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Record W3112056129 · doi:10.1093/neuonc/noaa222.570

MBRS-66. COST-EFFECTIVE METHOD TO INCORPORATE MOLECULAR CLASSIFICATION OF MEDULLOBLASTOMA INTO A LATIN-AMERICAN CLINICAL TRIAL

2020· article· en· W3112056129 on OpenAlexaff
Sidnei Epelman, Luís Carlos Sakamoto, Juliana Monte Real, Vijay Ramaswamy, Simone dos Santos Aguiar, Flavia Caldeira Queiroz

Bibliographic record

VenueNeuro-Oncology · 2020
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCancer Genomics and Diagnostics
Canadian institutionsHospital for Sick Children
Fundersnot available
KeywordsMedulloblastomaWnt signaling pathwayMonosomyImmunohistochemistryInternal medicineFluorescence in situ hybridizationOncologyCancer researchHistogenesisMedicineBiologyPathologyBioinformaticsGeneGeneticsKaryotype

Abstract

fetched live from OpenAlex

Abstract BACKGROUND It is now widely accepted that medulloblastoma actually comprises four distinct molecular subgroups, requiring specific treatment strategies. Implementing routine subgrouping in a time and cost effective manner is a major challenge in Latin America, particularly the development of molecular informed clinical trials. Herein we describe the feasibility of reliable and rapid molecular stratification using a qPCR method integrated with immunohistochemistry (IHC) and fluorescent in situ hybridization (FISH – c-myc, monosomy 6) from heterogeneously fixed, low-quality FFPE samples across Latin America. RESULTS Fifty-four FFPE samples were classified according to histologic and molecular criteria. Classic medulloblastoma was found in 53.7%, desmoplastic/extensive nodularity in 24.1%, NOS in 16,7% and anaplastic in 5,6%. IHC markers classified patients in three groups (WNT, SHH and non-WNT/non-SHH) in 98% of cases. PCR-based method confirmed results from IHC in 81,5%. Additionally, we were able to detect WNT activation in 2 patients, previously classified as SHH. For both cases, the presence of monosomy 6 further confirmed WNT subgroup. Integration of these three techniques resulted in the following frequencies: WNT (13.0%), SHH (38.9%), group 3 (9.3%), group 4 (20.3%) and non-WNT/non-SHH (18.5%). From 40 patients with clinical information available, 3-year overall survival (n=40) for low, intermediate and high-risk groups were 100%, 60% and 20%, respectively (p<0.05), based only in molecular criteria, which confirmed the prognostic importance of this method. CONCLUSIONS At an estimated cost of $220 per patient, we are able to implement central molecular diagnosis for the incorporation into a prospective clinical trial protocol in Latin America.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.012
metaresearch head score (Gemma)0.011
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Methods · Consensus signal: none
Teacher disagreement score0.016
Threshold uncertainty score0.065

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0120.011
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0160.002

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.049
GPT teacher head0.391
Teacher spread0.342 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
Domainnot available
GenreMethods

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations1
Published2020
Admission routes1
Has abstractyes

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