SISH/CISH or qPCR as alternative techniques to FISH for determination of HER2 amplification status on breast tumors core needle biopsies: a multicenter experience based on 840 cases

Jacquemier, Jocelyne; Spyratos, Frédérique; Esterni, Benjamin; Mozziconacci, Marie‐Joëlle; Antoine, Martine; Arnould́, Laurent; Lizard, Sarab; Bertheau, Philippe; Lehmann-Che, Jacqueline; Fournier, Cécile; Krieger, Sophie; Bibeau, Frédéric; Lamy, Pierre‐Jean; Chenard, Marie Pierre; Legrain, M; Guinebretière, Jean‐Marc; Loussouarn, Delphine; MacGrogan, Gaëtan; Hostein, Isabelle; Mathieu, Marie Christine; Lacroix, Ludovic; Valent, Alexander; Robin, Y.; Révillion, Françoise; Triki, Magali Lacroix; Seaume, Aline; Vincent‐Salomon, Anne; Crémoux, Patricia de; Portefaix, G.; Xerri, Luc; Vacher, Sophie; Bièche, Ivan; Penault‐Llorca, Frédérique

doi:10.1186/1471-2407-13-351

Cited by 53 publications

(39 citation statements)

References 43 publications

(50 reference statements)

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“…We first optimized our rqPCR assay for HER2 CNs relative to reference gene CNs in GC. We initially chose three candidate genes, RPPH1 (14q11.2), TAOK1 (17q11.2) and EFTUD2 (17q21.31), on the basis of previous reports [11,[20][21][22]] to avoid false increases or decreases in HER2 CN ratios owing to their normal CN variations as well as frequent CN alterations in GC. In microarray-based CN data obtained from the publically available CCLE database using bioinformatics, the smallest variation was found for RPPH1 among these three candidates in 20 GC cell lines (2.107 ± 0.4045, 2.023 ± 0.4694 and 2.207 ± 0.4617 for RPPH1, TAOK1 and EFTUD2, respectively; mean ± SD; Table S3).…”

Section: Resultsmentioning

confidence: 99%

HER2 amplification detected in the circulating DNA of patients with gastric cancer: a retrospective pilot study

et al. 2014

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Background We used real-time quantitative polymerase chain reaction (rqPCR) to detect human epidermal growth factor receptor 2 (HER2) amplification in the circulating cell-free DNA (cfDNA) of patients with gastric cancer (GC), which shows the spatial and temporal intrinsic heterogeneity of HER2 expression/copy number during progression, for liquid biopsy and treatment monitoring. Methods We first enrolled 52 patients with advanced GC who underwent surgery and 40 healthy volunteers. For patients with GC, plasma cfDNA was obtained before surgery (43 patients) and during postoperative treatment (nine of 43 patients). After ribonuclease P RNA component H1 (RPPH1) had been selected as a reference gene for HER2 CN assessment by rqPCR in GC tumours and plasma, plasma HER2-to-RPPH1 ratios were determined retrospectively in a development cohort and an additional independent validation cohort.Results The HER2-to-RPPH1 ratio of GC tissues determined by rqPCR was concordant with routinely determined HER2 status. The plasma HER2-to-RPPH1 ratio was significantly higher for patients with HER2-positive tumours than for those with HER2-negative tumours. The sensitivity and specificity of the plasma HER2-to-RPPH1 ratio test were 0.539 and 0.967, respectively, in the development cohort, and 0.667 and 1.000, respectively, in the validation cohort. HER2 amplifications acquired and lost during tumour progression and treatment, respectively, were apparently detected by repeated assessments of plasma HER2-to-RPPH1 ratios during postoperative treatment. Conclusion Our preliminary data demonstrated the potential clinical use of circulating cfDNA to detect HER2 amplification as a therapeutic marker to detect and monitor HER2 CN status for effective molecular targeted therapy in patients with GC.

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Section: Resultsmentioning

confidence: 99%

HER2 amplification detected in the circulating DNA of patients with gastric cancer: a retrospective pilot study

et al. 2014

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“…[9] IHC is a preferred method for screening and determining cases which need to be genetically evaluated, [11] and IHC using scoring tools such as the "Hercept scale" and, more recently, the ASCO/CAP scale, was the simplest way to identify positive cases likely to benefit from trastuzumab that is susceptible to interobserver variability and, as with any assay technique, required standardization and validation. [12] Thin tissue section FISH is the routinely used method for the detection of gene status in paraffin-embedded breast cancer samples. [13] However, according to this scale, HER2 amplification of 2+ cases had to be confirmed by FISH [12].…”

Section: Introductionmentioning

confidence: 99%

“…[12] Thin tissue section FISH is the routinely used method for the detection of gene status in paraffin-embedded breast cancer samples. [13] However, according to this scale, HER2 amplification of 2+ cases had to be confirmed by FISH [12].…”

Section: Introductionmentioning

confidence: 99%

Comparison of IHC, FISH, ER and PR in Breast Cancer in Western Iran

Payandeh¹,

Sadeghi²,

Sadeghi³

et al. 2014

AJCP

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To evaluate the concordance and discordance between IHC and FISH results for detection of Her2/neu protein, analyses of ER and PR, and also evaluation of the benefit of adjuvant trastuzumab in patients diagnosed with human epidermal growth factor receptor 2 (HER2) -positive invasive ductal carcinoma enrolled onto the Herceptin adjuvant. IHC analysis of ER, PR and HER2 was performed in 133 patients of breast cancer with invasive ductal carcinoma. 90(67.6%) cases were confirmed by FISH. Statistical analysis was performed with IBM SPSS version 19, Kaplan-Meier method and log-rank test. Age mean of patients was 46.39±10.81 years (range, 24-78 years). Concordance rates between IHC and FISH were 32.4% for IHC 2+ and 81.25% for IHC 3+ (P<0.001). There were 17 and 56 patients of IHC 2+ and 3+ with ER positive and also 23 and 59 patients of IHC 2+ and 3+ had PR positive.The 83 patients had age ≤50 years and 50 patients had >50 years. Of 133 the patients, 48(36.1%) patients were treated with trastuzumab and 85(63.9%) were treated without trastuzumab. The overall survival(OS) for patients treating with trastuzumab were mean of 37.8 months and the OS for patients treating without trastuzumab were mean of 20.8 months (P<0.05). The results are that trastuzumab therapy is effective and improves the survival of HER2-positive breast cancer patients and trastuzumab therapy is effective and tolerated for breast cancer with Her-2 positive. There is a statistically significant relationship between ER positive with PR positive and ER negative with PR negative that these results need to more studies with more patients in the world.

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“…Moreover, the authors observed 95% compatibility between FISH and quantitative PCR (qPCR) results carried out in DNA isolated from paraffinembedded tissue samples. The outcomes are more promising than the results of analyses performed by RT-PCR that RNA is more sensitive to degradation during the paraffining process [29].…”

Section: The Significance Of Her2 Status In Breast Cancer Patients Qumentioning

confidence: 99%

“…Gullo et al had observed that HER2 gene amplification is higher in primary tumors rather than in metastases. Moreover, the presence of HER2 abnormalities is associated with the shortening of OS and has no effect on the advancement of disease at the time of diagnosis, advancement of tumor differentiation and expression of estrogen and progesterone receptors [29,30].…”

Section: The Significance Of Her2 Status In Breast Cancer Patients Qumentioning

confidence: 99%

Detection of Chromosomal Abnormalities with Different In Situ Hybridisation Techniques - the Usefulness in Cancer Patients Qualification for Molecularly-Targeted Therapies

Nicoś¹,

Wojas‐Krawczyk²,

Krawczyk³

et al. 2015

Adv Clin Exp Med

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Proper qualification of patients with cancer for an effective treatment regiment is essential to rationalize therapy benefit and costs. The early detection of genetic disorders that are responsible for the stimulation of uncontrolled cancer cells proliferation makes it possible to select a group of patients with a high probability of response to molecularly-targeted therapy. Data has shown that careful analysis of genes mutation using different PCR and sequencing techniques or chromosomal aberrations using in situ hybridization (ISH) techniques have a predictive value for drug targeted therapy. Overexpression of receptors and gene amplification has been reported in various cancers. Their detection is still a considerable challenge, which is connected with the unsatisfactory quality of DNA and low mutated cells percentage compared to cells with no genetic abnormalities in tested material. Different techniques of standardization were performed to prevent false negative results and to increase the sensitivity of qualitative and quantitative evaluation of chromosomal abnormalities. Immunohistochemistry (IHC) technique is useful in the screening of receptor expression in paraffin-embedded tissue samples in different malignant diseases. Whereas ISH techniques, especially fluorescence in situ hybridization (FISH), are now considered the diagnostic gold standard method in detection chromosomal aberrations. Moreover, molecular biology techniques, which are using molecular probes and real-time PCR and quantitative PCR techniques, were also applied for the detection of chromosomal changes. In order to identify the best genetic marker for treatment regiment, it is important to compare results of different studies, which are evaluating the sensitivity of diagnostic techniques and treatment response after a suitable selection factors based on genetic aberrations profile (Adv Clin Exp Med 2015, 24, 4, 715-723).

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SISH/CISH or qPCR as alternative techniques to FISH for determination of HER2 amplification status on breast tumors core needle biopsies: a multicenter experience based on 840 cases

Cited by 53 publications

References 43 publications

HER2 amplification detected in the circulating DNA of patients with gastric cancer: a retrospective pilot study

HER2 amplification detected in the circulating DNA of patients with gastric cancer: a retrospective pilot study

Comparison of IHC, FISH, ER and PR in Breast Cancer in Western Iran

Detection of Chromosomal Abnormalities with Different In Situ Hybridisation Techniques - the Usefulness in Cancer Patients Qualification for Molecularly-Targeted Therapies

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