Myxoid glioneuronal tumor of the septum pellucidum and lateral ventricle is defined by a recurrent PDGFRA p.K385 mutation and DNT-like methylation profile

David A Solomon; Andrey Korshunov; Martin Sill; David T W Jones; Marcel Kool; Stefan M Pfister; Xuemo Fan; Serguei Bannykh; Jethro Hu; Moise Danielpour; Rong Li; James Johnston; Elaine Cham; Tabitha Cooney; Peter P Sun; Nancy Ann Oberheim Bush; Michael McDermott; Jessica Van Ziffle; Courtney Onodera; James P Grenert; Boris C Bastian; Javier E Villanueva-Meyer; Melike Pekmezci; Andrew W Bollen; Arie Perry

doi:10.1007/s00401-018-1883-2

Myxoid glioneuronal tumor of the septum pellucidum and lateral ventricle is defined by a recurrent PDGFRA p.K385 mutation and DNT-like methylation profile

Acta Neuropathol. 2018 Aug;136(2):339-343. doi: 10.1007/s00401-018-1883-2. Epub 2018 Jul 13.

Authors

David A Solomon^{1

2}, Andrey Korshunov^{3

4}, Martin Sill^{5

6

7}, David T W Jones^{5

6}, Marcel Kool^{5

6}, Stefan M Pfister^{5

6

7}, Xuemo Fan⁸, Serguei Bannykh⁸, Jethro Hu⁹, Moise Danielpour¹⁰, Rong Li¹¹, James Johnston¹², Elaine Cham¹³, Tabitha Cooney¹⁴, Peter P Sun¹⁵, Nancy Ann Oberheim Bush¹⁶, Michael McDermott¹⁷, Jessica Van Ziffle^{18

19}, Courtney Onodera^{18

19}, James P Grenert^{18

19}, Boris C Bastian^{18

19}, Javier E Villanueva-Meyer²⁰, Melike Pekmezci¹⁸, Andrew W Bollen¹⁸, Arie Perry^{18

17}

Affiliations

¹ Department of Pathology, University of California, San Francisco, CA, USA. david.solomon@ucsf.edu.
² Clinical Cancer Genomics Laboratory, University of California, San Francisco, CA, USA. david.solomon@ucsf.edu.
³ Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany.
⁴ Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁵ Hopp Children's Cancer Center at the NCT Heidelberg (KiTZ), Heidelberg, Germany.
⁶ Division of Pediatric Neuro-Oncology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁷ Department of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany.
⁸ Department of Pathology, Cedars Sinai Medical Center, Los Angeles, CA, USA.
⁹ Department of Neurology, Cedars Sinai Medical Center, Los Angeles, CA, USA.
¹⁰ Department of Neurosurgery, Cedars Sinai Medical Center, Los Angeles, CA, USA.
¹¹ Department of Pathology, Children's Hospital of Alabama, Birmingham, AL, USA.
¹² Department of Neurosurgery, Children's Hospital of Alabama, Birmingham, AL, USA.
¹³ Department of Pathology, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
¹⁴ Department of Hematology/Oncology, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
¹⁵ Department of Neurological Surgery, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
¹⁶ Division of Neuro-Oncology, Department of Neurological Surgery, University of California, San Francisco, CA, USA.
¹⁷ Department of Neurological Surgery, University of California, San Francisco, CA, USA.
¹⁸ Department of Pathology, University of California, San Francisco, CA, USA.
¹⁹ Clinical Cancer Genomics Laboratory, University of California, San Francisco, CA, USA.
²⁰ Department of Radiology and Biomedical Imaging, University of California, San Francisco, CA, USA.

No abstract available

Publication types

Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Child
DNA Methylation / genetics*
DNA Modification Methylases / genetics
DNA Repair Enzymes / genetics
Female
Glioma / genetics
Glioma / metabolism
Glioma / pathology
Humans
Lateral Ventricles / diagnostic imaging
Lateral Ventricles / pathology*
Lysine / genetics
Magnetic Resonance Imaging
Male
Mutation / genetics*
Neoplasms, Neuroepithelial / diagnostic imaging
Neoplasms, Neuroepithelial / genetics*
Neoplasms, Neuroepithelial / pathology*
Receptor, Platelet-Derived Growth Factor alpha / genetics*
Septum Pellucidum / diagnostic imaging
Septum Pellucidum / pathology*
Tumor Suppressor Proteins / genetics
Young Adult

Substances

Tumor Suppressor Proteins
DNA Modification Methylases
MGMT protein, human
Receptor, Platelet-Derived Growth Factor alpha
DNA Repair Enzymes
Lysine

Publication types

MeSH terms

Substances

Grants and funding