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ORPHA:363976

Giant cell tumor of bone

low confidenceDisorder

Also known as: GCT of bone · Osteoclastoma

Publications

6,799

Trials

14

Interventional, condition-specific

Researchers

1,476

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare bone sarcoma characterized by a usually benign space-occupying lesion, which is nevertheless locally aggressive and massively damaging to surrounding bone tissue. The tumor is composed of giant multinucleated cells (osteoclast-like cells), mononuclear macrophages, and mononuclear stromal cells which secrete pro-myeloid and pro-osteoclastic factors. Metastasis and malignant transformation are rare, but the recurrence rate is high.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (11)

Osteoclastoma, benign · benign bone giant cell tumor · benign bone giant cell tumour · giant cell tumor of bone · giant cell tumor of bone (morphologic abnormality) · giant cell tumor of bone NOS (morphologic abnormality) · giant cell tumor of the bone · giant cell tumor, benign · giant cell tumour of bone (morphologic abnormality) · giant cell tumour of bone NOS (morphologic abnormality) · giant cell tumour of the bone

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.”

3/6 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

    6,799 matched papers (3,087 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 designationPartial

    1 FDA designation (none yet with FDA orphan-indication approval) — e.g. denosumab Source

  6. Interventional trialPresent

    14 matched on ClinicalTrials.gov (5 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)

1

Designation · no FDA orphan-indication approval yet

  • FDA denosumab (Xgeva)Giant Cell Tumor of Bone · 2010-12-20

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0005674

CTD chemicals (MyDisease.info)

3 associated chemicals · 46 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Alendronate · therapeutic
  • Pamidronate · therapeutic
  • Zoledronic Acid · therapeutic

Pathways: Alcoholism; Transcriptional misregulation in cancer; Systemic lupus erythematosus; Hemostasis; Developmental Biology; Meiosis; Signal Transduction; Cell Cycle

MyDisease.info · MONDO:0005674

Literature

Is anyone studying this?

6,799

6,799 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

6,799 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).

3,087 in the last 10 years · low confidence

Phrase hits: 6,799 · MeSH hits: 132

Open Europe PMC search

Who's working on it?

1,476

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
    Kawai A9 papers · 2026

    Department of Musculoskeletal Oncology and Rehabilitation, National Cancer Center Hospital, 5-1-1, Chuo-Ku, Tokyo, Japan.

    Papers in Europe PMC
  2. 02
    Iwata S7 papers · 2026

    Department of Musculoskeletal Oncology and Rehabilitation, National Cancer Center Hospital, 5-1-1, Chuo-Ku, Tokyo, Japan.

    Papers in Europe PMC
  3. 03
    Ogura K6 papers · 2026

    Department of Musculoskeletal Oncology and Rehabilitation, National Cancer Center Hospital, 5-1-1, Chuo-Ku, Tokyo, Japan. koogura@ncc.go.jp.

    Papers in Europe PMC
  4. 04
    Zhang Y6 papers · 2026

    Department of Radiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei Province, China.

    Papers in Europe PMC
  5. 05
    Kondo T5 papers · 2026

    Division of Rare Cancer Research, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan. takondo@ncc.go.jp.

    Papers in Europe PMC
  6. 06
    Li Y5 papers · 2026

    Department of Bone and Soft Tissue Neurosurgery, Guangxi Medical University Cancer Hospital, Nanning, Guangxi, China.

    Papers in Europe PMC
  7. 07
    Yoshida A5 papers · 2026

    Department of Diagnostic Pathology, National Cancer Centre Hospital, 5-1-1, Tsukiji, Chuo-Ku, Tokyo, 104-0045, Japan. akyoshid@ncc.go.jp.

    Papers in Europe PMC
  8. 08
    Zhang J5 papers · 2026

    Department of Orthopaedics, 72nd Group Army Hospital, Huzhou University, Huzhou, Zhejiang, China. 1778372358@qq.com.

    Papers in Europe PMC
  9. 09
    Akiyama T4 papers · 2026

    Saitama Medical Center, JIchi Medical University, Saitama, Japan.

    Papers in Europe PMC
  10. 10
    Kobayashi E4 papers · 2026

    Department of Musculoskeletal Oncology and Rehabilitation, National Cancer Center Hospital, 5-1-1, Chuo-Ku, Tokyo, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

14

interventional trials for this specific condition

14 interventional trials matched this specific condition name; 5 currently recruiting in our sample.

Data as of 11 September 2026

14 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.7th percentile).

low confidence · 93.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

6 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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)

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 Giant cell tumor of bone — 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.

"Giant cell tumor of bone" OR "Giant cell tumor of the bone" OR "GCT of bone" OR "GCT of the bone" OR "Osteoclastoma" OR "Osteoclastoma, benign" OR "benign bone giant cell tumor" OR "benign bone giant cell tumour" OR "giant cell tumor of bone (morphologic abnormality)" OR "giant cell tumor of the bone (morphologic abnormality)" OR "giant cell tumor of bone NOS (morphologic abnormality)" OR "giant cell tumor of the bone NOS (morphologic abnormality)" OR "giant cell tumor, benign" OR "giant cell tumour of bone (morphologic abnormality)" OR "giant cell tumour of the bone (morphologic abnormality)" OR "giant cell tumour of bone NOS (morphologic abnormality)" OR "giant cell tumour of the bone NOS (morphologic abnormality)" OR "giant cell tumour of the bone" OR "giant cell tumour of bone"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Giant Cell Tumor of Bone

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

"Giant cell tumor of bone" OR "Giant cell tumor of the bone" OR "GCT of bone" OR "GCT of the bone" OR "Osteoclastoma" OR "Osteoclastoma, benign" OR "benign bone giant cell tumor" OR "benign bone giant cell tumour" OR "giant cell tumor of bone (morphologic abnormality)" OR "giant cell tumor of the bone (morphologic abnormality)" OR "giant cell tumor of bone NOS (morphologic abnormality)" OR "giant cell tumor of the bone NOS (morphologic abnormality)" OR "giant cell tumor, benign" OR "giant cell tumour of bone (morphologic abnormality)" OR "giant cell tumour of the bone (morphologic abnormality)" OR "giant cell tumour of bone NOS (morphologic abnormality)" OR "giant cell tumour of the bone NOS (morphologic abnormality)" OR "giant cell tumour of the bone" OR "giant cell tumour of bone"

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

Study-type breakdown: 14 interventional · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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
  • Publication count (6799) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T14:45:07.684Z