Molecular Subtype
Hematologic Neoplasm with Germline RUNX1 Mutation
CI-CAN-00005470Explore in graph →
Hematologic
- NCIt
- C151903
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Molecular Subtype
CI-CAN-00005470Explore in graph →
Data completeness0 / 7 dimensions
Computed from entity_counters.completeness · refreshed after each connector run
Definition
An autosomal dominant syndrome characterized by abnormalities in platelet number and function and enhanced risk of developing myelodysplastic syndrome/acute myeloid leukemia at a young age. Patients have germline monoallelic mutations in RUNX1 gene. The clinical presentation is variable, even within the same family. Most affected individuals have a mild to moderate bleeding tendency. Platelet counts are normal or mildly reduced, with normal platelet morphology and variable degrees of platelet dysfunction. Distinct families with germline RUNX1 mutations exhibit varying risks of development of myeloid neoplasms with 11-100% (median: 44%) of family members affected. (WHO 2017)
Data updated 22 days agoSource updated 26.08e
Taxonomy
Several hierarchies coexist; edges are listed per hierarchy type with their source.
Parents
Children (0)
Leaf node — no children.
Anatomy
Data updated 13 hours agoSource updated unknowncounters aggregate over descendants
Names
Only the preferred name is recorded so far.
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Key figures
Each figure carries its unit, period and source; ranks link to "Why this rank?".
No registry-level ancestor: burden figures are published for the mutually exclusive top-level site groups only, and this entity does not descend from one. Global figures (IARC / GLOBOCAN) stay under license review and SEER awaits credentials.
Data updated 13 hours agoSource updated unknownregistry figures: none · counters aggregate over descendants