Hege G. Russnes, et al: Breast Cancer Molecular Stratification From Intrinsic Subtypes to Integrative Clusters. The American Journal of Pathology. Vol.

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Presentation transcript:

Hege G. Russnes, et al: Breast Cancer Molecular Stratification From Intrinsic Subtypes to Integrative Clusters. The American Journal of Pathology. Vol. 187, October 2017.

Maurice Chan et al: Development of a Next-Generation Sequencing Method for BRCA Mutation Screening. The Journal of Molecular Diagnostic. Vol. 14, November 2012.

Metodologie di Anatomia Patologica per lo studio di Biomarcatori Predittivi di risposta terapeutica

BRCA2 Gene Variants from Formalin Fixed Paraffin Embedded Samples A Multi-Center Assessment of a next-Generation Sequencing Assay fpr Detection of Germline and Somatic BRCA1 and BRCA2 Gene Variants from Formalin Fixed Paraffin Embedded Samples Jon Sherlock, Charles Scafe, Gary Bee, Goutam Nistala, Adam Broomer, & John Bushop – Thermo Fisher Scientific . 180 Oyster Point Blvd South San Francisco CA 94080 Workflow Analysis Participating Laboratories Results

Maurice Chan et al: Development of a Next-Generation Sequencing Method for BRCA Mutation Screening. The Journal of Molecular Diagnostic. Vol. 14, November 2012.

Prognostic (Recurrence Risk) Predictive (Treatment Benefit) Prognostic & Predictive Markers Used in Breast Cancer Management Prognostic (Recurrence Risk) Predictive (Treatment Benefit) •Axillary node status •Histologic type/grade •Tumour size •Patient age •Lymphatic/Vascular invasion •ER/PR status •HER2 neustatus •Endopredict •Prosigna •uPAPAI1 •OncotypeDX® test •ER/PR status •HER2 neustatus •OncotypeDX® test Sunali Mehta et al: Predictive and prognostic molecular markers for cancer medicine.

The Oncotype DX® Breast Cancer Test 16 Cancers and 5 Reference Genes from 3 studies It is a 21 gene genomic test (16 tumourgenes and 5 reference genes). • Uses RT-PCR technology on formalin fixed tissue. • Quantitatively predicts the likelihood of breast cancer recurrence in women with newly diagnosed, invasive EBC. • Is the only assay that has been demonstrated to be predictive of likelihood of benefit from chemotherapy. • Is included clinical practice guidelines (St Gallen, ESMO, ASCO®, NCCN®) and NICE4-7 Proliferation Ki-67 STK 15 Survivin Cyclin B MYBL2 OESTROGEN ER PR Bcl-2 SCUBE 2 GSTM1 BAG1 Invasion Stromelysin 3 Cathepsin L2 CD86 Reference b-actin GAPDH RPLPO GUS TFRC HER2 GRB7 Harris L, et al. J ClinOncol. 2007;33(25):5287-5312. 2. Paik S, et al. JClinOncol. 2006.

Elements of analytic validation OncotypeDX (Genomic Health, USA) Elements of analytic validation • Analytical sensitivity (limits of detection and quantitation) • Assay precision and linear dynamic range • Analytical reproducibility • PCR amplification efficiency • Sample and reagent stability • Reagent calibration • Instrument validation and calibration

Roberta Sgariglia, Pasquale Pisapia, Mariantonia Nacchio, Caterina De Luca, Francesco Pepe, Maria Russo, Claudio Bellevicine, GiancarloTroncone, Umberto Malapelle. Multiplex digital color-coded barcode technology on RNA extracted from routine cytological samples of Non Small Cell Lung Cancer patients: pilot study. Journal of Clinical Patholgoy 2017. In press

neoplastic cell percentage Staining [RNA] RIN 1 40 Papanicolau 4.14 3.8 2 60 4.80 4.0 3 35 5.04 4 55 Diff-Quik 4.32 4.2 5 75 4.02 4.6 6 80 3.90 7 30 4.50 8 50 12.96 9 3.96 10 70 9.54 11 4.26 3.4 12 3.24 3.6 N FOV Counted FOV Count FOV ratio (%) BD 1 180 194 93 0,47 2 192 99 0,37 3 193 0,34 4 0,42 5 6 190 98 0,29 7 0,4 8 0,36 9 0,43 10 31 16 11 188 97 12 191 0,16 Roberta Sgariglia, Pasquale Pisapia, Mariantonia Nacchio, Caterina De Luca, Francesco Pepe, Maria Russo, Claudio Bellevicine, GiancarloTroncone, Umberto Malapelle. Multiplex digital color-coded barcode technology on RNA extracted from routine cytological samples of Non Small Cell Lung Cancer patients: pilot study. Journal of Clinical Patholgoy 2017. In press