ORPHA:319487
Familial papillary or follicular thyroid carcinoma
Also known as: FNMTC · Familial pure nonmedullary thyroid carcinoma
Publications
410
80.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,110
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Familial papillary or follicular thyroid carcinoma is a rare, nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017895
- UMLS:C5191836
- NCIT:C118829
Additional Mondo synonyms (2)
familial nonmedullary thyroid gland carcinoma · familial pure nonmedullary thyroid carcinoma
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
410 matched papers (228 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
410
410 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
410 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
228 in the last 10 years · high confidence · 80.7th percentile (publications denominator)
Phrase hits: 410 · MeSH hits: 0
Who's working on it?
1,110
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Castagna MG10 papers · 2026
Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
Papers in Europe PMC - 02Kebebew E9 papers · 2021
2 Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health , Bethesda, Maryland.
Papers in Europe PMC - 03Cantara S8 papers · 2022
Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
Papers in Europe PMC - 04Cavaco BM8 papers · 2025
Unidade de Investigação em Patobiologia Molecular (UIPM), Instituto Português de Oncologia de Lisboa Francisco Gentil (IPOLFG), 1099-023 Lisboa, Portugal.
Papers in Europe PMC - 05Leite V8 papers · 2025
Unidade de Investigação em Patobiologia Molecular (UIPM), Instituto Português de Oncologia de Lisboa Francisco Gentil (IPOLFG), 1099-023 Lisboa, Portugal.
Papers in Europe PMC - 06Capezzone M7 papers · 2024
Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
Papers in Europe PMC - 07Bonora E6 papers · 2021
Unit of Medical Genetics Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Papers in Europe PMC - 08Liu Y6 papers · 2026
Department of Thyroid and Neck Tumors, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center of Cancer, Key Laboratory of Cancer Prevention and Therapy, Tianjin 300060, China.
Papers in Europe PMC - 09Maino F6 papers · 2026
Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
Papers in Europe PMC - 10Forleo R5 papers · 2022
Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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.
"Familial papillary or follicular thyroid carcinoma" OR "FNMTC" OR "Familial pure nonmedullary thyroid carcinoma" OR "familial nonmedullary thyroid gland carcinoma"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial papillary or follicular thyroid carcinoma" OR "FNMTC" OR "Familial pure nonmedullary thyroid carcinoma" OR "familial nonmedullary thyroid gland carcinoma"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T13:28:09.938Z