Klinisch relevante molekularpathologische Diagnostik beim Mammakarzinom

Rodepeter, Fiona; Teply-Szymanski, Julia; Romey, Marcel; Grass, Albert; Erber, Ramona; Lebeau, Annette; Mack, Elisabeth; Tarawneh, Thomas S.; Gremke, Niklas; Boekhoff, Jelena; Wündisch, Thomas; Wagner, Uwe; Jank, Paul; Denkert, Carsten

doi:10.1007/s00292-022-01175-0

Cited by 3 publications

(12 citation statements)

References 39 publications

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“…The assessment of the predictive markers is mandatory in breast cancer diagnostics, as it allows tailoring specific adjuvant or neoadjuvant systemic therapies or targeted therapies in metastatic settings [ 10 – 13 ]. Established markers are hormone receptors (ER, PR), Her2 status, and proliferation index via Ki67 labelling, which must be determined in all newly diagnosed breast cancer and should be retested in recurring or metastatic lesions, if tissue availability is given [ 12 , 43 , 44 ]. Furthermore, the evidence of sequencing-based further alterations such as PIK3CA pathway, BRCA1/2 mutations, NTRK fusions, microsatellite instability (MSI), or mutations on ESR1 or ERBB2 genes are important tools to tailor targeted individual therapies [ 1 , 10 , 12 , 39 , 43 – 45 ].…”

Section: Molecular Testing As Prognostic and Predictive Tool In Breas...mentioning

confidence: 99%

“…Both ER and PR must be tested on each primary breast carcinoma and should be re-assessed on any recurring/metastatic lesions if tissue is available for testing, as differences in expression profile can occur in up to 50% of cases [ 10 , 12 , 43 , 44 ]. Positive ER status is a pre-requisite for an endocrine therapy (e.g., aromatase inhibitors or selective estrogen receptor modulators) and is associated with a favorable prognosis [ 10 – 12 , 44 ]. If PR is positive as well, these tumors, classified as luminal-A tumors, show a favorable outcome [ 10 – 12 ].…”

Section: Hormone Receptors (Estrogen Er Progesteron Pr)mentioning

confidence: 99%

“…Her2 status is another mandatory marker, which must be tested on each primary breast carcinoma and should be re-assessed on any recurring/metastatic lesions if tissue is available for testing. Differences in Her2 status are less frequent; however, also up to 30% immunohistochemical or ISH results can change during the disease course, possibly through clonal differentiation or clonal resistance to established therapies administered to the primary tumor [ 10 – 12 , 43 , 44 , 46 ].…”

Section: Her2 Status Including Her2 Low and Her2 Mutation Statusmentioning

confidence: 99%

“…Routine Her2 testing methods are immunohistochemistry alone with complementary ISH probes or ISH probes for Her2 alone. Both approaches are approved by ASCO/CAP guidelines [ 10 – 12 , 43 , 44 , 46 ]. A positive Her2 status, making the patient eligible for anti-Her2 therapy, requires an immunohistochemical score 3+ or an amplification of the ERBB2 gene in ISH irrespectively of the IHC result [ 44 ].…”

Section: Her2 Status Including Her2 Low and Her2 Mutation Statusmentioning

confidence: 99%

“…Both approaches are approved by ASCO/CAP guidelines [ 10 – 12 , 43 , 44 , 46 ]. A positive Her2 status, making the patient eligible for anti-Her2 therapy, requires an immunohistochemical score 3+ or an amplification of the ERBB2 gene in ISH irrespectively of the IHC result [ 44 ]. Approximately 10–15% of BC are Her2 positive [ 10 , 44 , 47 , 48 ].…”

Section: Her2 Status Including Her2 Low and Her2 Mutation Statusmentioning

confidence: 99%

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Molecular pathology in breast disease: diagnostic, prognostic, and therapeutic tools

Varga,

Maccio

2023

Virchows Arch

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Molecular testing in breast cancer gained increasing attention and importance as specific molecular results can tailor not only oncological decisions on systemic adjuvant or neoadjuvant or in metastatic setting, but increasingly serve in diagnostic routine histopathological services to differentiate between morphologically overlapping or ambiguous histological pictures. Diagnostic tools involve in most cases a broad spectrum of immunohistochemical panels, followed by entity-specific in situ hybridization probes and in given cases NGS-based sequencing. Workflow of which methodology is applied and in which order depends on the specific entity resp. on the given differential diagnosis in question. Regarding prognostic/predictive molecular testing, the choice of assay and the workflow are based on clinical algorithms and on the evidence of targeted therapies following the molecular alterations. In this review paper, we aim to address the use of molecular technics in [1] the histological diagnostic setting (such as subtyping of invasive carcinomas/malignant spindle cell tumors and sarcomas and some B3 lesions) and [2] in the context of adjuvant or neoadjuvant or other clinical settings with special focus of targeted therapies.

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Section: Molecular Testing As Prognostic and Predictive Tool In Breas...mentioning

confidence: 99%

Section: Hormone Receptors (Estrogen Er Progesteron Pr)mentioning

confidence: 99%

Section: Her2 Status Including Her2 Low and Her2 Mutation Statusmentioning

confidence: 99%

Section: Her2 Status Including Her2 Low and Her2 Mutation Statusmentioning

confidence: 99%

Section: Her2 Status Including Her2 Low and Her2 Mutation Statusmentioning

confidence: 99%

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Molecular pathology in breast disease: diagnostic, prognostic, and therapeutic tools

Varga,

Maccio

2023

Virchows Arch

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Molekulare Pathologie bei Brustkrankheiten: diagnostische, prognostische und therapeutische Instrumente

Varga,

Maccio

2024

Kompass Onkol

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Molekulare Tests bei Brustkrebs haben zunehmend an Aufmerksamkeit und Bedeutung gewonnen, da spezifische molekulare Ergebnisse nicht nur onkologische Entscheidungen zum systemischen adjuvanten oder neoadjuvanten Setting oder zum metastasierten Setting mitbestimmen können, sondern zunehmend in diagnostischen histopathologischen Routinediensten zur Unterscheidung zwischen morphologisch überlappenden oder mehrdeutigen histologischen Bildern dienen. Die Diagnosewerkzeuge umfassen in den meisten Fällen ein breites Spektrum an immunhistochemischen Panels, gefolgt von entitätsspezifischen In-situ-Hybridisierungssonden und, in bestimmten Fällen, von Next-Generation-Sequenzierung. Der Ablauf, welche Methodik angewandt wird und in welcher Reihenfolge, hängt von der spezifischen Entität bzw. von der jeweiligen Differenzialdiagnose ab. In Bezug auf prognostische/prädiktive molekulare Tests basieren die Auswahl des Assays und der Arbeitsablauf auf klinischen Algorithmen und auf dem Nachweis gezielter Therapien je nach den molekularen Veränderungen. In dieser Übersichtsarbeit möchten wir den Einsatz molekularer Techniken 1) im histologischen diagnostischen Setting (wie Subtypisierung von invasiven Karzinomen/malignen Spindelzelltumoren und Sarkomen und einigen B3-Läsionen) und 2) im Zusammenhang mit adjuvanten, neoadjuvanten oder anderen klinischen Settings mit besonderem Schwerpunkt auf gezielten Therapien ansprechen.

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NGS-Guided Precision Oncology in Breast Cancer and Gynecological Tumors—A Retrospective Molecular Tumor Board Analysis

Gremke,

Rodepeter,

Teply-Szymanski

et al. 2024

Cancers

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Background: Precision oncology treatments are being applied more commonly in breast and gynecological oncology through the implementation of Molecular Tumor Boards (MTBs), but real-world clinical outcome data remain limited. Methods: A retrospective analysis was conducted in patients with breast cancer (BC) and gynecological malignancies referred to our center’s MTB from 2018 to 2023. The analysis covered patient characteristics, next-generation sequencing (NGS) results, MTB recommendations, therapy received, and clinical outcomes. Results: Sixty-three patients (77.8%) had metastatic disease, and forty-four patients (54.3%) had previously undergone three or more lines of systemic treatment. Personalized treatment recommendations were provided to 50 patients (63.3%), while 29 (36.7%) had no actionable target. Ultimately, 23 patients (29.1%) underwent molecular-matched treatment (MMT). Commonly altered genes in patients with pan-gyn tumors (BC and gynecological malignancies) included TP53 (n = 42/81, 51.9%), PIK3CA (n = 18/81, 22.2%), BRCA1/2 (n = 10/81, 12.3%), and ARID1A (n = 9/81, 11.1%). Patients treated with MMT showed significantly prolonged progression-free survival (median PFS 5.5 vs. 3.5 months, p = 0.0014). Of all patients who underwent molecular profiling, 13.6% experienced a major clinical benefit (PFSr ≥ 1.3 and PR/SD ≥ 6 months) through precision oncology. Conclusions: NGS-guided precision oncology demonstrated improved clinical outcomes in a subgroup of patients with gynecological and breast cancers.

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Klinisch relevante molekularpathologische Diagnostik beim Mammakarzinom

Cited by 3 publications

References 39 publications

Molecular pathology in breast disease: diagnostic, prognostic, and therapeutic tools

Molecular pathology in breast disease: diagnostic, prognostic, and therapeutic tools

Molekulare Pathologie bei Brustkrankheiten: diagnostische, prognostische und therapeutische Instrumente

NGS-Guided Precision Oncology in Breast Cancer and Gynecological Tumors—A Retrospective Molecular Tumor Board Analysis

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