Mast cell leukemia
diseaseOn this page
Also known as aleukemic mast cell leukaemiaaleukemic mast cell leukemiaMast cell leukaemiamast-cell leukaemiamast-cell leukemiaSMMCL
Summary
Mast cell leukemia (MONDO:0020334) is a cancer and 22 clinical trials. Top therapeutic interventions include fludarabine phosphate, foscarnet, and avapritinib. A subtype of leukemia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Classification: Cancer
- Prevalence: <1 / 1 000 000 (Europe) [Orphanet-validated]
- Clinical trials: 22
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | Europe | Validated | |
| Point prevalence | <1 / 1 000 000 | Europe | Not yet validated |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | mast cell leukemia |
| Mondo ID | MONDO:0020334 |
| EFO | EFO:0007359 |
| MeSH | D007946 |
| Orphanet | 98851, 158799 |
| DOID | DOID:9254 |
| ICD-11 | 1359806843 |
| NCIT | C3169 |
| SNOMED CT | 110002002 |
| UMLS | C0023461 |
| MedGen | 44123 |
| GARD | 0019598 |
| MedDRA | 10056450 |
| Is cancer (heuristic) | yes |
Also known as: aleukemic mast cell leukaemia · aleukemic mast cell leukemia · Mast cell leukaemia · Mast cell leukemia · mast-cell leukaemia · mast-cell leukemia · SMMCL
Data availability: 6 cell lines.
Disease family
This is a subtype of leukemia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › hematopoietic and lymphoid system neoplasm › hematopoietic and lymphoid cell neoplasm › leukemia › mast cell leukemia
Related subtypes (11): chronic leukemia, chronic erythremia, testicular leukemia, central nervous system leukemia, aleukemic leukemia, splenic manifestation of leukemia, childhood leukemia, monocytic leukemia, myeloid leukemia, lymphoid leukemia, acute leukemia
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated for this disease
1 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Midostaurin | Approved (phase 4) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Acetaminophen, Avapritinib, Brentuximab Vedotin, Cyclosporine, Diphenhydramine, Filgrastim, Granisetron, Hydrocortisone, Ibrutinib, Mycophenolate Mofetil, Rituximab.
Clinical trials & evidence
Clinical trials
Clinical trials: 22.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 9 |
| PHASE2 | 8 |
| PHASE1 | 3 |
| PHASE1/PHASE2 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03779854 | PHASE2 | RECRUITING | Naive T Cell Depletion for Preventing Chronic Graft-versus-Host Disease in Children and Young Adults With Blood Cancers Undergoing Donor Stem Cell Transplant |
| NCT04996875 | PHASE2 | RECRUITING | (Apex) Bezuclastinib in Patients With Advanced Systemic Mastocytosis |
| NCT00006251 | PHASE1/PHASE2 | COMPLETED | Fludarabine Phosphate, Low-Dose Total-Body Irradiation, and Donor Stem Cell Transplant Followed by Cyclosporine, Mycophenolate Mofetil, Donor Lymphocyte Infusion in Treating Patients With Hematopoietic Cancer |
| NCT00118352 | PHASE2 | COMPLETED | Alemtuzumab, Fludarabine Phosphate, and Total-Body Irradiation Followed by Cyclosporine and Mycophenolate Mofetil in Treating Patients Who Are Undergoing Donor Stem Cell Transplant for Hematologic Cancer |
| NCT00387426 | PHASE2 | TERMINATED | Sunitinib in Treating Patients With Idiopathic Myelofibrosis |
| NCT01273766 | PHASE2 | COMPLETED | Deferasirox in Treating Iron Overload Caused By Blood Transfusions in Patients With Hematologic Malignancies |
| NCT01807598 | PHASE2 | COMPLETED | Brentuximab Vedotin in Treating Patients With Advanced Systemic Mastocytosis or Mast Cell Leukemia |
| NCT02415608 | PHASE2 | TERMINATED | Ibrutinib in Treating Patients With Advanced Systemic Mastocytosis |
| NCT03214666 | PHASE1/PHASE2 | TERMINATED | GTB-3550 Tri-Specific Killer Engager (TriKE®) for High Risk Hematological Malignancies |
| NCT03580655 | PHASE2 | COMPLETED | (PATHFINDER) Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, in Patients With Advanced Systemic Mastocytosis |
| NCT00890747 | PHASE1 | COMPLETED | Sunitinib Malate in Treating HIV-Positive Patients With Cancer Receiving Antiretroviral Therapy |
| NCT01231919 | PHASE1 | COMPLETED | MK2206 in Treating Younger Patients With Recurrent or Refractory Solid Tumors or Leukemia |
| NCT02561988 | PHASE1 | COMPLETED | (EXPLORER) Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (AdvSM) and Relapsed or Refractory Myeloid Malignancies |
| NCT01199562 | Not specified | ACTIVE_NOT_RECRUITING | Infection Prophylaxis and Management in Treating Cytomegalovirus (CMV) Infection in Patients With Hematologic Malignancies Previously Treated With Donor Stem Cell Transplant |
| NCT00014235 | Not specified | COMPLETED | Fludarabine Phosphate and Total-Body Radiation Followed by Donor Peripheral Blood Stem Cell Transplant and Immunosuppression in Treating Patients With Hematologic Malignancies |
| NCT00112593 | Not specified | COMPLETED | Fludarabine and Total-Body Irradiation Followed By Donor Stem Cell Transplant and Cyclosporine and Mycophenolate Mofetil in Treating HIV-Positive Patients With or Without Cancer |
| NCT00898079 | Not specified | COMPLETED | Collecting and Storing Malignant, Borderline Malignant Neoplasms, and Related Samples From Young Patients With Cancer |
| NCT01053494 | Not specified | COMPLETED | Massage Therapy Given by Caregiver in Treating Quality of Life of Young Patients Undergoing Treatment for Cancer |
| NCT01869777 | Not specified | COMPLETED | Bioelectrical Impedance Measurement for Predicting Treatment Outcome in Patients With Newly Diagnosed Acute Leukemia |
| NCT02380222 | Not specified | COMPLETED | Patient-Reported Outcome Questionnaire for Systemic Mastocytosis |
| NCT04695431 | Not specified | COMPLETED | Retrospective Study Assessing the Effect of Avapritinib Versus Best Available Therapy in Patients With AdvSM |
| NCT05219266 | Not specified | NO_LONGER_AVAILABLE | Managed Access Programs for PKC412, Midostaurin |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| FLUDARABINE PHOSPHATE | 4 | 5 |
| FOSCARNET | 4 | 4 |
| AVAPRITINIB | 4 | 2 |
| ALEMTUZUMAB | 4 | 1 |
| BRENTUXIMAB VEDOTIN | 4 | 1 |
| DEFERASIROX | 4 | 1 |
| GANCICLOVIR | 4 | 1 |
| IBRUTINIB | 4 | 1 |
| MIDOSTAURIN | 4 | 1 |
| SUNITINIB MALATE | 4 | 1 |
| VALGANCICLOVIR | 4 | 1 |
| BEZUCLASTINIB | 3 | 1 |
| CHEMBL3109278 | 0 | 1 |
| CHEMBL3647964 | 0 | 1 |
| CHEMBL4466205 | 0 | 1 |
| CHEMBL4790597 | 0 | 1 |
| CHEMBL5199540 | 0 | 1 |