ORPHA:168953
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
Also known as: 8p11 myeloproliferative syndrome · Stem cell leukemia/lymphoma
Publications
305
75.9th percentile
Trials
1
Interventional, condition-specific
Researchers
1,175
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring translocations or insertions involving the chromosome band 8p11 and the FGFR1 gene, in the blood, bone marrow and often other tissues as well (spleen, liver, lymph nodes, breast, etc.). It usually presents as myeloproliferative neoplasm with eosinophilia, T lymphoblastic lymphoma with eosinophilia or, less frequently, acute myeloid leukemia. The presenting signs and symptoms include eosinophilia, leukocytosis with leukemoid reaction, monocytosis, fatigue, sweating, weight loss, lymphadenopathy, and/or . Extranodal involvement may include the tonsils, lungs and breasts.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013296
- OMIM:613523
- UMLS:C3150773
- NCIT:C84277
Additional Mondo synonyms (8)
8p11 stem cell leukemia/lymphoma syndrome · 8p11 stem cell syndrome · chromosome 8p11 myeloproliferative syndrome · myeloid and lymphoid neoplasms associated with FGFR1 abnormalities · myeloid and lymphoid neoplasms with FGFR1 rearrangement · myeloid/lymphoid neoplasm associated with FGFR1 rearrangement · myeloid/lymphoid neoplasms with FGFR1 rearrangement · stem cell leukemia/lymphoma
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
305 matched papers (168 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 trialPresent
1 matched on ClinicalTrials.gov
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?
305
305 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.
305 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).
168 in the last 10 years · high confidence · 75.9th percentile (publications denominator)
Phrase hits: 305 · MeSH hits: 0
Who's working on it?
1,175
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.
- 01
- 02Hu T14 papers · 2026
Georgia Cancer Center, Augusta University, 1410 Laney Walker Blvd, GA, 30912, Augusta, USA. tihu@augusta.edu.
Papers in Europe PMC - 03
- 04
- 05Chen S8 papers · 2024
Department of Surgery, Weill Cornell Medicine, 1300 York Ave, New York, NY 10065, USA. Electronic address: shc2034@med.cornell.edu.
Papers in Europe PMC - 06Chong Y8 papers · 2021
Georgia Cancer Center, Augusta University, 1410 Laney Walker Blvd, GA, 30912, Augusta, USA.
Papers in Europe PMC - 07Cross NC8 papers · 2013Papers in Europe PMC
- 08Liu Y8 papers · 2026
Georgia Cancer Center, Augusta University, 1410 Laney Walker Blvd, GA, 30912, Augusta, USA.
Papers in Europe PMC - 09Li F7 papers · 2025
Department of Hematology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Papers in Europe PMC - 10Zhang X7 papers · 2023
Department of Hematology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
"Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement" OR "8p11 myeloproliferative syndrome" OR "Stem cell leukemia/lymphoma" OR "8p11 stem cell leukemia/lymphoma syndrome" OR "8p11 stem cell syndrome" OR "chromosome 8p11 myeloproliferative syndrome" OR "myeloid and lymphoid neoplasms associated with FGFR1 abnormalities" OR "myeloid and lymphoid neoplasms with FGFR1 rearrangement" OR "myeloid/lymphoid neoplasms with FGFR1 rearrangement"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement" OR "8p11 myeloproliferative syndrome" OR "Stem cell leukemia/lymphoma" OR "8p11 stem cell leukemia/lymphoma syndrome" OR "8p11 stem cell syndrome" OR "chromosome 8p11 myeloproliferative syndrome" OR "myeloid and lymphoid neoplasms associated with FGFR1 abnormalities" OR "myeloid and lymphoid neoplasms with FGFR1 rearrangement" OR "myeloid/lymphoid neoplasms with FGFR1 rearrangement"
Interventional trials matched via: 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: 1 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 2026-07-27T08:32:31.260Z