Molecular biomarker-defined brain tumors: Epidemiology, validity, and completeness in the United States.


Journal

Neuro-oncology
ISSN: 1523-5866
Titre abrégé: Neuro Oncol
Pays: England
ID NLM: 100887420

Informations de publication

Date de publication:
02 11 2022
Historique:
pubmed: 24 4 2022
medline: 4 11 2022
entrez: 23 4 2022
Statut: ppublish

Résumé

Selected molecular biomarkers were incorporated into the US cancer registry reporting for patients with brain tumors beginning in 2018. We investigated the completeness and validity of these variables and described the epidemiology of molecularly defined brain tumor types. Brain tumor patients with histopathologically confirmed diagnosis in 2018 were identified within the Central Brain Tumor Registry of the United States and NCI's Surveillance, Epidemiology, and End Results Incidence databases. The brain molecular markers (BMM) site-specific data item was assessed for coding completeness and validity. 1p/19q status, MGMT promoter methylation, WHO grade data items, and new ICD-O-3 codes were additionally evaluated. These data were used to profile the characteristics and age-adjusted incidence rates per 100 000 population of molecularly defined brain tumors with 95% confidence intervals (95% CI). BMM completeness across the applicable tumor types was 75%-92% and demonstrated favorable coding validity. IDH-wildtype glioblastomas' incidence rate was 1.74 (95% CI: 1.69-1.78), as compared to 0.14 for WHO grade 2 (95% CI: 0.12-0.15), 0.15 for grade 3 (95% CI: 0.14-0.16), and 0.07 for grade 4 (95% CI: 0.06-0.08) IDH-mutant astrocytomas. Irrespective of WHO grade, IDH mutation prevalence was highest in adolescent and young adult patients, and IDH-mutant astrocytomas were more frequently MGMT promoter methylated. Among pediatric-type tumors, the incidence rate was 0.06 for H3K27M-mutant diffuse midline gliomas (95% CI: 0.05-0.07), 0.03 for SHH-activated/TP53-wildtype medulloblastomas (95% CI: 0.02-0.03), and <0.01 for both C19MC-altered embryonal tumor with multilayered rosettes and RELA-fusion ependymomas. Our findings illustrate the success of developing a dedicated, integrated diagnosis variable, which provides critical molecular information about brain tumors related to accurate diagnosis.

Sections du résumé

BACKGROUND
Selected molecular biomarkers were incorporated into the US cancer registry reporting for patients with brain tumors beginning in 2018. We investigated the completeness and validity of these variables and described the epidemiology of molecularly defined brain tumor types.
METHODS
Brain tumor patients with histopathologically confirmed diagnosis in 2018 were identified within the Central Brain Tumor Registry of the United States and NCI's Surveillance, Epidemiology, and End Results Incidence databases. The brain molecular markers (BMM) site-specific data item was assessed for coding completeness and validity. 1p/19q status, MGMT promoter methylation, WHO grade data items, and new ICD-O-3 codes were additionally evaluated. These data were used to profile the characteristics and age-adjusted incidence rates per 100 000 population of molecularly defined brain tumors with 95% confidence intervals (95% CI).
RESULTS
BMM completeness across the applicable tumor types was 75%-92% and demonstrated favorable coding validity. IDH-wildtype glioblastomas' incidence rate was 1.74 (95% CI: 1.69-1.78), as compared to 0.14 for WHO grade 2 (95% CI: 0.12-0.15), 0.15 for grade 3 (95% CI: 0.14-0.16), and 0.07 for grade 4 (95% CI: 0.06-0.08) IDH-mutant astrocytomas. Irrespective of WHO grade, IDH mutation prevalence was highest in adolescent and young adult patients, and IDH-mutant astrocytomas were more frequently MGMT promoter methylated. Among pediatric-type tumors, the incidence rate was 0.06 for H3K27M-mutant diffuse midline gliomas (95% CI: 0.05-0.07), 0.03 for SHH-activated/TP53-wildtype medulloblastomas (95% CI: 0.02-0.03), and <0.01 for both C19MC-altered embryonal tumor with multilayered rosettes and RELA-fusion ependymomas.
CONCLUSIONS
Our findings illustrate the success of developing a dedicated, integrated diagnosis variable, which provides critical molecular information about brain tumors related to accurate diagnosis.

Identifiants

pubmed: 35460555
pii: 6573306
doi: 10.1093/neuonc/noac113
pmc: PMC9629432
doi:

Substances chimiques

Biomarkers 0
Isocitrate Dehydrogenase EC 1.1.1.41

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, U.S. Gov't, P.H.S. Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1989-2000

Subventions

Organisme : NCI NIH HHS
ID : K12 CA090354
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA014051
Pays : United States

Commentaires et corrections

Type : ErratumIn

Informations de copyright

Published by Oxford University Press on behalf of the Society for Neuro-Oncology 2022.

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Auteurs

J Bryan Iorgulescu (JB)

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.

Chuxuan Sun (C)

Department of Biostatistics, Duke University School of Medicine, Durham, NC, USA.

Corey Neff (C)

Central Brain Tumor Registry of the United States, Hinsdale, IL, USA.
Department of Neurosurgery, Duke University School of Medicine, Durham, NC, USA.

Gino Cioffi (G)

Central Brain Tumor Registry of the United States, Hinsdale, IL, USA.
Trans Divisional Research Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.

Catherine Gutierrez (C)

Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.

Carol Kruchko (C)

Central Brain Tumor Registry of the United States, Hinsdale, IL, USA.

Jennifer Ruhl (J)

Surveillance, Epidemiology, and End Results program, National Cancer Institute, Bethesda, MD, USA.

Kristin A Waite (KA)

Trans Divisional Research Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.

Serban Negoita (S)

Surveillance, Epidemiology, and End Results program, National Cancer Institute, Bethesda, MD, USA.

Jim Hofferkamp (J)

North American Association of Central Cancer Registries, Springfield, IL, USA.

Tarik Tihan (T)

Division of Neuropathology, Department of Pathology, University of California San Francisco, San Francisco, CA, USA.

Roger McLendon (R)

Department of Pathology, Duke University School of Medicine, Durham, NC, USA.
Duke Cancer Institute, Duke University Medical Center, Durham, NC, USA.

Daniel J Brat (DJ)

Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

Quinn T Ostrom (QT)

Central Brain Tumor Registry of the United States, Hinsdale, IL, USA.
Department of Neurosurgery, Duke University School of Medicine, Durham, NC, USA.
The Preston Robert Tisch Brain Tumor Center, Duke University School of Medicine, Durham, NC, USA.
Duke Cancer Institute, Duke University Medical Center, Durham, NC, USA.

Jill S Barnholtz-Sloan (JS)

Central Brain Tumor Registry of the United States, Hinsdale, IL, USA.
Center for Biomedical Informatics & Information Technology, National Cancer Institute, Bethesda, MD, USA.

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