ORPHA:168953
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
Also known as: 8p11 myeloproliferative syndrome · Stem cell leukemia/lymphoma
Publications
305
65.2th 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 found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
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
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
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=3967) is 59.
305 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).
168 in the last 10 years · high confidence · 65.2th 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 11 September 2026
1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).
high confidence · 80.1th 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.
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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)
- isrctn·ISRCTN61498391·No longer recruiting·Effects of evidence-based exercise on body composition, physical fitness, and recovery-related parameters in Hematopoietic Stem Cell Transplantation Patients
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN47102251·No longer recruiting·Antibiotic-lock technique with Taurolidine for prevention of central venous catheter infection in neutropenic patients
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN00446029·No longer recruiting·Treatment of acute lymphoblastic leukemia (ALL) in adults age 40 - 70 years inclusive with chemotherapy including a "pre-induction course" for rapid tumor load reduction and prolonged maintenance chemotherapy
skipped — LLM skipped (--skip-llm)
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 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement — check Associations / patient organisations on that page.
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