Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome

David Sumerauer; Lenka Krskova; Ales Vicha; Adela Misove; Yasin Mamatjan; Pavla Jencova; Marketa Vlckova; Lucie Slamova; Katerina Vanova; Petr Liby; Jakub Taborsky; Miroslav Koblizek; Radek Klubal; Martin Kyncl; Gelareh Zadeh; Jan Stary; Josef Zamecnik; Vijay Ramaswamy; Michal Zapotocky

doi:10.1007/s00401-019-02118-5

Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome

Acta Neuropathol. 2020 Apr;139(4):795-797. doi: 10.1007/s00401-019-02118-5. Epub 2020 Jan 3.

Authors

David Sumerauer^{1

2}, Lenka Krskova^{1

3}, Ales Vicha^{1

2}, Adela Misove^{1

2}, Yasin Mamatjan⁴, Pavla Jencova^{1

2}, Marketa Vlckova⁵, Lucie Slamova², Katerina Vanova^{1

2}, Petr Liby⁶, Jakub Taborsky⁶, Miroslav Koblizek³, Radek Klubal⁷, Martin Kyncl⁸, Gelareh Zadeh⁹, Jan Stary², Josef Zamecnik^{1

3}, Vijay Ramaswamy^{10

11}, Michal Zapotocky^{12

13}

Affiliations

¹ Prague Brain Tumor Research Group, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
² Department of Pediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, V Uvalu 84, Prague, 150 06, Czech Republic.
³ Department of Pathology and Molecular Medicine, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
⁴ Princess Margaret Cancer Centre and MacFeeters, Hamilton Centre for Neuro-Oncology Research, Toronto, ON, Canada.
⁵ Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
⁶ Department of Neurosurgery, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
⁷ Medical Centre Prague, Prague, Czech Republic.
⁸ Department of Radiology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
⁹ Department of Neurosurgery, Toronto Western Hospital, University of Toronto, Toronto, ON, Canada.
¹⁰ Division of Pediatric Hematology/Oncology, Programme in Developmental and Stem Cell Biology, Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G1X8, Canada. [email protected].
¹¹ Departments of Medical Biophysics and Paediatrics, University of Toronto, Toronto, ON, Canada. [email protected].
¹² Prague Brain Tumor Research Group, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic. [email protected].
¹³ Department of Pediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, V Uvalu 84, Prague, 150 06, Czech Republic. [email protected].

PMID: 31897644
DOI: 10.1007/s00401-019-02118-5

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Astrocytoma / complications
Astrocytoma / genetics*
Brain Neoplasms / complications
Brain Neoplasms / genetics*
Child
Female
Humans
Isocitrate Dehydrogenase / genetics*
Li-Fraumeni Syndrome / complications
Li-Fraumeni Syndrome / genetics*
Male
Mutation
Tumor Suppressor Protein p53 / genetics*

Substances

TP53 protein, human
Tumor Suppressor Protein p53
Isocitrate Dehydrogenase
IDH1 protein, human