TBIO-25. CHOROID PLEXUS PAPILLOMAS IN FAMILIES WITH DICER1 MUTATION ASSOCIATED DISEASE
Bibliographic record
Abstract
Choroid plexus tumors are rare intraventricular neoplasms, which can be divided into choroid plexus papillomas (CPP, WHO grade I), atypical choroid plexus papillomas (aCPP, WHO grade II) and malignant choroid plexus carcinomas (CPC, WHO grade III). While CPC are often associated with TP53 germline mutations, only little is known on the etiology of sporadic and rare familial CPP. Recently, the report of a child concurrently harboring aCPP and pleuropulmonary blastoma, a childhood neoplasia strongly associated with DICER1 mutations, was published. Similarly, in a second kindred affected by familial goiter (also a DICER1 associated disorder), a child harboring CPP and goiter was encountered. In order to identify underlying genetic alterations and molecular mechanisms, these families were further examined. In both families, no DICER1 germline alterations could be detected. Examination of the pleuropulmonary blastoma of the first child yielded two different somatic DICER1 mutations and there was no indication of a mosaic DICER1 mutation on digital droplet PCR assay performed on blood, normal lung, two different pleuropulmonary blastoma samples and the CPP. Results from whole exome sequencing, which was performed on DNA from peripheral blood leukocytes and tumor samples in comparison to 24 archival sporadic choroid plexus tumors are pending. Our results are expected to shed light on the etiology of CPP in these families, but may also have implications for sporadic CPP.
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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 | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.006 | 0.001 |
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".