Evaluation of analytical accuracy of HER2 status in patients with breast cancer: Comparison of HER2 GPA with HER2 IHC and HER2 FISH.
Biomarkers, Tumor
/ genetics
Breast Neoplasms
/ diagnosis
Carcinoma
/ diagnosis
Female
Gene Expression
Humans
Immunohistochemistry
In Situ Hybridization, Fluorescence
Lymphatic Metastasis
Observer Variation
Protein Array Analysis
Receptor, ErbB-2
/ genetics
Reproducibility of Results
Sensitivity and Specificity
Breast cancer
fluorescence in situ hybridization (FISH)
gene-protein assay (GPA)
human epidermal growth factor receptor 2 (HER2)
immunohistochemistry (IHC)
Journal
APMIS : acta pathologica, microbiologica, et immunologica Scandinavica
ISSN: 1600-0463
Titre abrégé: APMIS
Pays: Denmark
ID NLM: 8803400
Informations de publication
Date de publication:
Nov 2020
Nov 2020
Historique:
received:
27
02
2020
accepted:
20
08
2020
pubmed:
30
8
2020
medline:
23
10
2020
entrez:
30
8
2020
Statut:
ppublish
Résumé
Human epidermal growth factor receptor 2 (HER2) gene status and overexpression, occurring in ~ 13.6% of primary breast cancers, is essential for identifying patients likely to benefit from biological treatment. In this method of evaluation study, we tested and compared the HER2 gene-protein assay (GPA) with routine HER2 immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH). The GPA was evaluated using 67 formalin-fixed paraffin-embedded (FFPE) HER2 equivoval IHC (2+) breast cancer tissue samples. Overall, agreement between GPA silver in situ hybridization (SISH) and FISH was 91.9% (57/62). Regression analysis revealed slightly higher, but non-significant difference in HER2/chromosome enumeration probe 17 (CEP17) ratio for GPA as compared to FISH (p = 0.074). Intraclass correlation coefficients (ICCs) of 0.94 and Spearman´s rank correlation coefficients of 0.93 (p < 0.0001) for FISH and GPA SISH suggested strong inter-observer association for methods with one observer counting on average 0.23 significant higher for GPA SISH (p = 0.014). Intra-observer IHC method reproducibility was 52.6% (κ = 0.3122, p = 0.004) and 79.7% (κ = 0.6428, p = 0.9197), suggesting fair significant and substantial non-significant difference between tests for reviewers. Inter-observer reproducibility for IHC methods was 53%. While inter-observer reproducibility for experienced IHC interpretation suggested significant differences (κ = 0.3636, p = 0.0332), unexperienced interpretation of IHC GPA suggested fair non-significant difference between reviewers (κ = 0.3101, p = 0.0747). Using FISH as reference, the diagnostic indices for GPA SISH were as follows: sensitivity 100%, specificity 95% and accuracy 92%. Inaccuracy between tests was in 80% of cases due to ISH categorization as equivocal by one of the methods. IHC results highlight that it may be beneficial with a method for simultaneously visualization of HER2 gene and protein status.
Substances chimiques
Biomarkers, Tumor
0
ERBB2 protein, human
EC 2.7.10.1
Receptor, ErbB-2
EC 2.7.10.1
Types de publication
Comparative Study
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
573-582Informations de copyright
© 2020 Scandinavian Societies for Medical Microbiology and Pathology.
Références
Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin 2018;68:394-24.
Grunau GL, Gueron S, Pornov B, Linn S. The risk of cancer might be lower than we think. alternatives to lifetime risk estimates. Rambam Maimonides Med J 2018;9:1-10.
Köninki K, Tanner M, Auvinen A, Isola J. HER-2 positive breast cancer: decreasing proportion but stable incidence in Finnish population from 1982 to 2005. Breast Cancer Res 2009;11:1-6.
Ross JS, Slodkowska EA, Symmans WF, Pusztai L, Ravdin PM, Hortobagyi GN. The HER-2 receptor and breast cancer: ten years of targeted anti-HER-2 therapy and personalized medicine. Oncologist 2009;14:320-68.
Penault-Llorca F, Bilous M, Dowsett M, Hanna W, Osamura RY, Rüschoff J, et al. Emerging technologies for assessing HER2 amplification. Am J Clin Pathol 2009;132:539-48.
Furrer D, Sanschagrin F, Jacob S, Diorio C. Advantages and disadvantages of technologies for HER2 testing in breast cancer specimens. Am J Clin Pathol 2015;144:686-703.
Pernas S, Tolaney S. HER2-positive breast cancer: new therapeutic frontiers and overcoming resistance. Ther Adv Med Oncol 2019;11:1-16.
Madarnas Y, Trudeau M, Franek JA, McCready D, Pritchard KI, Messersmith H. Adjuvant/neoadjuvant trastuzumab therapy in women with HER-2/neu-overexpressing breast cancer: a systematic review. Cancer Treat Rev 2008;34:539-57.
Arteaga CL, Sliwkowski MX, Osborne CK, Perez EA, Puglisi F, Gianni L. Treatment of HER2-positive breast cancer: current status and future perspectives. Nat Rev Clin Oncol 2012;9:16-32.
Baselga J, Swain SM. Novel anticancer targets: revisiting ERBB2 and discovering ERBB3. Nat Rev Cancer 2009;9:463-75.
Iqbal N, Iqbal N. Human epidermal growth factor receptor 2 (HER2) in cancers: overexpression and therapeutic implications. Mol Biol Int 2014;14:1-9.
Chenard MP, Wissler MP, Weingertner N, Mathelin C, Bellocq JP. HER2 gene and protein expression status of breast carcinoma can be reliably tested on a single slide. Virchows Arch 2015;467:169-75.
Wolff AC, Hammond ME, Hicks DG, Dowsett M, McShane LM, Allison KH, et al. Recommendations for human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists clinical practice guideline update. J Clin Oncol 2013;31:3997-4013.
Bird BR, Swain SM. Cardiac toxicity in breast cancer survivors: review of potential cardiac problems. Clin Cancer Res 2008;14:14-24.
Tartari F, Santoni M, Pistelli M, Berardi R. Healthcare cost of HER2-positive and negative breast tumors in the United States (2012-2035). Cancer Treat Rev 2017;60:12-17.
Lee HJ, Seo AN, Kim EJ, Jang MH, Kim YJ, Kim JH. Prognostic and predictive values of EGFR overexpression and EGFR copy number alteration in HER2-positive breast cancer. Br J Cancer 2015;112:103-11.
Ballinger TJ, Sanders ME, Abramson VG. Current HER2 testing recommendations and clinical relevance as a predictor of response to targeted therapy. Clin Breast Cancer 2015;15:171-80.
Malicka-Durczak A, Korski K, Ibbs M. Comparison of in situ hybridization methods for the assessment of HER-2/neu gene amplification status in breast cancer using a tissue microarray. Rep Pract Oncol Radiother 2012;17:44-9.
Bae YK, Gong G, Kang J, Lee A, Cho EY, Lee JS, et al. HER2 status by standardized immunohistochemistry and silver-enhanced in situ hybridization in Korean breast cancer. J Breast Cancer 2012;15:381-7.
Kiyose S, Igarashi H, Nagura K, Kamo T, Kawane K, Mori H. Chromogenic in situ hybridization (CISH) to detect HER2 gene amplification in breast and gastric cancer: comparison with immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH). Pathol Int 2012;62:728-34.
Rosa FE, Santos RM, Rogatto SR, Domingues MA. Chromogenic in situ hybridization compared with other approaches to evaluate HER2/neu status in breast carcinomas. Braz J Med Biol Res 2013;46:207-16.
Press MF, Hung G, Godolphin W, Slamon DJ. Sensitivity of HER-2/neu antibodies in archival tissue samples: potential source of error in immunohistochemical studies of oncogene expression. Cancer Res 1994;54:2771-7.
Jimenez RE, Wallis T, Tabasczka P, Visscher DW. Determination of Her-2/Neu status in breast carcinoma: comparative analysis of immunohistochemistry and fluorescent in situ hybridization. Mod Pathol 2000;13:37-45.
Nitta H, Kelly BD, Allred C, Jewell S, Banks P, Dennis E, et al. The assessment of HER2 status in breast cancer: the past, the present, and the future. Pathol Int 2016;66:313-24.
Hoang MP, Sahin AA, Ordòñez NG, Sneige N. HER-2/neu gene amplification compared with HER-2/neu protein overexpression and interobserver reproducibility in invasive breast carcinoma. Am J Clin Pathol 2000;113:852-9.
Koh YW, Lee HJ, Lee JW, Kang J, Gong G. Dual-color silver-enhanced in situ hybridization for assessing HER2 gene amplification in breast cancer. Mod Pathol 2011;24:794-800.
Nitta H, Kelly BD, Padilla M, Wick N, Brunhoeber P, Bai I. A gene-protein assay for human epidermal growth factor receptor 2 (HER2): brightfield tricolor visualization of HER2 protein, the HER2 gene, and chromosome 17 centromere (CEN17) in formalin-fixed, paraffin-embedded breast cancer tissue sections. Diagn Pathol 2012;60:1-14.
Kurozumi S, Padilla M, Kurosumi M, Matsumoto H, Inoue K, Horiguchi J. HER2 intratumoral heterogeneity analyses by concurrent HER2 gene and protein assessment for the prognosis of HER2 negative invasive breast cancer patients. Breast Cancer Res Treat 2016;158:99-111.
Lim SJ, Cantillep A, Carpenter PM. Validation and workflow optimization of human epidermal growth factor receptor 2 testing using INFORM HER2 dual-color in situ hybridization. Hum Pathol 2013;44:2590-6.
Werner D, Battmann A, Steinmetz K, Jones T, Lamb T, Martinez M. The validation of a novel method combining both HER2 immunohistochemistry and HER2 dual-colour silver in situ hybridization on one slide for gastric carcinoma testing. J Transl Med 2014;160:1-9.
McHugh ML. Interrater reliability: the kappa statistic. Biochem Med (Zagreb) 2012;22:276-82.
Hirschmann A, Lamb TA, Marchal G, Padilla M, Diebold J. Simultaneous analysis of HER2 gene and protein on a single slide facilitates HER2 testing of breast and gastric carcinomas. Am J Clin Pathol 2012;138:837-44.
Li Z, Dabbs DJ, Cooper KL, Bhargava R. Dual HER2 gene protein assay: focused study of breast cancers with 2+ immunohistochemical expression. Am J Clin Pathol 2015;143:451-8.
Stålhammar G, Farrajota P, Olsson A, Silva C, Hartman J, Elmberger G. Gene protein detection platform - a comparison of a new human epidermal growth factor receptor 2 assay with conventional immunohistochemistry and fluorescence in situ hybridization platforms. Ann Diagn Pathol 2015;19:203-10.