A5041377715- Lung Cancer Treatments and Mutations
- Cancer Genomics and Diagnostics
- Colorectal Cancer Treatments and Studies
- Salivary Gland Tumors Diagnosis and Treatment
- Ear and Head Tumors
- Glioma Diagnosis and Treatment
- Genetic factors in colorectal cancer
- Lung Cancer Research Studies
- Pancreatic and Hepatic Oncology Research
- Head and Neck Surgical Oncology
- Forensic and Genetic Research
- Radiomics and Machine Learning in Medical Imaging
- Chromatin Remodeling and Cancer
- Epigenetics and DNA Methylation
- Genetic diversity and population structure
- Gastric Cancer Management and Outcomes
- Prion Diseases and Protein Misfolding
- Neuroendocrine Tumor Research Advances
- Cancer Cells and Metastasis
- Tumors and Oncological Cases
- Cutaneous Melanoma Detection and Management
- Oral and Maxillofacial Pathology
- Head and Neck Cancer Studies
- Meningioma and schwannoma management
- Neuroblastoma Research and Treatments
Rigshospitalet
2016-2025
University of Copenhagen
2007-2024
Copenhagen University Hospital
2015-2024
RELX Group (Netherlands)
2022
University of Bologna
2019
Ospedale Bellaria
2019
Istituto delle Scienze Neurologiche di Bologna
2019
University of Illinois Chicago
2018
University of Minnesota System
2018
University Health Network
2018
The New World Arctic, the last region of Americas to be populated by humans, has a relatively well-researched archaeology, but an understanding its genetic history is lacking. We present genome-wide sequence data from ancient and present-day humans Greenland, Arctic Canada, Alaska, Aleutian Islands, Siberia. show that Paleo-Eskimos (~3000 BCE 1300 CE) represent migration pulse into independent both Native American Inuit expansions. Furthermore, continuity characterizing Paleo-Eskimo period...
A large number of dry-preserved insect specimens exist in collections around the world that might be useful for genetic analyses. However, until now, recovery nucleic acids from such has involved at least partial destruction specimen. This is clearly undesirable when dealing with rare species or otherwise important specimens, as type specimens.We describe a method extraction PCR-amplifiable mitochondrial and nuclear DNA dry insects without causing external morphological damage. Using PCR to...
Low-grade sinonasal adenocarcinomas (low-grade SNACs) of the tract comprise a poorly characterized and histologically heterogeneous group tumors. We describe three cases distinct variant low-grade SNAC by ETV6 gene rearrangements. The patients included 2 women (aged 32 88 y) man 75 y); all were initially treated with surgery alone. Follow-up ranged from 9 to 170 months one patient having local recurrences none experiencing distant or regional metastases. Tumors composed cytologically bland...
The spectrum of tumors arising in the salivary glands is wide and has recently been shown to harbor a network tumor-specific fusion genes. Acinic cell carcinoma (AciCC) one more frequently encountered types gland carcinoma, but it remained genetic orphan until when between HTN3 MSANTD3 genes was described case. Neither these 2 known be implicated any other malignancy. This study undertaken investigate whether - recurrent event AciCC characteristic its histological variants. Of 273 AciCCs...
Abstract Glioneuronal tumors are a heterogenous group of CNS neoplasms that can be challenging to accurately diagnose. Molecular methods highly useful in classifying these tumors—distinguishing precise classes from their histological mimics and identifying previously unrecognized types tumors. Using an unsupervised visualization approach DNA methylation data, we identified novel ( n = 20) formed cluster separate all established tumor types. analyses revealed ATRX alterations (in 16/16 cases...
Before initiating treatment of advanced non-small-cell lung cancer with tyrosine kinase inhibitors (eg, erlotinib, gefitinib, osimertinib, and afatinib), which inhibit the catalytic activity epidermal growth factor receptor (EGFR), clinical guidelines require determining EGFR mutational status for activating (EGFR exons 18, 19, 20, or 21) resistance exon 20) mutations. The mutation T790M should be monitored at progression. Idylla Mutation Assay, performed on molecular diagnostics platform,...
Using established criteria for work with fossil DNA we have analysed mitochondrial from 92 individuals 18 locations in Denmark ranging time the Mesolithic to Medieval Age. Unequivocal assignment of mtDNA haplotypes was possible 56 ancient individuals; however, success rate varied substantially between sites; highest rates were obtained untouched, freshly excavated material, whereas heavy handling, archeological preservation and storage many years influenced ability obtain authentic endogenic...
Anaplastic lymphoma kinase-positive non-small cell lung carcinoma patients are generally highly responsive to the dual anaplastic kinase and MET tyrosine inhibitor crizotinib. However, they eventually acquire resistance this drug, preventing inhibitors from having a prolonged beneficial effect. The molecular mechanisms responsible for crizotinib beginning emerge, e.g., in some carcinomas development of secondary mutations gene has been described. events behind crizotinib-resistance currently...
// Jan Nyrop Jakobsen 1, * , Eric Santoni-Rugiu 2, Morten Grauslund 2 Linea Melchior and Jens Benn Sørensen 1 Department of Oncology, Copenhagen University Hospital/Rigshospitalet, Copenhagen, Denmark Pathology, Equal first authors Correspondence to: Jakobsen, email: jan.nyrop.jakobsen@regionh.dk Santoni-Rugiu, eric.santoni-rugiu.02@regionh.dk Keywords: NSCLC; EGFR; erlotinib; tarceva; mutation Received: February 19, 2018 Accepted: May 05, Published: 25, ABSTRACT Background: Patients with...
Since the advent of monoclonal antibodies against epidermal growth factor receptor (EGFR) in colorectal cancer therapy, determination RAS mutational status is needed for therapeutic decision-making. Most prevalent are KRAS exon 2 mutations (40% prevalence); lower prevalence observed 3 and 4 (6%) NRAS 2, 3, (5%). The Idylla™ Mutation Test on molecular diagnostics platform a simple (<2 minutes hands-on time), highly reliable, rapid (approximately hours turnaround time) vitro diagnostic...
Polymorphous adenocarcinoma (PAC) of the palatal minor salivary glands, previously known as polymorphous low-grade adenocarcinoma, is second most common intraoral malignant gland carcinoma after adenoid cystic (ACC) and carries an excellent prognosis. Unfortunately, PAC demonstrates cytological overlap with 2 other tumors frequently encountered in same location, namely ACC pleomorphic adenoma (PA). Recently, protein kinase D1 (PRKD1) hotspot mutation E710D was demonstrated to be specific for...
Anaplastic lymphoma-kinase (ALK)-rearranged non-small cell lung cancer (NSCLC) is prone to developing heterogeneous, only partly known mechanisms of resistance ALK-tyrosine-kinase-inhibitors (ALK-TKIs). We present a case 38-year old male, who never smoked with disseminated ALK-rearranged (EML4 (20) – ALK fusion variant 2) adenocarcinoma, received four sequentially different ALK-TKIs and two lines chemotherapy in-between. observed significant clinical benefit by the first three (Crizotinib,...
Herein, we wanted to explore the molecular landscape of mucosal melanoma from different sites and identify potential targets for future therapy. Mucosal melanomas ( N = 40) (conjunctiva, sinonasal cavity, rectum, vagina) were investigated. Targeted next-generation sequencing along with Nanostring gene expression profiling was performed. Genetically, conjunctival characterized by BRAF -V600E (30%) NF1 mutations (17%). at nonsun-exposed harbored alterations in NRAS , KIT atypical mutations....
Abstract The 15th century Inuit mummies excavated at Qilakitsoq in Greenland 1978 were exceptionally well preserved and represent the largest find of naturally mummified specimens from Arctic. estimated ages individuals, their distribution between two adjacent graves, results tissue typing, incomplete STR led researchers to conclude that eight formed distinct family groups: A grandmother (I/5), daughters (I/3, I/4), children (I/1, I/2) one grave, sisters (II/6, II/8) a daughter (II/7) them...
Silver–Russell syndrome (SRS) is characterised by prenatal and postnatal growth retardation, dysmorphic facial features, body asymmetry. In 35–60% of SRS cases the paternally methylated imprinting control region (ICR) upstream <i>H19</i> gene (H19-ICR) hypomethylated, leading to downregulation <i>IGF2</i> bi-allelic expression <i>H19</i>. are reciprocally imprinted genes on chromosome 11p15. The regulated methylation ICR, which modulates transcription facilitated enhancers downstream A...
Abstract Background The detection of human papillomavirus (HPV) has several implications in the diagnostic work-up and management oropharyngeal squamous cell carcinoma (OPSCC). choice HPV assay testing algorithms differ across institutions vary cost, targets, technical feasibility, turnaround time. In this study, we aimed to validate VisionArray® Chip for formalin-fixed paraffin-embedded (FFPE) samples OPSCC using previously applied standard pan-HPV DNA PCR as a reference. Methods validation...