{"entity": "journal", "iuid": "2732f2ce9550450392a8c2d59f99471d", "timestamp": "2026-03-17T00:29:44.519Z", "links": {"self": {"href": "https://publications.scilifelab.se/journal/Cancer%20Genomics%20Proteomics.json"}, "display": {"href": "https://publications.scilifelab.se/journal/Cancer%20Genomics%20Proteomics"}}, "title": "Cancer Genomics Proteomics", "issn": "1790-6245", "issn-l": "1109-6535", "publications_count": 2, "publications": [{"entity": "publication", "iuid": "adad88147b7c48468406b058cf7d8c9c", "links": {"self": {"href": "https://publications.scilifelab.se/publication/adad88147b7c48468406b058cf7d8c9c.json"}, "display": {"href": "https://publications.scilifelab.se/publication/adad88147b7c48468406b058cf7d8c9c"}}, "title": "Novel TPR::ROS1 Fusion Gene Activates MAPK, PI3K and JAK/STAT Signaling in an Infant-type Pediatric Glioma.", "authors": [{"family": "Deland", "given": "Lily", "initials": "L"}, {"family": "Keane", "given": "Simon", "initials": "S"}, {"family": "Bontell", "given": "Thomas Olsson", "initials": "TO"}, {"family": "Fagman", "given": "Henrik", "initials": "H"}, {"family": "Sj\u00f6gren", "given": "Helene", "initials": "H"}, {"family": "Lind", "given": "Anders E", "initials": "AE"}, {"family": "Car\u00e9n", "given": "Helena", "initials": "H"}, {"family": "Tisell", "given": "Magnus", "initials": "M"}, {"family": "Nilsson", "given": "Jonas A", "initials": "JA"}, {"family": "Ejesk\u00e4r", "given": "Katarina", "initials": "K"}, {"family": "Sabel", "given": "Magnus", "initials": "M"}, {"family": "Abel", "given": "Frida", "initials": "F"}], "type": "case reports", "published": "2022-11-01", "journal": {"title": "Cancer Genomics Proteomics", "issn": "1790-6245", "volume": "19", "issue": "6", "pages": "711-726", "issn-l": "1109-6535"}, "abstract": "Although fusion genes involving the proto-oncogene receptor tyrosine kinase ROS1 are rare in pediatric glioma, targeted therapies with small inhibitors are increasingly being approved for histology-agnostic fusion-positive solid tumors.\n\nHere, we present a 16-month-old boy, with a brain tumor in the third ventricle. The patient underwent complete resection but relapsed two years after diagnosis and underwent a second operation. The tumor was initially classified as a low-grade glioma (WHO grade 2); however, methylation profiling suggested the newly WHO-recognized type: infant-type hemispheric glioma. To further refine the molecular background, and search for druggable targets, whole genome (WGS) and whole transcriptome (RNA-Seq) sequencing was performed.\n\nConcomitant WGS and RNA-Seq analysis revealed several segmental gains and losses resulting in complex structural rearrangements and fusion genes. Among the top-candidates was a novel TPR::ROS1 fusion, for which only the 3' end of ROS1 was expressed in tumor tissue, indicating that wild type ROS1 is not normally expressed in the tissue of origin. Functional analysis by Western blot on protein lysates from transiently transfected HEK293 cells showed the TPR::ROS1 fusion gene to activate the MAPK-, PI3K- and JAK/STAT- pathways through increased phosphorylation of ERK, AKT, STAT and S6. The downstream pathway activation was also confirmed by immunohistochemistry on tumor tissue slides from the patient.\n\nWe have mapped the activated oncogenic pathways of a novel ROS1-fusion gene and broadened the knowledge of the newly recognized infant-type glioma subtype. The finding facilitates suitable targeted therapies for the patient in case of relapse.", "doi": "10.21873/cgp.20354", "pmid": "36316040", "labels": {"Clinical Genomics Gothenburg": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC9620451"}, {"db": "pii", "key": "19/6/711"}], "notes": [], "created": "2022-12-02T12:22:42.012Z", "modified": "2022-12-02T12:22:42.027Z"}, {"entity": "publication", "iuid": "56cce9107c664ed28106aea7b9231404", "links": {"self": {"href": "https://publications.scilifelab.se/publication/56cce9107c664ed28106aea7b9231404.json"}, "display": {"href": "https://publications.scilifelab.se/publication/56cce9107c664ed28106aea7b9231404"}}, "title": "Molecular profiling using tissue microarrays as a tool to identify predictive biomarkers in laryngeal cancer treated with radiotherapy.", "authors": [{"family": "Holgersson", "given": "Georg", "initials": "G"}, {"family": "Ekman", "given": "Simon", "initials": "S", "orcid": "0000-0002-8343-6226", "researcher": {"href": "https://publications.scilifelab.se/researcher/0fcb2b2956a84f43a7b485573f445ff2.json"}}, {"family": "Reizenstein", "given": "Johan", "initials": "J"}, {"family": "Bergqvist", "given": "Michael", "initials": "M", "orcid": "0009-0003-5716-3716", "researcher": {"href": "https://publications.scilifelab.se/researcher/91d33e374d0642479a80683a989f095a.json"}}, {"family": "Pont\u00e9n", "given": "Fredrik", "initials": "F", "orcid": "0000-0003-0703-3940", "researcher": {"href": "https://publications.scilifelab.se/researcher/a8b56979a6c74891aa277fb28848b6ce.json"}}, {"family": "Uhl\u00e9n", "given": "Mattias", "initials": "M", "orcid": "0000-0002-4858-8056", "researcher": {"href": "https://publications.scilifelab.se/researcher/ff81da3cb0cf4262873b993a1b06798c.json"}}, {"family": "Magnusson", "given": "Kristina", "initials": "K"}, {"family": "Jonnalagadda", "given": "Pallavi", "initials": "P"}, {"family": "Asplund", "given": "Anna", "initials": "A"}, {"family": "Str\u00f6mberg", "given": "Sara", "initials": "S"}, {"family": "Linder", "given": "Arne", "initials": "A"}, {"family": "Blomquist", "given": "Erik", "initials": "E"}, {"family": "Liljeholm", "given": "Martin", "initials": "M"}, {"family": "L\u00f6d\u00e9n", "given": "Britta", "initials": "B"}, {"family": "Hellstr\u00f6m", "given": "Karin", "initials": "K"}, {"family": "Bergstr\u00f6m", "given": "Stefan", "initials": "S"}], "type": "journal article", "published": "2010-02-26", "journal": {"volume": "7", "issn": "1790-6245", "issue": "1", "pages": "1-7", "title": "Cancer Genomics Proteomics", "issn-l": "1109-6535"}, "abstract": "To explore the usefulness of the expression of five potential cancer biomarkers in predicting outcome in patients with laryngeal cancer.\n\nIn the present study, the Swedish National Cancer Registry databases were used to identify patients with laryngeal cancer diagnosed during the years 1978-2004 in the Uppsala-Orebro region and treated with radiotherapy. The expression of Ki-67, MutS homolog 2, (MSH2), p53, B-cell CLL/lymphoma 2 (Bcl-2) and cyclin D1 in the cancer cells was assessed immunohistochemically using tissue microarrays (TMAs) and its predicitve value on survival and relapse was analyzed using Cox regression models.\n\nA total of 39 patients were included in the present study. Nuclear MSH2 staining was statistically significantly correlated to Ki-67 expression (p=0.022). However, univariate and multivariate Cox analyses showed no statistically significant association between the expression of the investigated biomarkers and overall survival or relapse.\n\nThe present exploratory study does not show any significant predictive value of the biomarkers examined with respect to survival or relapse. However, with larger patient cohorts, we believe that protein profiling using TMAs and immunohistochemistry is a feasible strategy for prognostic and predictive biomarker screening in laryngeal cancer.", "doi": null, "pmid": "20181625", "labels": {"Tissue Profiling": null}, "xrefs": [{"db": "pii", "key": "7/1/1"}], "notes": [], "created": "2017-05-04T14:55:42.778Z", "modified": "2025-11-17T09:52:58.446Z"}], "created": "2017-05-09T09:12:12.185Z", "modified": "2020-11-27T13:14:07.095Z"}