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Erschienen in: Der Pathologe 1/2021

21.12.2020 | Schwerpunkt: In-situ-Hybridisierung

ISH-based HER2 diagnostics

verfasst von: Prof. Dr. Josef Rüschoff, Iris Nagelmeier, Bharat Jasani, Oliver Stoss

Erschienen in: Der Pathologe | Sonderheft 1/2021

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Abstract

A prerequisite for all HER2 directed therapies is the demonstration of HER2 receptor protein overexpression and/or gene amplification by in situ hybridization (ISH). ASCO and CAP have published several HER2 test guidelines over the past 15 years for both breast and gastric cancer. The latest version for breast cancer (2018) focuses on special issues of ISH related to the definitions of special diagnostic groups (1–5). The guidelines for gastroesophageal adenocarcinoma (2017), essentially based on ToGA trial data, are now also being used for other tumors such as pancreas, gallbladder, and non-small-cell lung cancer. For colorectal cancer, a modified testing procedure has been proposed. Recently, besides overexpression and amplification, a third type of HER gene alteration, namely mutation, has gained much interest. Next-generation sequencing (NGS) allows detection of both amplification and mutation of the HER2 gene providing new options of therapy especially in the case of activating mutations.
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Literatur
2.
Zurück zum Zitat Dietel M, Ellis IO, Höfler H et al (2007) Comparison of automated silver enhanced in situ hybridisation (SISH) and fluorescence ISH (FISH) for the validation of HER2 gene status in breast carcinoma according to the guidelines of the American Society of Clinical Oncology and the College of American Pathologists. Virchows Arch 451(1):19–25 CrossRef Dietel M, Ellis IO, Höfler H et al (2007) Comparison of automated silver enhanced in situ hybridisation (SISH) and fluorescence ISH (FISH) for the validation of HER2 gene status in breast carcinoma according to the guidelines of the American Society of Clinical Oncology and the College of American Pathologists. Virchows Arch 451(1):19–25 CrossRef
3.
Zurück zum Zitat Papouchado BG, Myles J, Lloyd RV et al (2010) Silver in situ hybridization (SISH) for determination of HER2 gene status in breast carcinoma: comparison with FISH and assessment of interobserver reproducibility. Am J Surg Pathol 34(6):767–776 CrossRef Papouchado BG, Myles J, Lloyd RV et al (2010) Silver in situ hybridization (SISH) for determination of HER2 gene status in breast carcinoma: comparison with FISH and assessment of interobserver reproducibility. Am J Surg Pathol 34(6):767–776 CrossRef
4.
Zurück zum Zitat Meric-Bernstam F, Johnson AM, Dumbrava EEI et al (2019) Advances in HER2-targeted therapy: novel agents and opportunities beyond breast and gastric cancer. Clin Cancer Res 25(7):2033–2041 CrossRef Meric-Bernstam F, Johnson AM, Dumbrava EEI et al (2019) Advances in HER2-targeted therapy: novel agents and opportunities beyond breast and gastric cancer. Clin Cancer Res 25(7):2033–2041 CrossRef
5.
Zurück zum Zitat Subramanian J et al (2019) Emergence of ERBB2 mutation as a biomarker and an actionable target in solid cancers. Oncologist 24:1–12 CrossRef Subramanian J et al (2019) Emergence of ERBB2 mutation as a biomarker and an actionable target in solid cancers. Oncologist 24:1–12 CrossRef
6.
Zurück zum Zitat Wolff AC, Hammond ME, Schwartz JN et al (2007) American Society of Clinical Oncology/College of American Pathologists guideline recommendations for human epidermal growth factor receptor 2 testing in breast cancer. J Clin Oncol 25(1):118–145 CrossRef Wolff AC, Hammond ME, Schwartz JN et al (2007) American Society of Clinical Oncology/College of American Pathologists guideline recommendations for human epidermal growth factor receptor 2 testing in breast cancer. J Clin Oncol 25(1):118–145 CrossRef
7.
Zurück zum Zitat Wolff AC, Hammond ME, Hicks DG et al (2013) 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 31(31):3997–4013 CrossRef Wolff AC, Hammond ME, Hicks DG et al (2013) 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 31(31):3997–4013 CrossRef
8.
Zurück zum Zitat Wolff AC, Hammond MEH, Allison KH et al (2018) Human Epidermal Growth Factor Receptor 2 Testing in Breast Cancer: American Society of Clinical Oncology/College of American Pathologists Clinical Practice Guideline Focused Update. J Clin Oncol 36(20):2105–2122 CrossRef Wolff AC, Hammond MEH, Allison KH et al (2018) Human Epidermal Growth Factor Receptor 2 Testing in Breast Cancer: American Society of Clinical Oncology/College of American Pathologists Clinical Practice Guideline Focused Update. J Clin Oncol 36(20):2105–2122 CrossRef
9.
Zurück zum Zitat Sauter G, Lee J, Bartlett JM, Slamon DJ, Press MF (2009) Guidelines for human epidermal growth factor receptor 2 testing: biologic and methodologic considerations. J Clin Oncol 27(8):1323–1333 CrossRef Sauter G, Lee J, Bartlett JM, Slamon DJ, Press MF (2009) Guidelines for human epidermal growth factor receptor 2 testing: biologic and methodologic considerations. J Clin Oncol 27(8):1323–1333 CrossRef
10.
Zurück zum Zitat Panigrahi MK, Kumar D, Mehta A, Saikia KK (2017) Outcome of HER2 Testing by FISH applying ASCO/CAP 2007 and 2013 guideline in IHC equivocal group of breast cancer: experience at tertiary cancer care centre. South Asian J Cancer 6(2):45–46 CrossRef Panigrahi MK, Kumar D, Mehta A, Saikia KK (2017) Outcome of HER2 Testing by FISH applying ASCO/CAP 2007 and 2013 guideline in IHC equivocal group of breast cancer: experience at tertiary cancer care centre. South Asian J Cancer 6(2):45–46 CrossRef
11.
Zurück zum Zitat Tchrakian N, Flanagan L, Harford J, Gannon JM, Quinn CM (2016) New ASCO/CAP guideline recommendations for HER2 testing increase the proportion of reflex in situ hybridization tests and of HER2 positive breast cancers. Virchows Arch 468(2):207–211 CrossRef Tchrakian N, Flanagan L, Harford J, Gannon JM, Quinn CM (2016) New ASCO/CAP guideline recommendations for HER2 testing increase the proportion of reflex in situ hybridization tests and of HER2 positive breast cancers. Virchows Arch 468(2):207–211 CrossRef
12.
Zurück zum Zitat Tarantino P, Hamilton E, Tolaney SM et al (2020) HER2-low breast cancer: pathological and clinical landscape. J Clin Oncol 38(17):1951–1962 CrossRef Tarantino P, Hamilton E, Tolaney SM et al (2020) HER2-low breast cancer: pathological and clinical landscape. J Clin Oncol 38(17):1951–1962 CrossRef
14.
Zurück zum Zitat Lebeau A, Denkert C, Sinn P, Schmidt M, Wöckel A (2019) Update der S3-Leitlinie Mammakarzinom: Was gibt es Neues für Pathologen? Pathologe 40(2):185–198 CrossRef Lebeau A, Denkert C, Sinn P, Schmidt M, Wöckel A (2019) Update der S3-Leitlinie Mammakarzinom: Was gibt es Neues für Pathologen? Pathologe 40(2):185–198 CrossRef
15.
Zurück zum Zitat Stoss OC, Scheel A, Nagelmeier I et al (2015) Impact of updated HER2 testing guidelines in breast cancer—re-evaluation of HERA trial fluorescence in situ hybridization data. Mod Pathol 28(12):1528–1534 CrossRef Stoss OC, Scheel A, Nagelmeier I et al (2015) Impact of updated HER2 testing guidelines in breast cancer—re-evaluation of HERA trial fluorescence in situ hybridization data. Mod Pathol 28(12):1528–1534 CrossRef
16.
Zurück zum Zitat Bartley AN, Washington MK, Colasacco C et al (2017) HER2 testing and clinical decision making in gastroesophageal adenocarcinoma: guideline from the College of American Pathologists, American Society for Clinical Pathology, and the American Society of Clinical Oncology. J Clin Oncol 35(4):446–464 CrossRef Bartley AN, Washington MK, Colasacco C et al (2017) HER2 testing and clinical decision making in gastroesophageal adenocarcinoma: guideline from the College of American Pathologists, American Society for Clinical Pathology, and the American Society of Clinical Oncology. J Clin Oncol 35(4):446–464 CrossRef
17.
Zurück zum Zitat Bang YJ, Van Cutsem E, Feyereislova A et al (2010) Trastuzumab in combination with chemotherapy versus chemotherapy alone for treatment of HER2-positive advanced gastric or gastro-oesophageal junction cancer (ToGA): a phase 3, open-label, randomised controlled trial [published correction appears in Lancet. 2010 Oct 16;376(9749):1302]. Lancet 376(9742):687–697 CrossRef Bang YJ, Van Cutsem E, Feyereislova A et al (2010) Trastuzumab in combination with chemotherapy versus chemotherapy alone for treatment of HER2-positive advanced gastric or gastro-oesophageal junction cancer (ToGA): a phase 3, open-label, randomised controlled trial [published correction appears in Lancet. 2010 Oct 16;376(9749):1302]. Lancet 376(9742):687–697 CrossRef
18.
Zurück zum Zitat Hofmann M, Stoss O, Shi D et al (2008) Assessment of a HER2 scoring system for gastric cancer: results from a validation study. Histopathology 52(7):797–805 CrossRef Hofmann M, Stoss O, Shi D et al (2008) Assessment of a HER2 scoring system for gastric cancer: results from a validation study. Histopathology 52(7):797–805 CrossRef
19.
Zurück zum Zitat Rüschoff J, Hanna W, Bilous M et al (2012) HER2 testing in gastric cancer: a practical approach. Mod Pathol 25(5):637–650 CrossRef Rüschoff J, Hanna W, Bilous M et al (2012) HER2 testing in gastric cancer: a practical approach. Mod Pathol 25(5):637–650 CrossRef
20.
Zurück zum Zitat Baretton G, Dietel M, Gaiser T et al (2016) HER2-Testung beim Magenkarzinom : Ergebnisse eines deutschen Expertentreffens [HER2 testing in gastric cancer : results of a meeting of German experts]. Pathologe 37(4):361–366 CrossRef Baretton G, Dietel M, Gaiser T et al (2016) HER2-Testung beim Magenkarzinom : Ergebnisse eines deutschen Expertentreffens [HER2 testing in gastric cancer : results of a meeting of German experts]. Pathologe 37(4):361–366 CrossRef
21.
Zurück zum Zitat Baretton G, Kreipe HH, Schirmacher P et al (2019) HER2 testing in gastric cancer diagnosis: insights on variables influencing HER2-positivity from a large, multicenter, observational study in Germany. Virchows Arch 474(5):551–560 CrossRef Baretton G, Kreipe HH, Schirmacher P et al (2019) HER2 testing in gastric cancer diagnosis: insights on variables influencing HER2-positivity from a large, multicenter, observational study in Germany. Virchows Arch 474(5):551–560 CrossRef
22.
Zurück zum Zitat Scheel AH, Penault-Llorca F, Hanna W et al (2018) Physical basis of the ‘magnification rule’ for standardized Immunohistochemical scoring of HER2 in breast and gastric cancer. Diagn Pathol 13(1):19 CrossRef Scheel AH, Penault-Llorca F, Hanna W et al (2018) Physical basis of the ‘magnification rule’ for standardized Immunohistochemical scoring of HER2 in breast and gastric cancer. Diagn Pathol 13(1):19 CrossRef
23.
Zurück zum Zitat Van Cutsem E, Bang YJ, Feng-Yi F et al (2015) HER2 screening data from ToGA: targeting HER2 in gastric and gastroesophageal junction cancer. Gastric Cancer 18(3):476–484 CrossRef Van Cutsem E, Bang YJ, Feng-Yi F et al (2015) HER2 screening data from ToGA: targeting HER2 in gastric and gastroesophageal junction cancer. Gastric Cancer 18(3):476–484 CrossRef
24.
Zurück zum Zitat Tabernero J, Hoff PM, Shen L et al (2018) Pertuzumab plus trastuzumab and chemotherapy for HER2-positive metastatic gastric or gastro-oesophageal junction cancer (JACOB): final analysis of a double-blind, randomised, placebo-controlled phase 3 study. Lancet Oncol 19(10):1372–1384 CrossRef Tabernero J, Hoff PM, Shen L et al (2018) Pertuzumab plus trastuzumab and chemotherapy for HER2-positive metastatic gastric or gastro-oesophageal junction cancer (JACOB): final analysis of a double-blind, randomised, placebo-controlled phase 3 study. Lancet Oncol 19(10):1372–1384 CrossRef
25.
Zurück zum Zitat Shah MA, Kang YK, Thuss-Patience PC et al (2019) Biomarker analysis of the GATSBY study of trastuzumab emtansine versus a taxane in previously treated HER2-positive advanced gastric/gastroesophageal junction cancer. Gastric Cancer 22(4):803–816 CrossRef Shah MA, Kang YK, Thuss-Patience PC et al (2019) Biomarker analysis of the GATSBY study of trastuzumab emtansine versus a taxane in previously treated HER2-positive advanced gastric/gastroesophageal junction cancer. Gastric Cancer 22(4):803–816 CrossRef
26.
Zurück zum Zitat Lee HS, Kim WH, Kwak Y et al (2017) Molecular testing for gastrointestinal cancer. J Pathol Transl Med 51(2):103–121 CrossRef Lee HS, Kim WH, Kwak Y et al (2017) Molecular testing for gastrointestinal cancer. J Pathol Transl Med 51(2):103–121 CrossRef
27.
Zurück zum Zitat Li X, Zhao H, Gu J, Zheng L (2016) Prognostic role of HER2 amplification based on fluorescence in situ hybridization (FISH) in pancreatic ductal adenocarcinoma (PDAC): a meta-analysis. World J Surg Oncol 14(1):38 CrossRef Li X, Zhao H, Gu J, Zheng L (2016) Prognostic role of HER2 amplification based on fluorescence in situ hybridization (FISH) in pancreatic ductal adenocarcinoma (PDAC): a meta-analysis. World J Surg Oncol 14(1):38 CrossRef
28.
Zurück zum Zitat Sartore-Bianchi A, Trusolino L, Martino C et al (2016) Dual-targeted therapy with trastuzumab and lapatinib in treatment-refractory, KRAS codon 12/13 wild-type, HER2-positive metastatic colorectal cancer (HERACLES): a proof-of-concept, multicentre, open-label, phase 2 trial [published correction appears in Lancet Oncol. 2016 Oct;17 (10 ):e420]. Lancet Oncol 17(6):738–746 CrossRef Sartore-Bianchi A, Trusolino L, Martino C et al (2016) Dual-targeted therapy with trastuzumab and lapatinib in treatment-refractory, KRAS codon 12/13 wild-type, HER2-positive metastatic colorectal cancer (HERACLES): a proof-of-concept, multicentre, open-label, phase 2 trial [published correction appears in Lancet Oncol. 2016 Oct;17 (10 ):e420]. Lancet Oncol 17(6):738–746 CrossRef
29.
Zurück zum Zitat Valtorta E, Martino C, Sartore-Bianchi A et al (2015) Assessment of a HER2 scoring system for colorectal cancer: results from a validation study. Mod Pathol 28(11):1481–1491 CrossRef Valtorta E, Martino C, Sartore-Bianchi A et al (2015) Assessment of a HER2 scoring system for colorectal cancer: results from a validation study. Mod Pathol 28(11):1481–1491 CrossRef
30.
Zurück zum Zitat Richman SD, Southward K, Chambers P et al (2016) HER2 overexpression and amplification as a potential therapeutic target in colorectal cancer: analysis of 3256 patients enrolled in the QUASAR, FOCUS and PICCOLO colorectal cancer trials. J Pathol 238(4):562–570 CrossRef Richman SD, Southward K, Chambers P et al (2016) HER2 overexpression and amplification as a potential therapeutic target in colorectal cancer: analysis of 3256 patients enrolled in the QUASAR, FOCUS and PICCOLO colorectal cancer trials. J Pathol 238(4):562–570 CrossRef
31.
Zurück zum Zitat Yoshida H, Shimada K, Kosuge T, Hiraoka N (2016) A significant subgroup of resectable gallbladder cancer patients has an HER2 positive status. Virchows Arch 468(4):431–439 CrossRef Yoshida H, Shimada K, Kosuge T, Hiraoka N (2016) A significant subgroup of resectable gallbladder cancer patients has an HER2 positive status. Virchows Arch 468(4):431–439 CrossRef
32.
Zurück zum Zitat Elebro J, Heby M, Warfvinge CF, Nodin B, Eberhard J, Jirström K (2016) Expression and prognostic significance of human epidermal growth factor receptors 1, 2 and 3 in periampullary adenocarcinoma. Plos One 11(4):e153533 CrossRef Elebro J, Heby M, Warfvinge CF, Nodin B, Eberhard J, Jirström K (2016) Expression and prognostic significance of human epidermal growth factor receptors 1, 2 and 3 in periampullary adenocarcinoma. Plos One 11(4):e153533 CrossRef
33.
Zurück zum Zitat Galdy S, Lamarca A, McNamara MG et al (2017) HER2/HER3 pathway in biliary tract malignancies; systematic review and meta-analysis: a potential therapeutic target? Cancer Metastasis Rev 36(1):141–157 CrossRef Galdy S, Lamarca A, McNamara MG et al (2017) HER2/HER3 pathway in biliary tract malignancies; systematic review and meta-analysis: a potential therapeutic target? Cancer Metastasis Rev 36(1):141–157 CrossRef
34.
Zurück zum Zitat Hotta K, Yanai H, Ohashi K et al (2020) Pilot evaluation of a HER2 testing in non-small-cell lung cancer. J Clin Pathol 73(6):353–357 CrossRef Hotta K, Yanai H, Ohashi K et al (2020) Pilot evaluation of a HER2 testing in non-small-cell lung cancer. J Clin Pathol 73(6):353–357 CrossRef
35.
Zurück zum Zitat Madison RW, Gupta SV, Elamin YY et al (2020) Urothelial cancer harbours EGFR and HER2 amplifications and exon 20 insertions. BJU Int 125(5):739–746 CrossRef Madison RW, Gupta SV, Elamin YY et al (2020) Urothelial cancer harbours EGFR and HER2 amplifications and exon 20 insertions. BJU Int 125(5):739–746 CrossRef
37.
Zurück zum Zitat AACR Project GENIE Consortium (2017) AACR project GENIE: powering precision medicine through an international consortium. Cancer Discov 7(8):818–831 CrossRef AACR Project GENIE Consortium (2017) AACR project GENIE: powering precision medicine through an international consortium. Cancer Discov 7(8):818–831 CrossRef
Metadaten
Titel
ISH-based HER2 diagnostics
verfasst von
Prof. Dr. Josef Rüschoff
Iris Nagelmeier
Bharat Jasani
Oliver Stoss
Publikationsdatum
21.12.2020
Verlag
Springer Medizin
Erschienen in
Der Pathologe / Ausgabe Sonderheft 1/2021
Print ISSN: 2731-7188
Elektronische ISSN: 2731-7196
DOI
https://doi.org/10.1007/s00292-020-00878-6

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