Prognostic impact of HER-2/neu gene copy number determination by fluorescence in situ hybridisation (FISH) versus immunohistochemically detected overexpression in node positive primary breast cancer

1998 ◽  
Vol 34 ◽  
pp. S30
Author(s):  
H. Bojar ◽  
C. Bente ◽  
K. Martin ◽  
K. Struse ◽  
C. Schmoor ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Primary Breast Cancer ◽  
Copy Number ◽  
In Situ Hybridisation ◽  
Gene Copy Number ◽  
Gene Copy ◽  
Prognostic Impact ◽  
Fluorescence In Situ Hybridisation ◽  
Her 2

scholarly journals Clinical significance of ESR1 gene copy number changes in breast cancer as measured by fluorescence in situ hybridisation

2012 ◽  
Vol 66 (2) ◽  
pp. 140-145 ◽  
Author(s):  
Ching-Hung Lin ◽  
Jacqueline M Liu ◽  
Yen-Shen Lu ◽  
Chieh Lan ◽  
Wei-Chung Lee ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Clinical Significance ◽  
Copy Number ◽  
In Situ Hybridisation ◽  
Gene Copy Number ◽  
Disease Free Survival ◽  
Gene Copy ◽  
Fluorescence In Situ Hybridisation ◽  
Copy Number Changes

AimsThe ESR1 gene encodes for oestrogen receptor (ER) α, which plays a crucial role in mammary carcinogenesis and clinical outcome in patients with breast cancer. However, the clinical significance of the ESR1 gene copy number change for breast cancer has not been clarified.MethodsESR1 gene copy number was determined by fluorescence in situ hybridisation (FISH) on tissue sections. A minimum of 20 tumour cells were counted per section, and a FISH ratio of ESR1 gene to CEP6 ≥2.0 was considered ESR1 amplification. A ratio >1.2 but <2.0 was considered ESR1 gain. The ESR1 copy number was further measured by quantitative real-time PCR (Q-PCR) with ASXL2 as a reference.ResultsFISH revealed ESR1 amplification in six cases (4.0%) and ESR1 gain in 13 cases (8.7%) from a total of 150 cases. ESR1 gain and amplification were more common in older patients (p<0.001), and correlated well with ER protein expression (p=0.03) measured by immunohistochemistry, and ESR1 copy number (p<0.001) measured by Q-PCR. Furthermore, the multivariate analysis revealed that ESR1 amplification was associated with a shorter disease-free survival (HR=5.56, p=0.03) and a shorter overall survival (HR=5.11, p=0.04).ConclusionsIn general, the frequency of ESR1 amplification in breast cancer is low when measured by FISH in large sections. ESR1 gain and amplification in breast cancer may be associated with older age and poorer outcomes.

scholarly journals Correlation of Immunohistochemistry and Fluorescence in Situ Hybridization for HER-2 Assessment in Breast Cancer Patients: Single Centre Experience

2018 ◽  
Vol 6 (4) ◽  
pp. 593-599 ◽  
Author(s):  
Magdalena Bogdanovska-Todorovska ◽  
Slavica Kostadinova-Kunovska ◽  
Rubens Jovanovik ◽  
Blagica Krsteska ◽  
Goran Kondov ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
In Situ Hybridisation ◽  
False Negative ◽  
High Sensitivity ◽  
High Specificity ◽  
Fluorescence In Situ Hybridisation ◽  
Breast Cancer Patients ◽  
Her 2

BACKGROUND: Accurate assessment of HER-2 is imperative in selecting patients for targeted therapy. Most commonly used test methods for HER-2 are immunohistochemistry (IHC) and fluorescence in situ hybridisation (FISH). We evaluated the concordance between FISH and IHC for HER-2 in breast cancer samples using Food and Drug Administration approved tests.MATERIAL AND METHODS: Archived paraffin tissue blocks from 73 breast cancer patients were used. HER-2 immunostaining was performed using Ventana anti–HER-2 monoclonal antibody. The FISH assay was performed using PathVysion™ HER-2 DNA Probe Kit.RESULTS: Of the 73 cases 68.5% were IHC 0/1+, 15.07% were IHC 2+ and 16.44% were IHC 3+. Successful hybridisation was achieved in 72 cases. HER-2 FISH amplification was determined in 16.67% cases. Ten IHC 3+ and two IHC 2+ cases were FISH positive. Two of the IHC 3+ cases were FISH negative. Concordance rate was 100%, 18.18% and 83.33% for IHC 0/1+, 2+ and 3+ group, respectively. Total concordance was 84.72%, kappa 0.598 (p < 0.0001). The sensitivity of IHC in detecting IHC 2+ and IHC 3+ cases was 16.7% and 83.3%, and the specificity was 85% and 96.67%, respectively.CONCLUSION: The consistency between the methods was highest for IHC negative and lowest for IHC equivocal cases. The immunohistochemistry showed high sensitivity for IHC 2+/3+ cases and high specificity for IHC 3+ cases. Our results support the view that false-positive rather than false-negative IHC results are a problem with HER-2/IHC testing, and that IHC should be used as an initial screening test, but IHC 2+/ 3+ results should be confirmed by FISH.

Increased gene copy number of KIT and VEGFR2 at 4q12 in primary breast cancer is related to an aggressive phenotype and impaired prognosis

2011 ◽  
Vol 51 (4) ◽  
pp. 375-383 ◽  
Author(s):  
Ida Johansson ◽  
Kristina E. Aaltonen ◽  
Anna Ebbesson ◽  
Dorthe Grabau ◽  
Caroline Wigerup ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Primary Breast Cancer ◽  
Copy Number ◽  
Gene Copy Number ◽  
Gene Copy ◽  
Aggressive Phenotype

TRKA expression and NTRK1 gene copy number across solid tumours

2018 ◽  
Vol 71 (10) ◽  
pp. 926-931 ◽  
Author(s):  
Gianluca Mauri ◽  
Emanuele Valtorta ◽  
Giulio Cerea ◽  
Alessio Amatu ◽  
Michele Schirru ◽  
...  
Keyword(s):  
Lung Adenocarcinoma ◽  
Copy Number ◽  
In Situ Hybridisation ◽  
Gene Copy Number ◽  
Solid Tumours ◽  
Gene Copy ◽  
Unknown Primary ◽  
Gene Rearrangements ◽  
Fluorescence In Situ Hybridisation ◽  
Formalin Fixed Paraffin Embedded

AimsNeurotrophic Tropomyosin Kinase Receptor 1 (NTRK1) gene encodes for the protein Tropomyosin-related kinase A (TRKA). Deregulated activity of TRKA has been shown to have oncogenic potential. We present here the results of an immunohistochemical (IHC) observational cohort study of TRKA expression together with gene copy number (GCN) assessment in various solid tumours.MethodsFormalin-fixed, paraffin-embedded consecutive samples of different tumour types were tested for TRKA expression. Samples showing TRKA IHC staining in at least 10% of cells were analysed by fluorescence in situ hybridisation to assess NTRK1 gene rearrangements and/or individual GCN gain. All patients underwent this molecular assessment within the phase I ALKA-001 clinical trial.Results1043 samples were tested and annotation for histology was available in 1023. Most of the samples were colorectal adenocarcinoma (CRC) (n=550, 52.7%) and lung adenocarcinoma (n=312, 29.9%). 24 samples (2.3%) were biliary tract carcinoma (BTC). Overall, 17 (1.6%) samples were characterised by TRKA IHC expression (four weak, eight moderate, five strong): 9/17 lung adenocarcinoma, 3/17 CRC, 3/17 BTC, 1/17 thyroid cancer and 1/17 cancer of unknown primary. Of these, 1/17 with strong TRKA IHC staining displayed NTRK1 gene rearrangement and 15/17 NTRK1 GCN gain by FISH. No correlation was found between intensity of TRKA IHC staining and number of copies of NTRK1.ConclusionsTRKA expression can be found in 1.6% of solid tumours and can be paralleled by NTRK1 gene rearrangements or mostly GCN gain. The prognostic and translational therapeutic impact of the latter remains to be established.

scholarly journals Multi-gene fluorescence in situ hybridization to detect cell cycle gene copy number aberrations in young breast cancer patients

Cell Cycle ◽  
2014 ◽  
Vol 13 (8) ◽  
pp. 1299-1305 ◽  
Author(s):  
Chunyan Li ◽  
Jingchao Bai ◽  
Xiaomeng Hao ◽  
Sheng Zhang ◽  
Yunhui Hu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cell Cycle ◽  
In Situ Hybridization ◽  
Copy Number ◽  
Gene Copy Number ◽  
Gene Copy ◽  
Cell Cycle Gene ◽  
Breast Cancer Patients ◽  
Young Breast Cancer
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