Hairy Cell Leukemia Curator Notes

Modeling Choices

• The dismech unit here is the disease-level mechanism graph for classic BRAF-driven HCL, anchored to MONDO:0018935.
• HCL-v is not represented under has_subtypes because the literature consistently separates it from classic HCL by immunophenotype, BRAF status, and therapy response.
• A flat response-state subtype is used for refractory HCL because that is a contextual disease-state facet, not a separate causal program.

MONDO And NCIT Roles

• MONDO is used for the primary disease anchor, the refractory response-state subtype, and the differential diagnoses.
• NCIT is used where the current schema supports oncology-specific grounding most naturally: histopathology (Bone Marrow Fibrosis), molecular diagnosis (BRAF V600E Mutation Analysis), and the antineoplastic agent Moxetumomab Pasudotox.
• The current schema does not yet expose a disease-level NCIT mapping slot, and the current RegimenTerm dynamic enum did not accept the chosen HCL regimen codes during validation, so regimen specificity is carried by the treatment block plus ontology-grounded agents rather than forced into a failing pattern.

Graph Shape

• The graph is kept atomic: driver mutation, MAPK activation, apoptosis resistance, TGF-beta1 overproduction, marrow fibrosis, and multilineage cytopenia are separate nodes.
• Differential diagnosis carries HCL-v, SMZL, and SDRPL instead of creating placeholder pages for adjacent ontology classes.