DNA methylation profiling improves routine diagnosis of paediatric central nervous system tumours: A prospective population-based study

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DNA methylation profiling improves routine diagnosis of paediatric central nervous system tumours: A prospective population-based study

Schepke, Elizabeth (författare): Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine,Childhood Cancer Centre, Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden; Sahlgrenska Centre for Cancer Research, Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden,Sahlgrens Univ Hosp, Queen Silvia Childrens Hosp, Childhood Canc Ctr, Gothenburg, Sweden.;Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Sahlgrenska Ctr Canc Res,Dept Lab Med, Gothenburg, Sweden.

Löfgren, Maja (författare): Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine,Sahlgrenska Centre for Cancer Research, Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden,Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Sahlgrenska Ctr Canc Res,Dept Lab Med, Gothenburg, Sweden.

Pietsch, T. (författare): Department of Neuropathology, DGNN Brain Tumour Reference Centre, University of Bonn Medical Centre, Bonn, Germany,Univ Bonn, Dept Neuropathol, DGNN Brain Tumour Reference Ctr, Med Ctr, Bonn, Germany.

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Bontell, Thomas Olsson (författare): Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för fysiologi,Institute of Neuroscience and Physiology, Department of Physiology,Department of Clinical Pathology and Cytology, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Physiology, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden,Sahlgrens Univ Hosp, Dept Clin Pathol & Cytol, Gothenburg, Sweden.;Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Dept Physiol, Gothenburg, Sweden.

Kling, Teresia, 1985 (författare): Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine,Sahlgrenska Centre for Cancer Research, Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden,Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Sahlgrenska Ctr Canc Res,Dept Lab Med, Gothenburg, Sweden.

Wenger, Anna, 1990 (författare): Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine,Sahlgrenska Centre for Cancer Research, Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden,Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Sahlgrenska Ctr Canc Res,Dept Lab Med, Gothenburg, Sweden.

Ferreyra Vega, Sandra (författare): Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap,Department of Laboratory Medicine,Institute of Neuroscience and Physiology, Department of Clinical Neuroscience,Sahlgrenska Centre for Cancer Research, Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Department of Clinical Neuroscience, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Sweden,Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Sahlgrenska Ctr Canc Res,Dept Lab Med, Gothenburg, Sweden.;Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Dept Clin Neurosci, Gothenburg, Sweden.

Danielsson, Anna (författare): Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine,Sahlgrenska Centre for Cancer Research, Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden,Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Sahlgrenska Ctr Canc Res,Dept Lab Med, Gothenburg, Sweden.

Dosa, Sandor (författare): Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för fysiologi,Institute of Neuroscience and Physiology, Department of Physiology,Department of Physiology, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden,Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Dept Physiol, Gothenburg, Sweden.

Holm, S. (författare): Department of Paediatrics, Karolinska University Hospital, Stockholm, Sweden,Karolinska Univ Hosp, Dept Paediat, Stockholm, Sweden.

Öberg, Anders (författare): Uppsala universitet,Barnonkologisk forskning - särskilt fokus på komplikationer,Uppsala Univ, Sweden

Nyman, Per (författare): Linköpings universitet,Avdelningen för diagnostik och specialistmedicin,Medicinska fakulteten,Region Östergötland, H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus

Eliasson-Hofvander, M. (författare): Department of Paediatric Oncology and Haematology, Lund University, Skane University Hospital, Lund, Sweden,Lund Univ, Skane Univ Hosp, Dept Paediat Oncol & Haematol, Lund, Sweden.

Sandström, Per-Erik (författare): Umeå universitet,Pediatrik,Umea Univ, Dept Paediat, Umea, Sweden.

Sabel, Magnus, 1966 (författare): Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics

Lannering, Birgitta, 1948 (författare): Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics,Department of Paediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden,Univ Gothenburg, Sahlgrenska Acad, Inst Clin Sci, Dept Paediat, Gothenburg, Sweden.

Sabel, Magnus, 1966 (författare): Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics

Caren, Helena (författare): Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine,Sahlgrenska Centre for Cancer Research, Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden,Univ Gothenburg, Sahlgrenska Acad, Inst Biomed, Sahlgrenska Ctr Canc Res,Dept Lab Med, Gothenburg, Sweden.

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2022-08-03
2022
Engelska.
Ingår i: Neuropathology and Applied Neurobiology. - : Wiley. - 0305-1846 .- 1365-2990. ; 48:6

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Tidskriftsartikel (refereegranskat)

Abstract Ämnesord

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Aims: Paediatric brain tumours are rare, and establishing a precise diagnosis can be challenging. Analysis of DNA methylation profiles has been shown to be a reliable method to classify central nervous system (CNS) tumours with high accuracy. We aimed to prospectively analyse CNS tumours diagnosed in Sweden, to assess the clinical impact of adding DNA methylation-based classification to standard paediatric brain tumour diagnostics in an unselected cohort. Methods: All CNS tumours diagnosed in children (0-18 years) during 2017-2020 were eligible for inclusion provided sufficient tumour material was available. Tumours were analysed using genome-wide DNA methylation profiling and classified by the MNP brain tumour classifier. The initial histopathological diagnosis was compared with the DNA methylation-based classification. For incongruent results, a blinded re-evaluation was performed by an experienced neuropathologist. Results: Two hundred forty tumours with a histopathology-based diagnosis were profiled. A high-confidence methylation score of 0.84 or more was reached in 78% of the cases. In 69%, the histopathological diagnosis was confirmed, and for some of these also refined, 6% were incongruent, and the re-evaluation favoured the methylation-based classification. In the remaining 3% of cases, the methylation class was non-contributory. The change in diagnosis would have had a direct impact on the clinical management in 5% of all patients. Conclusions: Integrating DNA methylation-based tumour classification into routine clinical analysis improves diagnostics and provides molecular information that is important for treatment decisions. The results from methylation profiling should be interpreted in the context of clinical and histopathological information.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Klinisk laboratoriemedicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Clinical Laboratory Medicine (hsv//eng)

Nyckelord

diagnostics
DNA methylation profiling
molecular classification
paediatric brain tumours
molecular classification
childhood-cancer
survivors
sweden
Neurosciences & Neurology
Pathology
diagnostics

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Av författaren/redakt...: Schepke, Elizabe ...; Löfgren, Maja; Pietsch, T.; Bontell, Thomas ...; Kling, Teresia, ...; Wenger, Anna, 19 ...; visa fler...; Ferreyra Vega, S ...; Danielsson, Anna; Dosa, Sandor; Holm, S.; Öberg, Anders; Nyman, Per; Eliasson-Hofvand ...; Sandström, Per-E ...; Sabel, Magnus, 1 ...; Lannering, Birgi ...; Caren, Helena; visa färre...

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Av lärosätet: Göteborgs universitet; Umeå universitet; Uppsala universitet; Linköpings universitet

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