Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma
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KBTBD4 mutations occur almost exclusively in G3/G4-2 and G3/G4-7 medulloblastomas and have been observed in pediatric and adult cases of pineal parenchymal tumors of intermediate differentiation.
“These mutations occur almost exclusively in G3/G4-2 and G3/G4-7 medulloblastomas and have been observed in pediatric and adult cases of pineal parenchymal tumors of intermediate differentiation (23–25).”
From The Medulloblastoma Meta-Analysis Portal Enables Integrative Exploration of Clinical and Genomic Data from Patients (2025) · cites this paper as [24]
The paper’s main text reports KBTBD4 insertions in all three PPTID tumors studied and describes similar insertions in a subset of Group 3 and Group 4 medulloblastomas (page not provided). It does not identify the G3/G4-2 or G3/G4-7 subgroups or establish that the mutations occur almost exclusively in them. The text says PPTIDs typically occur later in life, but does not give the ages of the three patients with KBTBD4-mutant PPTID, so it does not establish both pediatric and adult cases. (LLM, conf=0.86)
Experimental — accuracy not yet measuredThe most prevalent KBTBD4 mutation, R313insPRR, has been functionally characterized as enabling interaction with neosubstrates such as small corepressor coREST.
“The most prevalent mutation, an insertion at R313insPRR (7, 23–26), has been functionally characterized as enabling interaction with neosubstrates, such as small corepressor coREST.”
From The Medulloblastoma Meta-Analysis Portal Enables Integrative Exploration of Clinical and Genomic Data from Patients (2025) · cites this paper as [24]
The paper’s main text (page not provided) reports the p.R313delinsPRR insertion in all three PPTID tumors studied. It does not report an interaction with coREST or other neosubstrates; instead, it says the functional mechanism was uncertain and required future study. The finding in three tumors also does not establish that this is the most prevalent KBTBD4 mutation overall. (LLM, conf=0.89)
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Cites
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- Authors
- Lee, J. C., Mazor, T., Lao, R., Wan, E., Diallo, A. B., Hill, N. S., Thangaraj, N., Wendelsdorf, K., Samuel, D., Kline, C. N., Banerjee, A., Auguste, K., Raffel, C., Gupta, N., Berger, M., Raleigh, D. R., Shai, A., Phillips, J. J., Bollen, A. W., Tihan, T., Perry, A., Costello, J., & Solomon, D. A.
- Affiliations
- University of California, San Francisco (US)
- DNAnexus (United States) (US)
- Children's Hospital Central California (US)
- Corresponding author
- Solomon, David A.
- ORCID
- Venue
- Acta Neuropathologica
- Published
- 2019-03-14
- Volume
- 137
- Issue
- 5
- Pages
- 851-854
- ISSN
- 0001-6322 (ISSN-L)
- 1432-0533
- PMC
- PMC6483828
- OpenAlex
- W2921385529
- Cited by
- 71
- References
- 7
- Citations by year
- 2026: 6 · 2025: 13 · 2024: 8 · 2023: 10 · 2022: 10 · 2021: 7 · 2020: 6 · 2019: 9
- FWCI
- 4.39
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Acta Neuropathologica (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- NIH Office of the Director (DP5 OD021403)
- Topics
- Health Sciences › Medicine › Genetics › Glioma Diagnosis and Treatment
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Sarcoma Diagnosis and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Keywords
- pineal parenchymal tumor of intermediate differentiation, pineoblastoma, DICER1 mutation, differential diagnosis, recurrent mutations, pediatric brain tumors
- MeSH terms
- Adolescent, Adult, Brain, Brain Neoplasms, Carrier Proteins, Child, Diagnosis, Differential, Female, Humans, Infant, Male, Middle Aged, Mutation, Pineal Gland, Pinealoma, Biomarkers, Tumor, Cohort Studies, Ribonuclease III, DEAD-box RNA Helicases
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