ORPHA:98849
Systemic mastocytosis with associated hematologic neoplasm
Also known as: SM-AHN · SM-AHNMD · Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Publications
973
91.7th percentile
Trials
1
Interventional, condition-specific
Researchers
1,392
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
An advanced form of systemic mastocytosis (SM) characterized by the abnormal accumulation of neoplastic mast cells (MCs) in one or more extracutaneous organs, mainly the bone marrow, associated with another hematologic neoplasm of non MC nature.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0020332
- UMLS:C1301365
- NCIT:C9284
Additional Mondo synonyms (10)
SMAHN · systemic mastocytosis with an associated haematological neoplasm · systemic mastocytosis with an associated haematological neoplasm (SM-AHN) · systemic mastocytosis with an associated hematological neoplasm · systemic mastocytosis with an associated hematological neoplasm (SM-AHN) · systemic mastocytosis with associated clonal haematological non-mast-cell lineage disease · systemic mastocytosis with associated clonal hematological non-mast cell lineage disease · systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease · systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality) · systemic mastocytosis with associated hematologic neoplasm
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
973 matched papers (657 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 (1 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)
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?
973
973 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=5449) is 41.
973 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).
657 in the last 10 years · high confidence · 91.7th percentile (publications denominator)
Phrase hits: 973 · MeSH hits: 0
Who's working on it?
1,392
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.
- 01Ahn SM25 papers · 2026
Division of Rheumatology, Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Papers in Europe PMC - 02Reiter A21 papers · 2026
Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany.
Papers in Europe PMC - 03Valent P19 papers · 2026
Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, 1090 Vienna, Austria.
Papers in Europe PMC - 04Hermine O18 papers · 2026
French Reference Center for Mastocytosis (CEREMAST), Necker-Enfants Malades University Hospital, APHP, Paris, France.
Papers in Europe PMC - 05Schwaab J16 papers · 2026
Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany. juliana.schwaab@medma.uni-heidelberg.de.
Papers in Europe PMC - 06Gotlib J14 papers · 2026
Stanford Cancer Institute/Stanford University School of Medicine, Stanford, CA.
Papers in Europe PMC - 07Arock M11 papers · 2026
Department of Hematology, APHP, Hôpital Pitié-Salpêtrière and Sorbonne University, 75013 Paris, France.
Papers in Europe PMC - 08Hong S11 papers · 2026
Division of Rheumatology, Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Papers in Europe PMC - 09Kim YG11 papers · 2026
Division of Rheumatology, Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Papers in Europe PMC - 10Lübke J11 papers · 2026
Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany.
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; 1 currently recruiting in our sample. 36 trials are registered for systemic mastocytosis, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
- NCT04996875·RECRUITING·(Apex) Bezuclastinib in Patients With Advanced Systemic Mastocytosis
Conditions: Advanced Systemic Mastocytosis (AdvSM) · SM With an Associated Hematologic Neoplasm (SM-AHN) · Mast Cell Leukemia (MCL) · Aggressive Systemic Mastocytosis (ASM)·Matched via name phrase
Broader category: systemic mastocytosis
36
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
- NCT04910685·RECRUITING·(HARBOR) Study to Evaluate Efficacy and Safety of BLU-263 Versus Placebo in Patients With Indolent Systemic Mastocytosis
Conditions: Indolent Systemic Mastocytosis · Smoldering Systemic Mastocytosis·Matched via name phrase
- NCT06327685·RECRUITING·Avapritinib With Decitabine in Patients With SM-AHN
Conditions: Systemic Mastocytosis With an Associated Hematologic Neoplasm·Matched via name phrase
Observational and natural-history studies
2 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.
None of the matched observational studies is currently listed as recruiting.
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.
"Systemic mastocytosis with associated hematologic neoplasm" OR "SM-AHN" OR "SM-AHNMD" OR "Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease" OR "SMAHN" OR "systemic mastocytosis with an associated haematological neoplasm" OR "systemic mastocytosis with an associated haematological neoplasm (SM-AHN)" OR "systemic mastocytosis with an associated hematological neoplasm" OR "systemic mastocytosis with an associated hematological neoplasm (SM-AHN)" OR "systemic mastocytosis with associated clonal haematological non-mast-cell lineage disease" OR "systemic mastocytosis with associated clonal hematological non-mast cell lineage disease" OR "systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease" OR "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Systemic mastocytosis with associated hematologic neoplasm" OR "SM-AHN" OR "SM-AHNMD" OR "Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease" OR "SMAHN" OR "systemic mastocytosis with an associated haematological neoplasm" OR "systemic mastocytosis with an associated haematological neoplasm (SM-AHN)" OR "systemic mastocytosis with an associated hematological neoplasm" OR "systemic mastocytosis with an associated hematological neoplasm (SM-AHN)" OR "systemic mastocytosis with associated clonal haematological non-mast-cell lineage disease" OR "systemic mastocytosis with associated clonal hematological non-mast cell lineage disease" OR "systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease" OR "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)"
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 · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"systemic mastocytosis"
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 2026-07-27T05:35:12.697Z