PATH-38. DISSEMINATED “MYXOID GLIONEURONAL TUMOR, PDGFRA P. K385-MUTANT” IN AN ADOLESCENT MANAGED WITH OBSERVATION AND WITHOUT ANY ADJUVANT THERAPY
Bibliographic record
Abstract
Abstract INTRODUCTION Myxoid glioneuronal tumor, PDGFRA p. K385-mutant (MGNT) is a recently described central nervous system tumor entity typically arising from the septum pellucidum and molecularly defined by mutation of the PDGFRA oncogene. The tumor is clinically benign, can be disseminated at presentation and is managed by surgical resection with or without adjuvant therapy (Chemotherapy / Radiation). CASE REPORT: 16yr old female presented to the children’s emergency with 6-week history of increasing intensity of acute on chronic frontal headaches and single episode of seizure like activity. She did not have nausea, vomiting or any cognitive or visual disturbances. Neurological exam was normal with no evidence of papilledema. Magnetic Resonance imaging (MRI) of the brain showed a large intraventricular mass arising from the right lateral ventricle and the septum pellucidum with dissemination into the periventricular white matter, suprasellar region, right thalamus, genu and splenium of the corpus callosum and multiple foci seen in the inferior aspect of the brain stem involving the pons and medulla. There was no evidence of obstructive hydrocephalus and the spine was normal. After an initial endoscopic biopsy failed molecular testing, she underwent an open biopsy which confirmed the diagnosis of MGNT histologically and NGS testing of the tumor revealed mutation at codon 385 (leucine replacing lysine) in the PDGFRA oncogene (k385l). Since the tumor was disseminated and the headache was controlled with symptomatic treatment, she was managed with regular follow up without surgery, adjuvant chemotherapy or radiation. The patient is doing well at 8 months follow up without any symptoms and stable lesions on the MRI. CONCLUSION Based on our experience and literature review, MGNT with PDGFRA-k385l mutation is a clinically benign tumor even though it can be disseminated at presentation and can be managed conservatively without any adjuvant therapy.
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 imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".