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Molecular profiling of driver events in metastatic uveal melanoma

Artikel i vetenskaplig tidskrift
Författare Joakim Karlsson
Lisa M Nilsson
Suman Mitra
Samuel Alsén
Ganesh V Shelke
Vasu R. Sah
Elin Forsberg
Ulrika Stierner
C. All-Eriksson
Berglind Osk Einarsdottir
Henrik Jespersen
Lars Ny
Per Lindnér
Erik Larsson
Roger Olofsson Bagge
Jonas A Nilsson
Publicerad i Nature Communications
Volym 11
Nummer/häfte 1
ISSN 2041-1723
Publiceringsår 2020
Publicerad vid Institutionen för kliniska vetenskaper, Avdelningen för onkologi
Sahlgrenska Cancer Center
Institutionen för biomedicin
Institutionen för kliniska vetenskaper
Språk en
Länkar dx.doi.org/10.1038/s41467-020-15606...
Ämnesord BRCA1 associated ring domain protein 1, CD39 antigen, cyclin dependent kinase inhibitor 2A, hepatitis A virus cellular receptor 2, programmed death 1 receptor, allele, cell, gene expression, genetic analysis, genome, mutation, skin, tumor, animal cell, animal experiment, animal model, animal tissue, Article, controlled study, cryopreservation, DNA sequencing, down regulation, female, flow cytometry, gene dosage, gene knockdown, gene mutation, genotyping technique, HLA typing, human, human tissue, immunohistochemistry, liquid chromatography-mass spectrometry, metastasis, metastatic uvea melanoma, molecular fingerprinting, mouse, nonhuman, protein expression, protein protein interaction, proteomics, real time reverse transcription polymerase chain reaction, single cell RNA seq, transcriptomics, tumor associated leukocyte, tumor biopsy, upregulation, whole genome sequencing
Ämneskategorier Cancer och onkologi

Sammanfattning

Metastatic uveal melanoma is less well understood than its primary counterpart, has a distinct biology compared to skin melanoma, and lacks effective treatments. Here we genomically profile metastatic tumors and infiltrating lymphocytes. BAP1 alterations are overrepresented and found in 29/32 of cases. Reintroducing a functional BAP1 allele into a deficient patient-derived cell line, reveals a broad shift towards a transcriptomic subtype previously associated with better prognosis of the primary disease. One outlier tumor has a high mutational burden associated with UV-damage. CDKN2A deletions also occur, which are rarely present in primaries. A focused knockdown screen is used to investigate overexpressed genes associated withcopy number gains. Tumor-infiltrating lymphocytes are in several cases found tumor-reactive, but expression of the immune checkpoint receptors TIM-3, TIGIT and LAG3 is also abundant. This study represents the largest whole-genome analysis of uveal melanoma to date, and presents an updated view of the metastatic disease. © 2020, The Author(s).

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