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An SRF-Rearranged Malignant Cellular Myoid Neoplasm with a Novel SRF-MKL2 Fusion: A Case Report

2023· preprint· en· W4385954601 on OpenAlexafffund
Craig Erker, Cameron Crowell, Erica Schollenberg, Thai Hoa Tran, David J. Wilson, Michael Bezuhly, Daddy Mata‐Mbemba, Cristina R. Antonescu

Bibliographic record

Venuenot available
Typepreprint
Languageen
FieldMedicine
TopicSarcoma Diagnosis and Treatment
Canadian institutionsCentre Hospitalier Universitaire Sainte-JustineIzaak Walton Killam Health Centre
FundersTerry Fox Research Institute
KeywordsHistologyImmunohistochemistryPathologyNeoplasmSarcomaSoft tissueMedicineBiology

Abstract

fetched live from OpenAlex

10-20% of soft tissue sarcomas cannot be accurately classified with histology and immunohistochemistry (IHC) and require further molecular investigation. We report an unclassified myoid neoplasm in a 5-year-old girl presenting with localized left heel swelling and impaired weight-bearing. Histology and IHC determined this as an undifferentiated sarcoma. Molecular work-up of this soft-tissue lesion demonstrated a novel SRF-MKL2 fusion as well as chromosomal copy number anomalies including 1p, 6q, 22 loss, and 1q gain. Pathologic and molecular features of this tumor fit best in the SRF-rearranged family of cellular myoid tumors. The patient remains disease-free 20 months after margin-negative resection.

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)0.000
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: Case report
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.005
Threshold uncertainty score0.009

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.002
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.001
Science and technology studies0.0020.002
Scholarly communication0.0020.002
Open science0.0010.001
Research integrity0.0050.002
Insufficient payload (model declined to judge)0.0030.002

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 head0.052
GPT teacher head0.300
Teacher spread0.248 · 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 designCase report
Domainnot available
GenreEmpirical

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

Citations0
Published2023
Admission routes2
Has abstractyes

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