A5038159102- Histone Deacetylase Inhibitors Research
- Protein Degradation and Inhibitors
- Peptidase Inhibition and Analysis
- Cancer Genomics and Diagnostics
- Cancer Mechanisms and Therapy
- Cancer-related gene regulation
- Computational Drug Discovery Methods
- Genetic factors in colorectal cancer
- Lung Cancer Treatments and Mutations
- Sarcoma Diagnosis and Treatment
- Ubiquitin and proteasome pathways
- RNA modifications and cancer
- Colorectal Cancer Treatments and Studies
- Alkaline Phosphatase Research Studies
- Epigenetics and DNA Methylation
- Genomics and Chromatin Dynamics
- Cancer-related Molecular Pathways
- Cancer and Skin Lesions
- Health Systems, Economic Evaluations, Quality of Life
- RNA Research and Splicing
- Genetic Associations and Epidemiology
- Economic and Financial Impacts of Cancer
- Ear and Head Tumors
- Genomics and Rare Diseases
- Colorectal Cancer Screening and Detection
Universitätsklinikum Erlangen
2020-2025
Friedrich-Alexander-Universität Erlangen-Nürnberg
2020-2025
Comprehensive Cancer Center Erlangen
2021-2025
Ludwig Cancer Research
2010-2023
Olivia Newton-John Cancer Wellness & Research Centre
2014-2023
La Trobe University
2016-2023
Weatherford College
2023
Ludwig Cancer Research
2014
Austin Health
2014
Ludwig Cancer Research
2010
Atypical EGFR mutations occur in 10%-30% of non-small-cell lung cancer (NSCLC) patients with and their sensitivity to classical epidermal growth factor receptor (EGFR)-tyrosine kinase inhibitors (TKI) is highly heterogeneous. Patients harboring one group uncommon, recurrent (G719X, S768I, L861Q) respond EGFR-TKI. Exon 20 insertions are mostly insensitive EGFR-TKI but display exon inhibitors. Clinical outcome data very rare point compound upon systemic treatments still sparse date.In this...
Abstract Histone deacetylase inhibitors (HDACi) induce growth arrest and apoptosis in colon cancer cells are being considered for therapy. The underlying mechanism of action these effects is poorly defined with both transcription-dependent -independent mechanisms implicated. We screened a panel 30 cell lines sensitivity to HDACi-induced correlated the differences gene expression patterns induced by HDACi five most sensitive resistant lines. A robust reproducible transcriptional response...
Inhibitors of the bromodomain and extraterminal domain (BET) protein family attenuate proliferation several tumor cell lines. These effects are mediated, at least in part, through repression c-MYC. In colorectal cancer, overexpression c-MYC due to hyperactive WNT/β-catenin/TCF signaling is a key driver progression; however, effective strategies target this oncogene remain elusive. Here, we investigated effect BET inhibitors (BETi) on cancer expression. Treatment 20 lines with BETi JQ1...
Abstract With the increasing use of innovative next generation sequencing (NGS) platforms in routine diagnostic and research settings, genetic landscape uterine sarcomas has been dynamically evolving during last two decades. Notably, majority recently recognized genotypes represent gene fusions, while recurrent oncogene mutations and/ or therapeutic value have rare. Recently, a distinctive aggressive sarcoma expressing S100 SOX10, but otherwise lacking morphological, immunophenotypic...
The identification of the specific DC subsets providing a critical role in presenting influenza antigens to naïve T cell precursors remains contentious and under considerable debate. Here we show that CD8+ lymphocyte (TCD8+) responses are severely hampered C57BL/6 mice deficient transcription factor Batf3 after intranasal challenge with A virus (IAV). This is required for development lymph node resident migratory CD103+CD11b− DCs found both these subtypes could efficiently stimulate anti-IAV...
Abstract Histone deacetylase 3 ( Hdac3 ) regulates the expression of lipid metabolism genes in multiple tissues, however its role regulating intestinal epithelium is unknown. Here we demonstrate that intestine-specific deletion IKO protects mice from diet induced obesity. Intestinal epithelial cells (IECs) display co-ordinate induction and proteins involved mitochondrial peroxisomal β-oxidation, have an increased rate fatty acid oxidation, undergo marked remodelling their lipidome,...
Abstract Purpose: Histone deacetylase inhibitors (HDACi) are epigenome-targeting small molecules approved for the treatment of cutaneous T-cell lymphoma and multiple myeloma. They have also demonstrated clinical activity in acute myelogenous leukemia, non–small cell lung cancer, estrogen receptor–positive breast trials underway assessing their combination regimens including immunotherapy. However, there is currently no clear strategy to reliably predict HDACi sensitivity. In colon cancer...
Abstract Gene fusions involving the NUTM1 gene ( NUT ) represent defining genetic markers of a highly aggressive carcinoma type with predilection for midline structures children and young adults, hence original description as carcinoma. Recent studies have increasingly documented involvement in pathogenesis other entities well. We herein describe two cases auditory canal carcinomas features porocarcinoma, both harboring newly described YAP1-NUTM1 fusion. Patients were males aged 28 82 years...
In non-small cell lung cancer (NSCLC), approximately 1-3% of cases harbor an increased gene copy number (GCN) the MET gene. This alteration can be due to de novo amplification or represent a secondary resistance mechanism in response targeted therapies. To date, gold standard method evaluate GCN is fluorescence situ hybridization (FISH). However, next-generation sequencing (NGS) becoming more relevant optimize therapy by revealing mutational profile each NSCLC. Using evaluable n = 205 NSCLC...
Ectopic Cushing syndrome is a rare clinical disorder resulting from excessive adrenocorticotrophic hormone (ACTH) produced by non-pituitary neoplasms, mainly neuroendocrine neoplasms (NENs) of the lung, pancreas, and gastrointestinal tract, other less common sites. The genetic background ACTH-producing NENs has not been well studied. Inspired an index case pancreatic NEN carrying gene fusion, we postulated that might be enriched for fusions. We herein examined 21 ACTH-secreting pancreas...
Missense point mutations in the TP53 gene are frequent genetic alterations human tumor tissue and cell lines derived thereof. Mutant p53 (mutp53) proteins have lost sequence-specific DNA binding, but retained ability to interact a structure-selective manner with non-B act as regulators of transcription. To identify functional binding sites mutp53, we established small library genomic sequences bound by R273H U251 glioblastoma cells using chromatin immunoprecipitation (ChIP). Mutp53 isolated...
The category of ALK -rearranged mesenchymal neoplasms has been evolving rapidly, with reports morphologically diverse lesions cutaneous, soft tissue, and visceral origin. While some these represent defined entities harboring recurrent fusions (inflammatory myofibroblastic tumor epithelioid fibrous histiocytoma), others are unclassified by morphology variable overlap the tyrosine kinase family neoplasia their underlying cannot be suspected based on morphology. We herein report 3 cases that...
Abstract Alterations in Homologous Recombination Repair (HRR) Pathway genes have been found to be associated with HR‐Deficiency (HRD), which is an approved biomarker for PARP Inhibitor (PARPi) treatment. The aim of a Molecular Tumor Board (MTB) identify molecular alterations cancer patients advanced tumors that may suggest off‐label treatment options. So far, few studies analyzed the presence HRR gene mutations and their association HRD outside clinical studies. Currently, no data on testing...
Background The introduction of next-generation sequencing (NGS) into molecular cancer diagnostics has led to an increase in the data available for identification and evaluation driver mutations defining personalized treatment regimens. meaningful combination omics data, ie, pathogenic gene variants alterations with other patient understand full picture malignancy been challenging. Objective This study describes implementation a system capable processing, analyzing, subsequently combining NGS...
Sclerosing mucoepidermoid carcinoma with eosinophilia (SMECE) is an exceedingly rare low-grade thyroid malignancy of unknown histogenesis. NUT another rare, highly aggressive neoplasm predilection for the midline, defined by recurrent NUTM1 fusions. The bromodomain family genes (BRD4 or BRD3) and rarely NSD3, ZNF532, others are known fusion partners. We describe extraordinary case a 42-year-old female SMECE treated thyroidectomy neck dissection. She presented 6 months later extensive midline...
(1) Background: molecular tumor boards (MTBs) are crucial instruments for discussing and allocating targeted therapies to suitable cancer patients based on genetic findings. Currently, limited evidence is available regarding the regional impact outreach component of MTBs; (2) Methods: we analyzed MTB patient data from four neighboring Bavarian tertiary care oncology centers in Würzburg, Erlangen, Regensburg, Augsburg, together constituting WERA Alliance. Absolute numbers distribution across...
Abstract Porocarcinoma (synonym: malignant eccrine poroma) is a rare aggressive carcinoma type with terminal sweat gland duct differentiation. The squamous variant of porocarcinoma even less frequent and might be indistinguishable from conventional cell (SCC). We herein describe the first case presenting as primary parotid malignancy in 24-year-old male without any other tumor. Total parotidectomy neck dissection were performed followed by adjuvant chemoradiation. patient remained alive well...
Background: Multifocal occurrence is a main characteristic of urothelial bladder cancer (UBC). Whether transformation caused by monoclonal events within the urothelium, or polyclonal unrelated resulting in several tumor clones still under debate. TERT promoter mutations are most common somatic alteration identified UBC. In this study, we analyzed different histological tissues from whole-organ mapping specimens to reveal mutational status, as well discern how tumors develop. Methods: Up 23...
Molecular Tumor Boards (MTBs) converge state-of-the-art next-generation sequencing (NGS) methods with the expertise of an interdisciplinary team consisting clinicians, pathologists, human geneticists, and molecular biologists to provide molecularly informed guidance in clinical decision making treating physician. In present study, we particularly focused on elucidating factors impacting translation MTB recommendations, utilizing data generated from gene panel mediated comprehensive genomic...
The ERK signalling pathway regulates key cell fate decisions in the intestinal epithelium and is frequently dysregulated colorectal cancers (CRCs). Variations dynamics of activation can induce different biological outcomes are regulated by multiple mechanisms, including negative feedback loops involving transcriptional induction dual-specificity phosphatases (DUSPs). We have found that nuclear ERK-selective phosphatase DUSP5 downregulated tumours lines, as previously observed gastric...
VOLUME 289 (2014) PAGES 25306–25316 Dr. Dávalos-Salas's name was misspelled. The correct spelling is Mercedes Dávalos-Salas, as shown in the author line.