Clinically relevant molecular pathological diagnostics in breast cancer Klinisch relevante molekularpathologische Diagnostik beim Mammakarzinom

Rodepeter FR, Teply-Szymanski J, Romey M, Grass A, Erber R, Lebeau A, Mack EK, Tarawneh TS, Gremke N, Boekhoff J, Wündisch T, Wagner U, Jank P, Denkert C (2023)

Publication Type: Journal article

Publication year: 2023

Journal

Die Pathologie Springer

DOI: 10.1007/s00292-022-01175-0

Abstract

In breast cancer, the current guideline for pathological workup includes recommendations for advanced molecular analysis of certain predictive molecular markers in addition to basic immunohistochemical diagnostics. These markers are determined depending on tumor stage, including sequencing techniques and immunohistochemical methods. This comprises the systematic investigation of molecular alterations such as PIK3CA or BRCA1,2 mutations, NTRK fusions, or microsatellite instability as a basis for targeted therapy. Further alterations, for example in the PI3K pathway, ESR1 alterations, or ERBB2 mutations, may also be relevant for individual therapy decisions especially in the context of resistant or relapsed disease. Thus, particularly in advanced stages, a more comprehensive molecular characterization of the tumor may reveal genetic alterations that act as tumor drivers and provide targets for personalized therapies. Due to the large number of potential molecular targets, NGS panel diagnostics are a suitable approach in this conjunction with immunohistochemical characterization and the individual clinical situation. Molecular based therapeutical strategies outside of entity-specific approvals should be discussed in an interdisciplinary team within the framework of a molecular tumor board.

Authors with CRIS profile

Ramona Erber Institute of Pathology

Involved external institutions

Universitätsklinikum Gießen und Marburg (UKGM) DE Germany (DE) Universitätsklinikum Hamburg-Eppendorf (UKE) DE Germany (DE)

How to cite

APA:

Rodepeter, F.R., Teply-Szymanski, J., Romey, M., Grass, A., Erber, R., Lebeau, A.,... Denkert, C. (2023). Clinically relevant molecular pathological diagnostics in breast cancer Klinisch relevante molekularpathologische Diagnostik beim Mammakarzinom. Die Pathologie. https://doi.org/10.1007/s00292-022-01175-0

MLA:

Rodepeter, Fiona R., et al. "Clinically relevant molecular pathological diagnostics in breast cancer Klinisch relevante molekularpathologische Diagnostik beim Mammakarzinom." Die Pathologie (2023).

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