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Myxoid glioneuronal tumor, PDGFRA p.K385-mutant: clinical, radiologic, and histopathologic features.

Authors
  • Lucas, Calixto-Hope G1
  • Villanueva-Meyer, Javier E2
  • Whipple, Nicholas3
  • Oberheim Bush, Nancy Ann4, 5
  • Cooney, Tabitha6
  • Chang, Susan4, 5
  • McDermott, Michael7
  • Berger, Mitchel7
  • Cham, Elaine8
  • Sun, Peter P9
  • Putnam, Angelica10
  • Zhou, Hong10
  • Bollo, Robert11
  • Cheshier, Samuel11
  • Poppe, Matthew M12
  • Fung, Kar-Ming13
  • Sung, Sarah14
  • Glenn, Chad15
  • Fan, Xuemo16
  • Bannykh, Serguei16
  • And 15 more
  • 1 Department of Pathology, University of California, San Francisco, CA.
  • 2 Department of Radiology and Biomedical Imaging, University of California, San Francisco, CA.
  • 3 Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Utah, Salt Lake City, UT.
  • 4 Division of Neuro-Oncology, Department of Neurological Surgery, University of California, San Francisco, CA.
  • 5 Department of Neurology, University of California, San Francisco, CA.
  • 6 Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, CA.
  • 7 Department of Neurological Surgery, University of California, San Francisco, CA.
  • 8 Department of Pathology, UCSF Benioff Children's Hospital Oakland, Oakland, CA.
  • 9 Department of Neurosurgery, UCSF Benioff Children's Hospital Oakland, Oakland, CA.
  • 10 Department of Pathology, University of Utah, Salt Lake City, UT.
  • 11 Division of Pediatric Neurosurgery, Department of Neurosurgery, University of Utah, Salt Lake City, UT.
  • 12 Department of Radiation Oncology, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT.
  • 13 Department of Pathology, University of Oklahoma, Oklahoma City, OK.
  • 14 Department of Neurology, Stephenson Cancer Center, University of Oklahoma Health Sciences Center, Oklahoma City, OK.
  • 15 Department of Neurosurgery, Stephenson Cancer Center, University of Oklahoma Health Sciences Center, Oklahoma City, OK.
  • 16 Department of Pathology, Cedars Sinai Medical Center, Los Angeles, CA.
  • 17 Department of Neurology, Cedars Sinai Medical Center, Los Angeles, CA.
  • 18 Department of Neurosurgery, Cedars Sinai Medical Center, Los Angeles, CA.
  • 19 Department of Pathology, Children's Hospital of Alabama, Birmingham, AL.
  • 20 Division of Pediatric Hematology/Oncology, Department of Pediatrics, Children's Hospital of Alabama, Birmingham, AL.
  • 21 Department of Neurosurgery, Children's Hospital of Alabama, Birmingham, AL.
  • 22 Clinical Cancer Genomics Laboratory, University of California, San Francisco, CA.
Type
Published Article
Journal
Brain Pathology
Publisher
Wiley (Blackwell Publishing)
Publication Date
May 01, 2020
Volume
30
Issue
3
Pages
479–494
Identifiers
DOI: 10.1111/bpa.12797
PMID: 31609499
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

"Myxoid glioneuronal tumor, PDGFRA p.K385-mutant" is a recently described tumor entity of the central nervous system with a predilection for origin in the septum pellucidum and a defining dinucleotide mutation at codon 385 of the PDGFRA oncogene replacing lysine with either leucine or isoleucine (p.K385L/I). Clinical outcomes and optimal treatment for this new tumor entity have yet to be defined. Here, we report a comprehensive clinical, radiologic, and histopathologic assessment of eight cases. In addition to its stereotypic location in the septum pellucidum, we identify that this tumor can also occur in the corpus callosum and periventricular white matter of the lateral ventricle. Tumors centered in the septum pellucidum uniformly were associated with obstructive hydrocephalus, whereas tumors centered in the corpus callosum and periventricular white matter did not demonstrate hydrocephalus. While multiple patients were found to have ventricular dissemination or local recurrence/progression, all patients in this series remain alive at last clinical follow-up despite only biopsy or subtotal resection without adjuvant therapy in most cases. Our study further supports "myxoid glioneuronal tumor, PDGFRA p.K385-mutant" as a distinct CNS tumor entity and expands the spectrum of clinicopathologic and radiologic features of this neoplasm. © 2019 International Society of Neuropathology.

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