development”

Dec 2008: State Examination for the qualification in Biological Science, Italy

2007: Master Degree in Molecular Biology. University of Insubria, Varese, ItalyThesis: “Regulation of Hyaluronic Acid Synthesis by the AMP-activated Protein Kinase”

Research Focus

Dr. Ilaria S Pagani joined the Leukaemia Research Group at SAHMRI in July 2014, developing two projects on chronic myeloid leukaemia (CML).

CML is a myeloproliferative disease characterize by the t(9;22)(q34;q11) balanced reciprocal translocation. The hallmark of the CML is the BCR/ABL1 fusion gene on Philadelphia chromosome (Ph), which encodes for a constitutively active protein tyrosine kinase (TK) that confers proliferative advantages to the Ph-positive clone. Tyrosine kinase inhibitors (TKIs) dramatically improved the survival of chronic myeloid leukaemia (CML) patients. TK inhibitors (TKIs) have revolutionized the management of the CML, providing target therapy for patients. Despite the success of TKIs in long-term survival, variations in treatment outcome suggest a possible secondary mechanism of resistance due to the persistence of a pre-existing clone that had acquired additional genetic lesions. The first project is the characterization of the genomic landscape of mitochondrial (mt) DNA mutations in CML by next generation sequencing techniques, identifying a sub-group of patients that respond well to therapy. Next goal will be to determine whether mtDNA mutations influence the susceptibility of CML cells to undergo apoptosis in response to tyrosine kinase inhibition.

Even if 50% of patients who achieved a deep molecular response and maintain it for 2 years can stop TKIs without relapsing, about half of patients experience molecular relapse. The second project is the investigation of whether lineage and proliferative potential of residual leukaemia are key determinants of treatment free remission after stopping therapy in comparison with relapse patients.

Publications

Ilaria Stefania Pagani, Chung Hoow Kok,et al.Targeted Next-Generation Sequencing of Paired Diagnostic and Remission Samples to Detect Mitochondrial DNA Mutations Associated with Leukaemia. Submitted to The Journal of Molecular DIagnostics. 2016.

Porta G, Pagani IS, Pirrone C. gDNA Q-PCR for clinical monitoring of CML. Cell Cycle. 2015.

Ilaria S. Pagani, Orietta Spinelli, et al. Genomic quantitative real-time PCR proves residual disease posivitity in more than 30% samples with negative mRNA-based qRT-PCR in Chronic Myeloid Leukemia. Molecular monitoring of MRD in CML. Oncoscience. 2014.

Azzolini C, Pagani IS, et al. Expression of VEGF-A, Otx Homeobox and p53 Family Genes in Proliferative Vitreoretinoipathy. Mediators Inflamm. 2013.

Alessandro Terrinoni, Ilaria Stenania Pagani, et al. OTX1 expression in breast cancer is regulated by p53. Oncogene. 2011.

Ilaria Stefania Pagani, Allessandro Terrinoni, et al. The mammary gland and the homeobox gene Otx1. Breast Journal. 2010.

Abstract Publications

Ilaria Stefania Pagani, Chung Hoow Kok, et al. Mitochondrial DNA mutations identify clonal heterogeneity in chronic myeloid leukaemia. 21st Congress of the European Hematology Association (EHA), 9-12 June 2016. Abstract published in Haematologica (2016).

Ilaria Stefania Pagani, Chung How Kok, et al. The genomic landscape of mitochondrial DNA mutations in chronic myeloid leukaemia. European Society Human Genetics (ESHG) Annual Conference, Barcelona, Spain, 21-24 May 2016. Abstract published in Eur J Human Genet (2016).

Ilaria Stefania Pagani, Cristina Pirrone, Elisabetta Amelotti, et al. TAp73α regulates Otx1 expression during breast cancer stem cells differentiation and in response to cisplatin treatment.European Society Human Genetics (ESHG) Annual Conference, Milano, Italy, 31 May 2014. Abstract published in Eur J Human Genet (2014). Abstract selected in the TOP 10 best Abstract.

Cristina Pirrone, Ilaria Stefania Pagani, et al. New molecular technique to monitor minimal residual diseased in CML. European Society Human Genetics (ESHG) Annual Conference, Milano, Italy, 31 May 2014. Abstract published in Eur J Human Genet (2014).

Ilaria S. Pagani, et al. Genomic quantitative real-time PCR assay proves residual disease positivity in more than 30% samples with negative mRNA-based qRT-PCR results in Chronic Myeloid Leukemia. European Society for Blood and bone Marrow Transplantation (EBMT) Annual Meeting, 30 March, Milan, Italy, 2014. Abstract published in Bone Marrow Transpl (2014).

Ilaria Stefania Pagani, et al. Quantitative DNA Real-Time PCR Compared To mRNA and Cytogenetic Assays To Monitor Minimal Residual Disease In Chronic Myeloid Leukemia. American Society of Hematology (ASH) Annual Meeting, New Orleans, US, 7-10 December, 2013. Abstract published in Blood (2013).

Claudio Azzolini, Ilaria Stefania Pagani, Davide Borroni, et al. Expression Of VEGF-A Gene In Normal Retina And In PVR Retina.Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting, Seattle. 2013. Abstract published in Invest Ophthalmol Vis Sci (2013).

Claudio Azzolini, Ilaria Pagani, et al. Otx2 And VegfA Expression And P53-Otx1 Differentiation Pathway In Proliferative Vitreoretinopathy. Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting, Fort Lauderdale, Florida, US, 6-10 May 2012. Abstract published in Invest Ophthalmol Vis Sci (2012).

Ilaria Stefania Pagani, Orietta Spinelli et al. Chronic myeloid leukemia: molecular monitoring of residual disease by genomic DNA compared to conventional mRNA analysis in follow-ups up to 8 year. American Society of Hematology (ASH) Annual Meeting, San Diego, CA, US, 10-13 December 2011.Abstract published in Blood (2011).

Pagani IS, et al. p53 family members regulatethe Otx1 gene expression in differentiation of breast cancer stem cells and in mammary gland development. 11th FEBS Young Scientist Forum and at 36th FEBS Congress, Torino, Italy, 2011. Astract published in FEBS J (2011).

Azzolini C, Donati C, Borroni D, Moriondo A, Pagani IS, et al. Evaluation of the p53-Otx1 pathway in the retina. Vision and Ophthalmology (ARVO) Annual Meeting, Fort Lauderdale, Florida, May 1-5, 2011. Abstract published in Invest Ophthalmol Vis Sci (2011).

Awards/Funding

December, 2013: American Society of Hematology (ASH) International Post-doctoral Fellow (IPDF) approval. $500 ASH Abstract Achievement Award

2012-2014: Winner of the Italian Association for Cancer Research (AIRC) Fellowship.

March, 2011: Competitive Selective Travel Fellowship covering all expenses to participate at 11th FEBS Young Scientist Forum and at 36th FEBS Congress

2011-2012: Winner of the Italian Associationagainst Leukaemia and Lymphoma (AIL) Fellowship

2007-2011: Insubria University PhD Scholarship

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SAHMRI is located on the traditional lands of the Kaurna Nation.

The SAHMRI community acknowledges and respects the traditional owners, the family clans who are the Kaurna Nation from the Adelaide Plains region of South Australia. We acknowledge the clans of the Kaurna Nation and the sacred knowledge they hold for their country. We pay our respects to the Kaurna Nation, their ancestors and the descendants of these living family clans today.