A5088369932- CAR-T cell therapy research
- Cancer Immunotherapy and Biomarkers
- Immunotherapy and Immune Responses
- Sarcoma Diagnosis and Treatment
- Cutaneous Melanoma Detection and Management
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Breast Cancer Treatment Studies
- Epigenetics and DNA Methylation
- Cancer-related molecular mechanisms research
- vaccines and immunoinformatics approaches
- Melanoma and MAPK Pathways
- Radiomics and Machine Learning in Medical Imaging
- Viral-associated cancers and disorders
- Single-cell and spatial transcriptomics
- Cancer, Hypoxia, and Metabolism
- Immune Cell Function and Interaction
- Advanced Proteomics Techniques and Applications
- Ear and Head Tumors
- melanin and skin pigmentation
- Immune cells in cancer
- Histiocytic Disorders and Treatments
- Hippo pathway signaling and YAP/TAZ
- Ferroptosis and cancer prognosis
- BRCA gene mutations in cancer
Lund University
2017-2024
Genetikum
2020
Medicon Village
2017-2020
The University of Texas MD Anderson Cancer Center
2012
Adoptive T-cell therapy (ACT) is a highly intensive immunotherapy regime that has yielded remarkable response rates and many durable responses in clinical trials melanoma; however, 50-60% of the patients have no benefit. Here, we searched for predictive biomarkers to ACT melanoma. Whole exome- transcriptome sequencing neoantigen prediction were applied pre-treatment samples from 27 recruited phase I/II trial stage IV All had previously progressed on other immunotherapies. We report benefit...
Homologous recombination deficiency (HRD) is a defining characteristic in BRCA-deficient breast tumors caused by genetic or epigenetic alterations key pathway genes. We investigated the frequency of BRCA1 promoter hypermethylation 237 triple-negative cancers (TNBCs) from population-based study using reported whole genome and RNA sequencing data, complemented with analyses genetic, epigenetic, transcriptomic immune infiltration phenotypes. demonstrate that twice as frequent pathogenic...
Checkpoint blockade therapies have changed the clinical management of metastatic melanoma patients considerably, showing survival benefits. Despite success, not all respond to treatment or they develop resistance. Although there are several predictive biomarkers, understanding therapy resistance and mechanisms tumor immune evasion is crucial increase frequency benefiting from treatment. The PTEN gene thought promote frequently mutated in cancer melanoma. Another feature tumors that may...
Abstract Background Breast cancer in young adults has been implicated with a worse outcome. Analyses of genomic traits associated age have heterogenous, likely because an incomplete accounting for underlying molecular subtypes. We aimed to resolve whether triple-negative breast (TNBC) younger versus older patients represent similar or different diseases the context genetic and transcriptional subtypes immune cell infiltration. Patients methods In total, 237 from reported population-based...
The presence of immune cells in the tumor microenvironment has been associated with response to immunotherapies across several cancer types, including melanoma. Despite its therapeutic relevance, characterization melanoma microenvironments remains insufficiently explored. To distinguish a cohort 180 metastatic clinical specimens, we developed method using promoter CpG methylation cell type-specific genes extracted from genome-wide arrays. Unsupervised clustering identified three clusters...
Abstract Well-differentiated liposarcoma (WDLS) displays amplification of genes on chromosome 12 (Chr12) in supernumerary ring or giant marker chromosomes. These structures have been suggested to develop through chromothripsis, followed by circularization and breakage-fusion-bridge (BFB) cycles. To test this hypothesis, we compared WDLSs with Chr12 rod-shaped chromosomes rings. Both types amplicons share the same spectrum structural variants (SVs), show higher SV frequencies than...
Chronic sun-damaged (CSD) melanoma represents 10%-20% of cutaneous melanomas and is characterized by infrequent BRAF V600E mutations high mutational load. However, the order genetic events or extent intra-tumor heterogeneity (ITH) in CSDhigh still unknown. Ultra-deep targeted sequencing 40 cancer-associated genes was performed 72 situ invasive CMM, including 23 cases. In addition, we whole exome RNA on multiple regions primary tumor in-transit metastases from one patient. We found no...
Abstract Metastatic melanoma is one of the most common deadly cancers, and robust biomarkers are still needed, e.g. to predict survival treatment efficiency. Here, protein expression analysis hundred eleven lymph node metastases using high resolution mass spectrometry coupled with in-depth histopathology analysis, clinical data genomics profiles. This broad view allowed identify novel candidate markers that improved prediction in patients. Some prognostic proteins have not been reported...
Cellular stress contributes to the capacity of melanoma cells undergo phenotype switching into highly migratory and drug-tolerant dedifferentiated states. Such cell states are marked by loss melanocyte-specific gene expression increase mesenchymal markers. Two crucial transcription factors, microphthalmia-associated factor (MITF) SRY-box 10 (SOX10), important in development progression, have been implicated this process. In study we describe that MITF is associated with a distinct...
Most neoplasia-associated gene fusions are formed through the fusion of 5'-part one with 3'-part another. We here describe a unique mechanism, by which part KMT2A an insertion replaces YAP1 gene. The resulting YAP1::KMT2A::YAP1 (YKY) was verified RT-PCR in three cases sarcoma morphologically resembling sclerosing epithelioid fibrosarcoma (SEF-like sarcoma). In all cases, portion (exons 4/5-6) encoding CXXC domain inserted between exon 4/5 and 8/9 YAP1. sequence from thus replaced exons 5/6-8...
Abstract The ERBB2 gene encodes a receptor tyrosine kinase also known as HER2. is amplified and overexpressed in one‐fifth of breast carcinomas; patients with such tumors benefit from targeted treatment trastuzumab or other drugs blocking the receptor. In addition, has been shown to be and/or variety malignancies. Notably, both alveolar embryonal rhabdomyosarcoma (RMS), especially children, often show increased expression ERBB2. Although high‐level amplification not described RMS, its...
Myxofibrosarcoma (MFS) and undifferentiated pleomorphic sarcoma (UPS) are two common aggressive subtypes of soft tissue sarcoma. The aim this study was to assess potential transcriptomic differences between MFS UPS tumours evaluate the extent which in gene expression profiles were associated with genomic clinical features. included 162 patients diagnosed as (N = 62) or 100). had been treated at Swedish centres during a 30-year period. For profiling fusion detection all analysed using...
An amendment to this paper has been published and can be accessed via a link at the top of paper.
An amendment to this paper has been published and can be accessed via the original article.
Abstract Purpose: Although breast cancers are known to be molecularly heterogeneous, their metabolic heterogeneity is less well understood. This study aimed identify and evaluate biomarkers in determine ability predict outcomes. Methods: mRNA microarray data from cancer cell lines were used bimodal genes, those with the highest potential for robust high/low classification a clinical setting. Using panel of lines, expression activity scoring metabolism gene, lactate dehydrogenase B (LDHB),...