Concurrent high-grade glioma with cavernous malformations and pathogenic variants in PDCD10 and SMARCA4

Hannah Glanz; Sudarshawn N Damodharan; Kelcy Smith-Simmer; Jeffrey Helgager; Diane Puccetti

doi:10.1007/s00381-023-06026-8

Concurrent high-grade glioma with cavernous malformations and pathogenic variants in PDCD10 and SMARCA4

Childs Nerv Syst. 2023 Nov;39(11):3311-3315. doi: 10.1007/s00381-023-06026-8. Epub 2023 Jun 16.

Authors

Hannah Glanz^#¹, Sudarshawn N Damodharan^#², Kelcy Smith-Simmer³, Jeffrey Helgager⁴, Diane Puccetti⁵

Affiliations

¹ Department of Pediatrics, School of Medicine & Public Health, University of Wisconsin, Madison, WI, USA.
² Division of Pediatric Hematology, Oncology and Bone Marrow Transplant, Department of Pediatrics, School of Medicine & Public Health, University of Wisconsin, UW Carbone Cancer Center, 600 Highland Ave, Madison, WI, 53792, USA. sdamodharan@uwhealth.org.
³ Master of Genetic Counselor Studies, Department of Pediatrics, School of Medicine & Public Health, University of Wisconsin, UW Carbone Cancer Center, Madison, WI, USA.
⁴ Department of Pathology, School of Medicine & Public Health, University of Wisconsin, Madison, WI, USA.
⁵ Division of Pediatric Hematology, Oncology and Bone Marrow Transplant, Department of Pediatrics, School of Medicine & Public Health, University of Wisconsin, UW Carbone Cancer Center, 600 Highland Ave, Madison, WI, 53792, USA.

^# Contributed equally.

PMID: 37328659
DOI: 10.1007/s00381-023-06026-8

Abstract

The co-occurrence of multiple disease processes can pose diagnostic challenges. We report an unusual case of a patient found to have co-occurrences of an IDH1-mutant high-grade glioma along with cerebral cavernous malformations and pathogenic germline variants in PDCD10 and SMARCA4. Somatic testing was done on the tumor and identified a SMARCA4 and two TP53 variants. Within the literature, little is known about the association of high-grade gliomas with these germline variants. Such findings furthermore not only inform complex diagnoses, but have the potential to play a crucial role in the ongoing care of a patient.

Keywords: Cavernous malformations; Genetic variants; High-grade glioma; IDH1; SMARCA4.

Publication types

Case Reports

MeSH terms

Apoptosis Regulatory Proteins / genetics
Brain Neoplasms* / complications
Brain Neoplasms* / diagnostic imaging
Brain Neoplasms* / genetics
DNA Helicases / genetics
Germ-Line Mutation
Glioma* / complications
Glioma* / diagnostic imaging
Glioma* / genetics
Humans
Isocitrate Dehydrogenase / genetics
Membrane Proteins / genetics
Mutation / genetics
Nuclear Proteins / genetics
Proto-Oncogene Proteins / genetics
Transcription Factors / genetics

Substances

Isocitrate Dehydrogenase
SMARCA4 protein, human
DNA Helicases
Nuclear Proteins
Transcription Factors
PDCD10 protein, human
Membrane Proteins
Proto-Oncogene Proteins
Apoptosis Regulatory Proteins