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Träfflista för sökning "WFRF:(Pesola Jouni) "

Search: WFRF:(Pesola Jouni)

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  • Keck, Michaela Kristina, et al. (author)
  • Amplification of the PLAG-family genes—PLAGL1 and PLAGL2—is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification
  • 2023
  • In: Acta Neuropathologica. - : Springer Science and Business Media LLC. - 0001-6322 .- 1432-0533. ; 145:1, s. 49-69
  • Journal article (peer-reviewed)abstract
    • Pediatric central nervous system (CNS) tumors represent the most common cause of cancer-related death in children aged 0–14 years. They differ from their adult counterparts, showing extensive clinical and molecular heterogeneity as well as a challenging histopathological spectrum that often impairs accurate diagnosis. Here, we use DNA methylation-based CNS tumor classification in combination with copy number, RNA-seq, and ChIP-seq analysis to characterize a newly identified CNS tumor type. In addition, we report histology, patient characteristics, and survival data in this tumor type. We describe a biologically distinct pediatric CNS tumor type (n = 31 cases) that is characterized by focal high-level amplification and resultant overexpression of either PLAGL1 or PLAGL2, and an absence of recurrent genetic alterations characteristic of other pediatric CNS tumor types. Both genes act as transcription factors for a regulatory subset of imprinted genes (IGs), components of the Wnt/β-Catenin pathway, and the potential drug targets RET and CYP2W1, which are also specifically overexpressed in this tumor type. A derived PLAGL-specific gene expression signature indicates dysregulation of imprinting control and differentiation/development. These tumors occurred throughout the neuroaxis including the cerebral hemispheres, cerebellum, and brainstem, and were predominantly composed of primitive embryonal-like cells lacking robust expression of markers of glial or neuronal differentiation (e.g., GFAP, OLIG2, and synaptophysin). Tumors with PLAGL1 amplification were typically diagnosed during adolescence (median age 10.5 years), whereas those with PLAGL2 amplification were diagnosed during early childhood (median age 2 years). The 10-year overall survival was 66% for PLAGL1-amplified tumors, 25% for PLAGL2-amplified tumors, 18% for male patients, and 82% for female patients. In summary, we describe a new type of biologically distinct CNS tumor characterized by PLAGL1/2 amplification that occurs predominantly in infants and toddlers (PLAGL2) or adolescents (PLAGL1) which we consider best classified as a CNS embryonal tumor and which is associated with intermediate survival. The cell of origin and optimal treatment strategies remain to be defined.
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  • Thastrup, Maria, et al. (author)
  • Flow cytometric analysis of cerebrospinal fluid improves detection of leukaemic blasts in infants with acute lymphoblastic leukaemia
  • 2021
  • In: British Journal of Haematology. - : John Wiley & Sons. - 0007-1048 .- 1365-2141. ; 195:1, s. 119-122
  • Journal article (peer-reviewed)abstract
    • Infants with acute lymphoblastic leukaemia (ALL) have a high frequency of central nervous system (CNS) involvement. Flow cytometric analysis of cerebrospinal fluid (CSF) was recently demonstrated to be a sensitive method for detecting CNS involvement in childhood ALL. In the present study, CSF from 14 infants was collected at routine lumbar punctures and analysed by multicolour flow cytometry. At initial diagnosis, leukaemic blasts were detected in CSF by flow cytometry in 11 patients (78 center dot 6%) compared to seven patients (50%) by cytospin. Larger studies are needed to determine if CSF flow cytometry has prognostic value in infant ALL.
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  • Result 1-4 of 4
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journal article (3)
conference paper (1)
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other academic/artistic (2)
peer-reviewed (2)
Author/Editor
Abrahamsson, Jonas (2)
Lausen, Birgitte (2)
Albertsen, Birgitte ... (2)
Schmiegelow, Kjeld (2)
Taskinen, Mervi (2)
Marquart, Hanne Vibe ... (2)
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Frost, Britt-Marie (2)
Harila-Saari, Arja H ... (1)
Niinimaki, Riitta (1)
Harila-Saari, Arja (1)
Abrahamsson, Jonas, ... (1)
Zeller, Bernward (1)
Hasle, Henrik (1)
Ha, Shau-Yin (1)
Heldrup, Jesper (1)
Jahnukainen, Kirsi (1)
Palle, Josefine (1)
Meyronet, David (1)
Lahteenmaki, Paivi (1)
Jones, David T. W. (1)
Pfister, Stefan M. (1)
Vaitkeviciene, Goda (1)
Thastrup, Maria (1)
Behrendtz, Mikael (1)
Hoffmann, Marianne (1)
Nister, Monica (1)
Arola, Mikko (1)
Perry, Arie (1)
Roncaroli, Federico (1)
Pronk, Cornelis J. H ... (1)
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von Deimling, Andrea ... (1)
Wesseling, Pieter (1)
Schüller, Ulrich (1)
Brandner, Sebastian (1)
Modvig, Signe (1)
Samuel, David (1)
Scheie, David (1)
Figarella-Branger, D ... (1)
Solomon, David A. (1)
Koscielniak, Ewa (1)
Zapotocky, Michal (1)
Frandsen, Thomas Let ... (1)
Lund, Bendik (1)
Gunnes, Maria Winthe ... (1)
Saffery, Richard (1)
Korshunov, Andrey (1)
Beck, Pengbo (1)
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University
Uppsala University (2)
University of Gothenburg (1)
Lund University (1)
Karolinska Institutet (1)
Language
English (4)
Research subject (UKÄ/SCB)
Medical and Health Sciences (4)

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