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Molecular profiling of driver events in metastatic uveal melanoma

Karlsson, Joakim ; Nilsson, Lisa M ; Mitra, Suman ; Alsén, Samuel ; Shelke, Ganesh Vilas ; Sah, Vasu R ; Forsberg, Elin M V ; Stierner, Ulrika ; All-Eriksson, Charlotta ; Einarsdottir, Berglind ; Jespersen, Henrik ; Ny, Lars ; Lindnér, Per ; Larsson, Erik ; Olofsson Bagge, Roger ; Nilsson, Jonas A

Nature communications, 2020-04, Vol.11 (1), p.1894-1894, Article 1894 [Periódico revisado por pares]

England: Nature Publishing Group

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Título:
Molecular profiling of driver events in metastatic uveal melanoma
Autor: Karlsson, Joakim ; Nilsson, Lisa M ; Mitra, Suman ; Alsén, Samuel ; Shelke, Ganesh Vilas ; Sah, Vasu R ; Forsberg, Elin M V ; Stierner, Ulrika ; All-Eriksson, Charlotta ; Einarsdottir, Berglind ; Jespersen, Henrik ; Ny, Lars ; Lindnér, Per ; Larsson, Erik ; Olofsson Bagge, Roger ; Nilsson, Jonas A
Assuntos: allele ; animal cell ; animal experiment ; animal model ; animal tissue ; Animals ; Biopsy ; BRCA1 associated ring domain protein 1 ; Cancer and Oncology ; Cancer och onkologi ; CD39 antigen ; cell ; controlled study ; cryopreservation ; cyclin dependent kinase inhibitor 2A ; Cyclin-Dependent Kinase Inhibitor p16 - genetics ; DNA sequencing ; down regulation ; Female ; flow cytometry ; Gene Dosage ; gene expression ; Gene Expression Regulation, Neoplastic ; gene knockdown ; Gene Knockdown Techniques ; gene mutation ; Gene sequencing ; genetic analysis ; Genetics ; genome ; Genomes ; Genomics ; genotyping technique ; hepatitis A virus cellular receptor 2 ; HLA typing ; human ; human tissue ; Humans ; Immune checkpoint ; Immune system ; immunohistochemistry ; liquid chromatography-mass spectrometry ; Lymphocytes ; Lymphocytes, Tumor-Infiltrating - pathology ; Melanoma ; Melanoma - genetics ; Melanoma - immunology ; Melanoma - metabolism ; Melanoma - pathology ; Metastases ; Metastasis ; metastatic uvea melanoma ; Mice ; molecular fingerprinting ; mouse ; Mutation ; Neoplasms, Second Primary - genetics ; Neoplasms, Second Primary - immunology ; Neoplasms, Second Primary - metabolism ; Neoplasms, Second Primary - pathology ; nonhuman ; Outliers (statistics) ; Prognosis ; programmed death 1 receptor ; protein expression ; protein protein interaction ; proteomics ; real time reverse transcription polymerase chain reaction ; Sequence Analysis, DNA ; single cell RNA seq ; skin ; Skin cancer ; Transcriptome ; transcriptomics ; tumor ; tumor associated leukocyte ; tumor biopsy ; Tumor Suppressor Proteins - genetics ; Tumor-infiltrating lymphocytes ; Tumors ; Ubiquitin Thiolesterase - genetics ; upregulation ; Uveal Neoplasms - genetics ; Uveal Neoplasms - immunology ; Uveal Neoplasms - metabolism ; Uveal Neoplasms - pathology ; Whole genome sequencing
É parte de: Nature communications, 2020-04, Vol.11 (1), p.1894-1894, Article 1894
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
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Descrição: 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.
Editor: England: Nature Publishing Group
Idioma: Inglês

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Molecular profiling of driver events in metastatic uveal melanoma

England: Nature Publishing Group

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