RARE DISEASERESEARCH ATLAS

ORPHA:100020

Myelodysplastic neoplasm with increased blasts type 2

low confidence

Also known as: MDS-IB2 · RAEB-2 · Refractory anemia with excess blasts type 2

Clinical definition (Orphanet)

A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage , 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.

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

Orphanet entry

Is anyone studying this?

1,433

1,433 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=183) is 38.

1,433 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).

841 in the last 10 years · low confidence

Is a treatment being tested?

1,238

trials for this specific condition

1,238 interventional trials matched this specific condition name; 171 currently recruiting in our sample.

Data as of 26 July 2026

1,238 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 99.8th percentile).

low confidence · 99.8th percentile (trials denominator)

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.

Who's working on it?

1,864

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
    Zhang Y14 papers · 2026

    Department of Hematology, Nanfang Hospital, Southern Medical University, Guangzhou, China.

    Papers in Europe PMC
  2. 02
    Wang Y12 papers · 2026

    Department of Hematology, Affiliated Hospital of Guizhou Medical University, Guiyang, China.

    Papers in Europe PMC
  3. 03
    Haferlach T8 papers · 2026

    MLL Munich Leukemia Laboratory, Munich, Germany.

    Papers in Europe PMC
  4. 04
    Liu Y7 papers · 2026

    Clinical Research Center, The First Affiliated Hospital of Guizhou University of Traditional Chinese Medicine, Guiyang, China.

    Papers in Europe PMC
  5. 05
    Meggendorfer M6 papers · 2026

    MLL Munich Leukemia Laboratory, Munich, Germany.

    Papers in Europe PMC
  6. 06
    Park S6 papers · 2026

    Univ. Grenoble Alpes, CNRS, Inserm, CHU Grenoble Alpes, IAB, Grenoble, France.

    Papers in Europe PMC
  7. 07
    Wang H6 papers · 2025

    Department of Hematology, Xuanwu Hospital, Capital Medical University , ,

    Papers in Europe PMC
  8. 08
    Chen Y5 papers · 2026

    Department of Hematology, Nanfang Hospital, Southern Medical University, Guangzhou, China.

    Papers in Europe PMC
  9. 09
    Germing U5 papers · 2026

    Department of Hematology, Oncology, and Clinical Immunology, Heinrich-Heine-University, University Clinic, Düsseldorf, Germany.

    Papers in Europe PMC
  10. 10
    Kern W5 papers · 2026

    MLL Munich Leukemia Laboratory, Munich, Germany.

    Papers in Europe PMC

Recruiting interventional trials

Trials testing a treatment from the matched ClinicalTrials.gov set

1,238 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

141 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

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 2026-07-26

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 below but are not added to the query string.

"Myelodysplastic neoplasm with increased blasts type 2" OR "MDS-IB2" OR "RAEB-2" OR "Refractory anemia with excess blasts type 2" OR "MDS-EB-2" OR "RAEB-II" OR "myelodysplastic syndrome with Excess blasts-2"

Run this search on Europe PMC

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

"Myelodysplastic neoplasm with increased blasts type 2" OR "MDS-IB2" OR "RAEB-2" OR "Refractory anemia with excess blasts type 2" OR "MDS-EB-2" OR "RAEB-II" OR "myelodysplastic syndrome with Excess blasts-2" OR "myelodysplastic syndrome with excess blasts" OR "myelodysplastic syndrome" OR "hematopoietic and lymphoid cell neoplasm"

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: 1238 interventional · 141 observational · 5 expanded access. Only interventional studies enter the trial headline.

Cross-references (from Mondo): UMLS:C4704767 NCIT:C7168

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 (1433) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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