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ORPHA:401920

Fibrolamellar hepatocellular carcinoma

low confidenceDisorder

Also known as: FHCC · Fibrolamellar hepatocarcinoma

Publications

2,430

Trials

21

Interventional, condition-specific

Researchers

1,387

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare variant of hepatocellular carcinoma (HCC) presenting in adolescents or young adults with no underlying liver disease. Clinical presentation is non specific, with abdominal mass, abdominal discomfort or pain, fatigue and weight loss. Patients can also be asymptomatic. HCC markers (alpha fetoprotein) are normal. Fibrolamellar HCC presents as a unique, well-delimited mass at imagery and a biopsy confirms the diagnosis, showing well-differentiated tumor cells surrounded by thick collagen bands.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (13)

FLC · fibrolamellar cancer · fibrolamellar carcinoma · fibrolamellar carcinoma of liver cells · fibrolamellar carcinoma of the liver cells · fibrolamellar hepatocarcinoma · fibrolamellar hepatocellular carcinoma · hepatocellular carcinoma, fibrolamellar · hepatocellular fibrolamellar carcinoma · liver cell fibrolamellar carcinoma · oncocytic hepatocellular tumor · oncocytic hepatocellular tumour · polygonal cell type hepatocellular carcinoma with fibrous Stroma

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

2/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,430 matched papers (1,448 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    21 matched on ClinicalTrials.gov (10 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

22

Drugs / clinical candidates · MONDO_0006210

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,430

2,430 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,430 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,448 in the last 10 years · low confidence

Phrase hits: 2,430 · MeSH hits: 30

Open Europe PMC search

Who's working on it?

1,387

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Sethupathy P14 papers · 2026

    Department of Biomedical Sciences, College of Veterinary Medicine, Cornell University, Ithaca, NY, USA. Electronic address: pr46@cornell.edu.

    Papers in Europe PMC
  2. 02
    Farghli AR10 papers · 2026

    Department of Biomedical Sciences, College of Veterinary Medicine, Cornell University, Ithaca, NY, USA.

    Papers in Europe PMC
  3. 03
    Vakili K10 papers · 2026

    Boston Children's Hospital and Harvard Medical School, Department of Surgery, Boston, MA, USA.

    Papers in Europe PMC
  4. 04
    Yarchoan M10 papers · 2026

    Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Bloomberg-Kimmel Institute for Cancer Immunotherapy, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

    Papers in Europe PMC
  5. 05
    Gujral TS9 papers · 2026

    Division of Human Biology, Fred Hutchinson Cancer Center, Seattle, WA, USA.

    Papers in Europe PMC
  6. 06
    Simon SM9 papers · 2026

    Laboratory of Cellular Biophysics, The Rockefeller University, 1230 York Avenue, New York, NY 10065, USA.

    Papers in Europe PMC
  7. 07
    Gordan JD8 papers · 2026

    Gastrointestinal Oncology, University of California at San Francisco Comprehensive Cancer Center, San Francisco, CA, USA.

    Papers in Europe PMC
  8. 08
    Baretti M7 papers · 2026

    The Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins University School of Medicine, Baltimore, MD 21231, USA.

    Papers in Europe PMC
  9. 09
    Nukaya M7 papers · 2026

    Department of Surgery, Division of Surgical Oncology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, United States of America.

    Papers in Europe PMC
  10. 10
    O'Neill AF7 papers · 2026

    Dana-Farber Cancer Institute/Boston Children's Cancer and Blood Disorders Center and Harvard Medical School, Department of Pediatric Oncology, Boston, MA, USA. Electronic address: allison_oneill@dfci.harvard.edu.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

21

interventional trials for this specific condition

21 interventional trials matched this specific condition name; 10 currently recruiting in our sample. 2,346 trials are registered for hepatocellular carcinoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

21 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95th percentile).

low confidence · 95th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

21 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: hepatocellular carcinoma

2,346

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

4 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 7 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (6)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Fibrolamellar hepatocellular carcinoma — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Fibrolamellar hepatocellular carcinoma" OR "Fibrolamellar hepatocarcinoma" OR "fibrolamellar cancer" OR "fibrolamellar carcinoma" OR "fibrolamellar carcinoma of liver cells" OR "fibrolamellar carcinoma of the liver cells" OR "hepatocellular carcinoma, fibrolamellar" OR "hepatocellular fibrolamellar carcinoma" OR "liver cell fibrolamellar carcinoma" OR "oncocytic hepatocellular tumor" OR "oncocytic hepatocellular tumour" OR "polygonal cell type hepatocellular carcinoma with fibrous Stroma"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Fibrolamellar hepatocellular carcinoma

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Fibrolamellar hepatocellular carcinoma" OR "Fibrolamellar hepatocarcinoma" OR "fibrolamellar cancer" OR "fibrolamellar carcinoma" OR "fibrolamellar carcinoma of liver cells" OR "fibrolamellar carcinoma of the liver cells" OR "hepatocellular carcinoma, fibrolamellar" OR "hepatocellular fibrolamellar carcinoma" OR "liver cell fibrolamellar carcinoma" OR "oncocytic hepatocellular tumor" OR "oncocytic hepatocellular tumour" OR "polygonal cell type hepatocellular carcinoma with fibrous Stroma"

Interventional trials matched via: both, phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 21 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hepatocellular carcinoma"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FHCC; FLC

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2430) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T15:27:47.407Z