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Breast Cancer HER-2/neu (PathVysion) FISH Assay

The HER-2 DNA Probe Kit (PathVysion Kit) is designed to detect amplification of the HER-2/neu gene via fluorescence in situ hybridization (FISH) in formalin-fixed paraffin-embedded (FFPE) human breast cancer tissue specimens. The PathVysion Kit (FDA approved) is indicated as an aid to predict disease-free and overall survival in patients with stage II, node-positive breast cancer who have been treated with adjuvant cyclophosphamide, doxorubicin and 5-fluorouracil (CAF) chemotherapy. The assay is also indicated as an aid in the assessment of patients for whom Herceptin (trastuzumab) treatment is being considered.

Overview

Clinical Indications
Breast Cancer.

Clinical Utility

Aids in predicting disease-free and overall survival in patients. Assesses candidates for Herceptin (trastuzumab) treatment.

Methodology and Interpretation

Fluorescence in situ hybridization (FISH). Signals for both HER-2/neu (red) and CEP17 (green) are scored. Amplification of HER2 gene is determined by the calculated the ratio HER-2/CEP17. However HER-2 amplification shows certain diversity due to coamplification, intratumoral heterogeneity, and polysomy of chromosome 17: Co-amplification happens when the HER-2 amplicon is large encompassing the centromere region as well. No evidence for HER-2/neu gene amplification by ratio cutoff would be seen as both HER-2 and the control CEP17 probe are amplified. However, FISH analysis is positive for HER-2 gene amplification. Genetic heterogeneity (GH) of HER-2 is defined as presence of greater than 5% but less than 50% of infiltrating tumor cells with a HER-2/CEP17 ratio of greater than 2.2. At present, the clinical significance of GH in terms of the potential benefit from trastuzumab therapy is unclear. The significance of increased HER-2 copy number associated with polysomy 17 with respect to response to trastuzumab is unclear. However, studies have shown a relationship between chromosome 17 polysomy and increased HER-2 protein expression. This raises the possibility that these individuals may respond to trastuzumab.

Assay Specifications

Reporting HER-2/neu Signals to Centromere 17 Ratio: >2.2 Amplified <1.8 Not Amplified 1.8-2.2 Equivocal Challenges in HER-2/neu testing addressed by FISH: Genetic Heterogeneity: Positive cells are >5% and <50% Equivocal Results: HER-2/CEP17 ratio is between 1.8 and 2.2

Specimen Requirements 10% neutral buffered formalin-fixed paraffin-embedded (FFPE) tissue. 3-5m thick FFPE sections on positively coated slides. Stored and transported at room temperature. Licensure CAP (Laboratory #: 7191582, AU-ID: 1434060), CLIA (Certificate #: 31D1038733), New Jersey (CLIS ID #: 0002299), New York State (PFI: 8192), Pennsylvania (031978), Florida (800018142), Maryland (1395) CPT Codes 88368x2

TAT 5-7 days

PathVysion is a registered trademark of Abbott Molecular.

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2013 Cancer Genetics, Inc. All rights reserved.

Patient Name: Sex: q Male q Female Date of Birth: Specimen: Collected: Received: Reported: Clinical Hx:

Accession Number: CGI ID No: Ordering Physician: Client: Client Account No: Client ID No: Client Address: Telephone:

ERBB2 (HER2/NEU) FISH REPORT PATHVYSION KIT


TOTAL # OF NUCLEI SCORED Average ERBB2 signals/nucleus Average cep17 signals/nucleus Ratio of ERBB2/cep17 60 18.37 RANGE OF ERBB2 FISH SIGNALS/ NUCLEUS & HER2/CEP17 RATIO HER2 gene copy<4 (N) HER2 gene copy 4-6(E) HER2 gene copy >6 (A) CEP 17 copy 2 (N,E,A) >2 in Polysomy of 17 <1.8 (N) 1.8-2.2 (E) >2.2 (A)

1.97 9.32

Number of Readers

ISCN NOMENCULATURE: nuc ish(D17Z1x1.97),(ERBB2x18.37)[60] Summary: Final Interpretation: POSITIVE FOR ERBB2 (HER2/neu) GENE AMPLIFICATION The fluorescence in situ hybridization (FISH) analysis done on invasive breast carcinoma specimen (FFPE) showed AMPLIFIED signal patterns for ERBB2 (HER2/neu) both by HER2/CEP17 ratio and HER2 signals/nucleus criteria. Probe Map:
Centromere 17q11.2-q12 region HER-2 gene Telomere

Ideogram: 17q11.1-q11.1 CEP 17 alpha satellite SpectrumGreen 17q11.2-q12 LSI HER-2/neu SpectrumOrange

17

~190 kb LSI HER-2

CEP 17 green/HER-2/neu red

End of Report

201 Route 17 North Rutherford NJ 07070 Office 201.528.9200 Fax 201.528.9201 www.cancergenetics.com

041013 2013 Cancer Genetics, Inc. All rights reserved.