8q Deletion in MYCN-amplified Neuroblastoma of a Child Born From Assisted Reproductive Technology
Bibliographic record
Abstract
The occurrence of pediatric cancer in children born from assisted reproductive technologies has been sporadically reported. Chromosomal characterization of the neoplasic disease in this setting is poorly described. In the present study, neuroblastoma cells from a 13-month-old infant boy born after intracytoplasmatic sperm injection were characterized by combining conventional cytogenetics, fluorescence in situ hybridization (FISH), comparative genomic hybridization, and quantitative polymerase chain reaction methods. Cytogenetic analysis of neuroblastoma (NB) metaphase spreads at the time of diagnosis revealed numerous centromere-free extrachromosomal double minutes, suggesting high MYCN amplification. Comparative genomic hybridization analysis demonstrated the amplification of 2q24 approximately pter, with additional gain of the long arm of chromosome 17. Chromosome losses involved 8q, 9q, and 11q. No deletion of 1p was found. MYCN amplification was confirmed by quantitative polymerase chain reaction and fluorescence in situ hybridization analysis. This report describes several chromosomal abnormalities that were present in NB of a child born after intracytoplasmatic sperm injection. Besides some well described and prognostic genetic findings in NB as MYCN amplification, gain on 17q and losses on 9q and 11q23, we report an unusual deletion involving 8q region in this disease. Whether this genetic abnormality may be associated to assisted reproductive technologies deserves further investigation.
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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) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 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".