Zusammenfassung
Mit Einführung der Gesamtgenomsequenzierung konnte nachgewiesen werden, dass sich innerhalb eines Tumors eine erhebliche genetische Heterogenität zeigt. Dieses Phänomen, welches das Vorkommen unterschiedlicher genetischer Zellklone in einem Tumor beschreibt, erschwert auch die HER2-Diagnostik. In diesem Übersichtsartikel werden neue Erkenntnisse über die Polysomie 17 und die genetische Tumorheterogenität im Zusammenhang mit der HER2-Bestimmung des Mammakarzinoms dargestellt.
Abstract
The introduction of total genome sequencing led to the confirmation that tumors show substantial genetic heterogeneity. This phenomenon, which describes the presence of different genetic cell clones within a tumor also complicates the diagnostics of HER2. This article gives a review of new knowledge on polysomy 17 and genetic tumor heterogeneity in connection with HER2 determination of breast cancer.
This is a preview of subscription content, log in via an institution to check access.
Literatur
Bevers TB, Anderson BO, Bonaccio E et al (2009) NCCN clinical practice guidelines in oncology: breast cancer screening and diagnosis. J Natl Compr Canc Netw 7:1060–1096
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 25:118–145
Hofmann M, Stoss O, Gaiser T et al (2008) Central HER2 IHC and FISH analysis in a trastuzumab (Herceptin) phase II monotherapy study: assessment of test sensitivity and impact of chromosome 17 polysomy. J Clin Pathol 61:89–94
Tse CH, Hwang HC, Goldstein LC et al (2011) Determining true HER2 gene status in breast cancers with polysomy by using alternative chromosome 17 reference genes: implications for anti-HER2 targeted therapy. J Clin Oncol 29:4168–4174
Vanden Bempt I, Van Loo P, Drijkoningen M et al (2008) Polysomy 17 in breast cancer: clinicopathologic significance and impact on HER-2 testing. J Clin Oncol 26:4869–4874
Murthy SS, Sandhya DG, Ahmed F et al (2011) Assessment of HER2/Neu status by fluorescence in situ hybridization in immunohistochemistry-equivocal cases of invasive ductal carcinoma and aberrant signal patterns: a study at a tertiary cancer center. Indian J Pathol Microbiol 54:532–538
Downey L, Livingston RB, Koehler M et al (2010) Chromosome 17 polysomy without human epidermal growth factor receptor 2 amplification does not predict response to lapatinib plus paclitaxel compared with paclitaxel in metastatic breast cancer. Clin Cancer Res 16:1281–1288
Gaiser T, Camps J, Meinhardt S et al (2011) Genome and transcriptome profiles of CD133-positive colorectal cancer cells. Am J Pathol 178:1478–1488
Vance GH, Barry TS, Bloom KJ et al (2009) Genetic heterogeneity in HER2 testing in breast cancer: panel summary and guidelines. Arch Pathol Lab Med 133:611–612
Tubbs RR, Hicks DG, Cook J et al (2007) Fluorescence in situ hybridization (FISH) as primary methodology for the assessment of HER2 Status in adenocarcinoma of the breast: a single institution experience. Diagn Mol Pathol 16:207–210
Bartlett AI, Starcyznski J, Robson T et al (2011) Heterogeneous HER2 gene amplification: impact on patient outcome and a clinically relevant definition. Am J Clin Pathol 136:266–274
Gaiser T, Waha A, Moessler F et al (2009) Comparison of automated silver enhanced in situ hybridization and fluorescence in situ hybridization for evaluation of epidermal growth factor receptor status in human glioblastomas. Mod Pathol 22:1263–1271
Interessenkonflikt
Der korrespondierende Autor weist für sich und seine Koautoren auf folgende Beziehungen hin: TG war und JR ist als Referent für die Firma Roche tätig. Roche ist der Hersteller von Trastuzumab, welcher im Artikel Erwähnung findet.
The supplement this article is part of is not sponsored by the industry.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Gaiser, T., Rüschoff, J. & Moll, R. In-situ-Hybridisierung in der klinischen Pathologie. Pathologe 33 (Suppl 2), 307–310 (2012). https://doi.org/10.1007/s00292-012-1663-z
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00292-012-1663-z