Silvana Ebner

Intratumoral IDH1 mutation status in intrahepatic cholangiocarcinoma is homogeneous

Sharon Weidmann, Silvana Ebner, Aayushi Srivastava, Armin Wiegering et autres

INTRODUCTION: IDH1 mutations occur in approximately 10%-20% of intrahepatic cholangiocarcinoma (iCCA) and constitute an established target for molecularly guided therapy. As routine molecular diagnostics are commonly based on a single tumour sample, intratumoral heterogeneity could affect the reliable detection of actionable mutations. …

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Malignant Melanoma: Landscape of Molecular Markers

Melanie Winter, Silvana Ebner, Viola Baum, Kati Kiil et autres

Background: In melanoma diagnostics key molecular markers, such as BRAF, NRAS, and KIT mutations also paved the way for targeted therapies. Immunotherapies, including immune checkpoint inhibitors like anti-CTLA-4 and anti-PD-1/PD-L1, have revolutionized treatment, improving survival outcomes for advanced-stage melanoma patients. Despite these …

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Evaluation of an IDH1/2 Mutation FastTrack Assay for Patients with Cholangiocarcinoma

Melanie Winter, Silvana Ebner, Nina Scheuber, Falko Schulze et autres

Background: Cholangiocarcinoma, a malignancy originating from the bile ducts, poses significant treatment challenges due to its typically late diagnosis and limited therapeutic options. However, recent advances in molecular genetics enable more personalized treatment approaches. A notable breakthrough in this context is the …

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Implementation of Valid HPV Diagnostics for the Early Detection of Cervical Cancer in Molecular Pathology: HPV 3.5 LCD-Array (Chipron GmbH) vs. PapilloCheck® (Greiner Bio-One GmbH) vs. VisionArray® (ZytoVision GmbH)

Jan Jeroch, Melanie Winter, Anna Bieber, Christina Schmitt et autres

The occurrence of cervical cancer is often linked to a previous infection with a human papillomavirus (HPV). In order to detect HPV infections in cervical smears, a broad range of tests can be used. This study compares the two hybridisation-based DNA-microarray systems …

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Feasibility of Next-generation Sequencing of Liquid Biopsy (Circulating Tumor DNA) Samples and Tumor Tissue from Patients with Metastatic Prostate Cancer in a Real-world Clinical Setting in Germany

Philipp C. Mandel, Benedikt Hoeh, Clara Humke, Claudia Döering et autres

BACKGROUND AND OBJECTIVE: With European Medicines Agency approval of PARP inhibitors in metastatic castration-resistant prostate cancer and ongoing trials in metastatic hormone-sensitive prostate cancer, detection of genetic alterations in BRCA1/2 and other homologous recombination repair genes has gained an important role. Our …

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Heterogeneity of small duct‐ and large duct‐type intrahepatic cholangiocarcinoma

Maximilian N. Kinzler, Falko Schulze, Jan Jeroch, Christina Schmitt et autres

AIMS: The histological subtype of intrahepatic cholangiocarcinoma (iCCA) is associated with different mutational characteristics that impact clinical management. So far, data are lacking on the presence of small duct iCCA (SD-iCCA) and large duct iCCA (LD-iCCA) in a single patient. The aim …

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A Comparison of Two Different FFPE Tissue Dissection Methods for Routine Diagnostics in Molecular Pathology: Manual Macrodissection versus Automated Microdissection Using the Roche “AVENIO Millisect” System

Jan Jeroch, Tobias Riedlinger, Christina Schmitt, Silvana Ebner et autres

Currently, in routine diagnostics, most molecular testing is performed on formalin-fixed, paraffin-embedded tissue after a histomorphological assessment. In order to find the best possible and targeted individual therapy, knowing the mutational status of the tumour is crucial. The "AVENIO Millisect" system Roche …

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Addendum: Sequencing of BRCA1/2-alterations using NGS-based technology: annotation as a challenge

Silvana Ebner, Ria Winkelmann, Saskia Martin, Jens W. Köllermann et autres

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Sequencing of BRCA1/2-alterations using NGS-based technology: annotation as a challenge

Silvana Ebner, Ria Winkelmann, Saskia Martin, Jens W. Köllermann et autres

// Silvana Ebner 1 , Ria Winkelmann 1 , Saskia Martin 1 , Jens Köllermann 1 , Peter J. Wild 1 , 2 and Melanie Demes 1 , 2 1 Dr. Senckenberg Institute of Pathology, University Hospital Frankfurt, Frankfurt am Main, Germany …

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