Phenotype expansion
Signs & symptoms
1 supporting source
confidence 97%
novelty 90%
New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic syncytial giant cells, which was observed only in one additional case of paediatric cholestatic liver disease of unknown origin.”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.
Generated 2026-11-13, last changed
today. Dedup key expansion:263873.
The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.
Evidence (1 quote)
New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome?
peer_reviewed
· published 2022-12-01
· live page
Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic syncytial giant cells, which was observed only in one additional case of paediatric cholestatic liver disease of unknown origin.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| New case of syncytial giant-cell variant of hepatocellular carcinom... | pubmed | 2022-12-01 | yesterday | 1.00 |