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MCID: MST002
MIFTS: 50

Mast-Cell Leukemia

Categories: Blood diseases, Cancer diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Mast-Cell Leukemia

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MalaCards integrated aliases for Mast-Cell Leukemia:

Name: Mast-Cell Leukemia 12 36 15 17
Mast Cell Leukemia 58 29 6
Leukemia, Mast-Cell 44 71
Leukemia Mast Cell 54

Characteristics:

Orphanet epidemiological data:

58
mast cell leukemia
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Cancer diseases Rare diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:9254
KEGG 36 H01511
MeSH 44 D007946
NCIt 50 C3169
SNOMED-CT 67 110002002
ICD10 32 C94.3
MESH via Orphanet 45 D007946
ICD10 via Orphanet 33 C94.3
UMLS via Orphanet 72 C0023461
Orphanet 58 ORPHA98851
UMLS 71 C0023461
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Summaries for Mast-Cell Leukemia

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KEGG : 36 Mast cell leukemia (MCL), the leukemic manifestation of systemic mastocytosis (SM), is characterized by leukemic expansion of immature mast cells (MCs) in the bone marrow (BM) and other internal organs; and a poor prognosis. Gain-of-function mutations in the proto-oncogene c-kit that induce constitutive kinase activity of its product, KIT protein, are characteristic of various neoplastic diseases including MCL. Downstream signaling pathways, including PI3 kinase (PI3K)/AKT, are inappropriately activated, and this is believed to contribute to the abnormal proliferation and survival of these neoplastic cells. The reason why the prognosis of patients with MCL is mostly that MCs in these patients are largely resistant against conventional drugs and targeted drugs, including tyrosine kinase inhibitors (TKI) directed against KIT D816V such as PKC412 (midostaurin).

MalaCards based summary : Mast-Cell Leukemia, also known as mast cell leukemia, is related to systemic mastocytosis and mastocytosis, cutaneous. An important gene associated with Mast-Cell Leukemia is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Innate Immune System. The drugs Ketamine and Darbepoetin alfa have been mentioned in the context of this disorder. Affiliated tissues include peripheral blood, myeloid and bone marrow, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A leukemia that results in an overwhelming number of tissue mast cells located in peripheral blood.

Wikipedia : 74 Mast cell leukemia is an extremely aggressive subtype of acute myeloid leukemia that usually occurs de... more...

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Related Diseases for Mast-Cell Leukemia

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Diseases in the Mast-Cell Leukemia family:

Acute Mast Cell Leukemia Chronic Mast Cell Leukemia

Diseases related to Mast-Cell Leukemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 131)
# Related Disease Score Top Affiliating Genes
1 systemic mastocytosis 32.7 TNFRSF8 KITLG KIT
2 mastocytosis, cutaneous 32.5 KITLG KIT ATP7A
3 mast-cell sarcoma 31.7 MPO KITLG KIT
4 extracutaneous mastocytoma 30.6 U2AF1 KITLG KIT
5 mastocytosis 30.5 TNFRSF8 RASGRP4 NTRK3 KLRG1 KITLG KIT
6 sm-ahnmd 30.3 U2AF1 KITLG KIT
7 aggressive systemic mastocytosis 29.9 U2AF1 TNFRSF8 KITLG KIT ATP7A
8 mast cell neoplasm 29.8 U2AF1 NTRK3 KITLG KIT ATP7A
9 myeloproliferative neoplasm 29.7 U2AF1 MPO KITLG KIT
10 hematologic cancer 29.7 U2AF1 TNFRSF8 KITLG KIT KDR
11 chronic myelomonocytic leukemia 29.4 U2AF1 MPO KIT KDR
12 leukemia, acute myeloid 28.9 U2AF1 TNFRSF8 MPO KITLG KIT KDR
13 myelodysplastic syndrome 28.9 U2AF1 MPO KITLG KIT KDR BTK
14 asthma 28.7 RASGRP4 MPO KITLG FCER1A CD44 CCL5
15 acute mast cell leukemia 11.3
16 chronic mast cell leukemia 11.3
17 leukemia 10.5
18 near-fatal asthma 10.4 CCL5 CCL2
19 cutaneous solitary mastocytoma 10.4 KITLG KIT
20 whiplash 10.3 CCL5 CCL3
21 respiratory syncytial virus infectious disease 10.3 CCL5 CCL3
22 type 1 diabetes mellitus 22 10.3 CCL5 CCL3
23 palladium allergic contact dermatitis 10.3 CCL3 CCL2
24 intratubular embryonal carcinoma 10.3 TNFRSF8 KIT
25 mixed germ cell cancer 10.3 TNFRSF8 KIT
26 pleural lipoma 10.3 TNFRSF8 KIT
27 amoxicillin allergy 10.3 FCER1A CD63
28 dysgerminoma of ovary 10.3 KITLG KIT
29 ovarian gonadoblastoma 10.3 TNFRSF8 KIT
30 allergic encephalomyelitis 10.3 CCL5 CCL3 CCL2
31 stachybotrys chartarum 10.3 CCL5 CCL3 CCL2
32 chronic eosinophilic pneumonia 10.3 CCL5 CCL3 CCL2
33 periapical granuloma 10.2 CCL5 CCL3 CCL2
34 radiculopathy 10.2 CCL5 CCL3 CCL2
35 inflammatory bowel disease 16 10.2 CD44 CCL3
36 lung leiomyosarcoma 10.2 KITLG KIT
37 testicular disease 10.2 TNFRSF8 KITLG KIT
38 dermatographia 10.2 FCER1A CD63
39 orofacial granulomatosis 10.2 CCL5 CCL3
40 pulmonary sarcoidosis 10.2 CCL5 CCL3 CCL2
41 pulmonary vein stenosis 10.2 KIT KDR
42 exanthem 10.2
43 myeloid leukemia 10.2
44 bronchiolitis 10.2 CCL5 CCL3 CCL2
45 primary bacterial infectious disease 10.2 CCL5 CCL3 CCL2
46 physical urticaria 10.1 FCER1A CD63
47 fibrosarcoma of bone 10.1 TNFRSF8 KIT KDR
48 pancytopenia 10.1
49 acute leukemia 10.1
50 urticaria 10.1

Graphical network of the top 20 diseases related to Mast-Cell Leukemia:



Diseases related to Mast-Cell Leukemia
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Symptoms & Phenotypes for Mast-Cell Leukemia

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GenomeRNAi Phenotypes related to Mast-Cell Leukemia according to GeneCards Suite gene sharing:

26 (show all 33)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.92 SYT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.92 U2AF1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.92 SYT1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.92 U2AF1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.92 BTK NTRK3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.92 BTK
7 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.92 NTRK3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.92 KIT NTRK3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.92 U2AF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.92 KIT
11 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.92 SYT1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.92 KIT
13 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.92 SYT1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.92 SYT1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.92 U2AF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.92 BTK
17 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.92 KIT NTRK3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.92 BTK
19 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.92 NTRK3
20 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.92 NTRK3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.92 KDR
22 Increased shRNA abundance (Z-score > 2) GR00366-A-59 9.92 BTK
23 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.92 BTK KDR NTRK3
24 Increased shRNA abundance (Z-score > 2) GR00366-A-61 9.92 KIT
25 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.92 BTK
26 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.92 BTK KDR KIT NTRK3 SYT1 U2AF1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.92 U2AF1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.92 KIT
29 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.92 U2AF1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.92 KIT
31 Decreased substrate adherent cell growth GR00193-A-1 9.43 BTK KIT
32 Decreased substrate adherent cell growth GR00193-A-2 9.43 KIT
33 Decreased substrate adherent cell growth GR00193-A-4 9.43 BTK KDR KIT

MGI Mouse Phenotypes related to Mast-Cell Leukemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.18 ATP7A BTK CCL5 CD44 FCER1A ITGB1
2 cardiovascular system MP:0005385 10.13 ATP7A CD44 FCER1A ITGB1 KDR KIT
3 immune system MP:0005387 10.13 ATP7A BTK CCL2 CCL5 CD44 FCER1A
4 digestive/alimentary MP:0005381 10.01 ATP7A BTK CD44 CD63 ITGB1 KIT
5 liver/biliary system MP:0005370 9.8 ATP7A CD44 ITGB1 KDR KIT KITLG
6 normal MP:0002873 9.76 ATP7A CD44 ITGB1 KDR KIT KLRG1
7 pigmentation MP:0001186 9.35 ATP7A CD44 ITGB1 KIT KITLG
8 respiratory system MP:0005388 9.17 ATP7A CD44 ITGB1 KDR KIT NTRK3
Sources

Drugs & Therapeutics for Mast-Cell Leukemia

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Drugs for Mast-Cell Leukemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 118)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
2
Darbepoetin alfa Approved, Investigational Phase 3 209810-58-2, 11096-26-7
3
Iron Approved Phase 3 7439-89-6 23925 29936
4
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
5 Anesthetics, Dissociative Phase 3
6 Excitatory Amino Acid Antagonists Phase 3
7 Hematinics Phase 3
8 ferric gluconate Phase 3
9 Iron Supplement Phase 3
10
midostaurin Approved, Investigational Phase 2 120685-11-2 104937 9829523
11
Doxorubicin Approved, Investigational Phase 1, Phase 2 23214-92-8 31703
12
Bortezomib Approved, Investigational Phase 1, Phase 2 179324-69-7 387447 93860
13
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
14
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
15
leucovorin Approved Phase 2 58-05-9 6006
16
Busulfan Approved, Investigational Phase 2 55-98-1 2478
17
Acetaminophen Approved Phase 2 103-90-2 1983
18
tannic acid Approved Phase 2 1401-55-4
19
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
20
Lenograstim Approved, Investigational Phase 2 135968-09-1
21
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
22 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
23
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
24
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
25
Mycophenolic acid Approved Phase 2 24280-93-1 446541
26
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
27
Histamine Approved, Investigational Phase 2 51-45-6, 75614-87-8 774
28
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
29
rituximab Approved Phase 2 174722-31-7 10201696
30
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
31
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
32
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
33
Granisetron Approved, Investigational Phase 2 109889-09-0 3510
34
Promethazine Approved, Investigational Phase 2 60-87-7 4927
35
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
36
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
37
alemtuzumab Approved, Investigational Phase 2 216503-57-0
38
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381 214348
39
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
40
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
41
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
42 Anesthetics Phase 2
43 Neurotransmitter Agents Phase 2
44 Analgesics Phase 2
45 Epoetin alfa Phase 2 113427-24-0
46 Antibiotics, Antitubercular Phase 1, Phase 2
47
Liposomal doxorubicin Phase 1, Phase 2 31703
48 Nutrients Phase 2
49 Micronutrients Phase 2
50 Immunosuppressive Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 52)
# Name Status NCT ID Phase Drugs
1 A Randomized Double-Blind Controlled Trial of Ketamine Versus Placebo in Conjunction With Best Pain Management in Neuropathic Pain in Cancer Patients Unknown status NCT01316744 Phase 3 ketamine hydrochloride
2 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
3 The Use of American Ginseng (Panax Quinquefolius) to Improve Cancer-Related Fatigue: A Randomized, Double-Blind, Placebo-Controlled Phase III Study Completed NCT00719563 Phase 3 American ginseng
4 Phase III Randomized Trial of an Opioid Titration Order Sheet Compared to Standard of Care in Patients With Cancer Related Pain. Completed NCT00666211 Phase 3
5 A Phase III, Randomized Study of the Effects of Parenteral Iron, Oral Iron, or No Iron Supplementation on the Erythropoietic Response to Darbepoetin Alfa for Cancer Patients With Chemotherapy-Associated Anemia Completed NCT00661999 Phase 3 sodium ferric gluconate complex in sucrose
6 A Single Arm, Phase II, Open-Label Study to Determine the Efficacy of 100mg Twice Daily Oral Dosing of Midostaurin Administered to Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia +/- an Associated Hematological Clonal Non-Mast Cell Lineage Disease Completed NCT00782067 Phase 2 Midostaurin (PKC412)
7 RC05CB A Pilot, Randomized Comparison of Standard Weekly Epoetin Alfa to Every-3-Week-Epoetin Alfa and Every 3-Week Darbepoetin Alfa Completed NCT00416624 Phase 2 darbepoetin alfa;epoetin alfa
8 A Phase I Evaluation of the Combination of Pegylated Liposomal Doxorubicin (Doxil®) With PS-341 in Patients With Refractory Hematologic and Solid Malignancies Completed NCT00237627 Phase 1, Phase 2 PS-341;Doxil;Velcade
9 Unrelated Donor Hematopoietic Stem Cell Transplantation After Nonmyeloablative Conditioning For Patients With Hematological Malignancies Completed NCT00627666 Phase 2 busulfan;fludarabine phosphate;leucovorin calcium;methotrexate
10 Donor NK Cell Infusion for Progression/Recurrence of Underlying Malignant Disorders After HLA-haploidentical HCT - a Phase 1-2 Study Completed NCT00823524 Phase 1, Phase 2
11 A Single Arm, Phase 2, Open-Label Study to Determine the Efficacy of Twice Daily Oral Dosing of PKC412 <Midostaurin> Administered to Patients With Aggressive Systemic Mastocytosis (ASM) and Mast Cell Leukemia (MCL) Completed NCT00233454 Phase 2 Midostaurin
12 An Open-label, Phase 2 Trial of Prophylactic Rituximab Therapy for Prevention of Chronic Graft Versus Host Disease After TLI/ARG Nonmyeloablative Allogeneic Stem Cell Transplantation Completed NCT00186628 Phase 2 Rituximab;Anti-thymoglobulin, rabbit (ATG, rabbit ATG);Cyclosporine;Mycophenylate mofetil;Filgrastim;Granisetron;Solumedrol;Acetaminophen;Diphenhydramine;Hydrocortisone
13 Induction of Mixed Hematopoietic Chimerism in Patients Using Fludarabine, Low Dose TBI, PBSC Infusion and Post-Transplant Immunosuppression With Cyclosporine and Mycophenolate Mofetil Completed NCT00006251 Phase 1, Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
14 Campath (Alemtuzumab) Dose Escalation, Low-Dose TBI and Fludarabine Followed by HLA Class II Mismatched Donor Stem Cell Transplantation for Patients With Hematologic Malignancies: A Multicenter Trial Completed NCT00118352 Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
15 Impact of Intervention With Deferasirox on the Immune Function of Patients With Hematologic Diseases and Transfusion-Related Iron Overload Completed NCT01273766 Phase 2 deferasirox
16 A Study of Brentuximab Vedotin (SGN-35) in CD30-Positive Systemic Mastocytosis With or Without an Associated Hematological Clonal Non-Mast Cell Lineage Disease (AHNMD) Completed NCT01807598 Phase 2 Brentuximab vedotin
17 GTB-3550 (CD16/IL-15/CD33)Tri-Specific Killer Engager (TriKEâ„¢) for the Treatment of High Risk Myelodysplastic Syndromes, Refractory/Relapsed Acute Myeloid Leukemia and Advanced Systemic Mastocytosis Recruiting NCT03214666 Phase 1, Phase 2 GTB-3550 TriKEâ„¢ Phase I;GTB-3550 TriKEâ„¢ Phase II
18 An Open-label, Single Arm, Phase 2 Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, in Patients With Advanced Systemic Mastocytosis Active, not recruiting NCT03580655 Phase 2 Avapritinib
19 A Phase II Study of Sunitinib Malate in Idiopathic Myelofibrosis Terminated NCT00387426 Phase 2 sunitinib malate
20 A Phase 2 Study of Ibrutinib in Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
21 Multi-Center, Prospective, Randomized, Double-Blinded, Controlled Clinical Trial to Evaluate the Safety and Effectiveness of an Antimicrobial Catheter Lock Solution in Maintaining Catheter Patency and Preventing Catheter Related Blood Stream Infections (CRBSI) Withdrawn NCT01101412 Phase 1, Phase 2 Edetate Calcium Disodium;Ethanol;Trimethoprim-sulfamethoxazole
22 A Phase I Study of MK-2206, an AKT Inhibitor, in Pediatric Patients With Recurrent or Refractory Solid Tumors or Leukemia Completed NCT01231919 Phase 1 Akt inhibitor MK2206
23 A Phase 1/Pharmacokinetic Study of Sunitinib in Patients With Cancer Who Also Have HIV and Are on HAART Therapy Completed NCT00890747 Phase 1 sunitinib malate
24 A Phase 1 Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (AdvSM) and Relapsed or Refractory Myeloid Malignancies Active, not recruiting NCT02561988 Phase 1 Avapritinib
25 Descriptive Study to Evaluate the Information and Psychosocial Issues on the Risk on Infertility in Cancer Patients After Receiving Treatment in a Comprehensive Cancer Center Unknown status NCT01295463
26 Ancillary Laboratory Protocol For the Collection of Diagnostic Material On Patients Considered For ECOG Treatment Trials For Leukemia Or Related Hematologic Disorders Unknown status NCT00897767
27 Mast Cell Connect: A Registry for Patients With Mastocytosis Completed NCT02620254
28 Use of Music to Reduce Anxiety & Perceived Pain for Adult Patients With Hematological Malignancies Undergoing Bone Marrow Biopsy Completed NCT00376922
29 Dapsone Induced Methemoglobinemia in Pediatric Hematologic Malignancy and Aplastic Anemia Completed NCT00993694 chemotherapy;dapsone
30 Quality of Life in Young Adult Survivors of Hematologic Malignancies Completed NCT00956475
31 S9007, Cytogenetic Studies in Leukemia Patients Completed NCT00996047
32 A Pharmacokinetic Participation Questionnaire Study Completed NCT00890435
33 Modified Preemptive CMV Management Strategy After Allogeneic Hematopoietic Cell Transplantation and Laboratory Correlation With Innate Immune Function Completed NCT01199562 ganciclovir;valganciclovir;foscarnet sodium
34 The TOUCH Project: Reducing Distress and Promoting Quality of Life Via Caregiver Massage of Children Undergoing Treatment for Cancer Completed NCT01053494
35 Allogeneic Hematopoietic Stem Cell Transplantation for Induction of Mixed Hematopoietic Chimerism in Patients Infected With Human Immunodeficiency Virus-1 Using a Non-Marrow Ablative Conditioning Regimen Containing Total Body Irradiation in Combination With Post-Transplant Immunosuppression With Cyclosporine and Mycophenolate Mofetil Completed NCT00112593 fludarabine phosphate;cyclosporine;mycophenolate mofetil
36 Nonmyeloablative PBSC Allografting From HLA Matched Related Donors Using Fludarabine and/or Low Dose TBI With Disease-Risk Based Immunosuppression Completed NCT00014235 fludarabine phosphate;cyclosporine;mycophenolate mofetil
37 Investigating the Prognostic Importance of Bioelectrical Impedance Phase Angle in Adults Treated for Newly Diagnosed Acute Leukemia Completed NCT01869777
38 A Children's Oncology Group Protocol for Collecting and Banking Pediatric Research Specimens Including Rare Pediatric Tumors Completed NCT00898079
39 Patient-Reported Outcome Questionnaire Development for Symptoms of Systemic Mastocytosis Completed NCT02380222
40 Use of [F-18] FLT for Imaging With Positron Emission Tomography (PET) Recruiting NCT00935090
41 Carolina Senior: UNC Registry for Older Cancer Patients Active, not recruiting NCT01137825
42 Tissue Procurement For Hematolymphoid Conditions Active, not recruiting NCT01137643
43 A Pharmacokinetic Study of Pemetrexed in the Cerebrospinal Fluid of Patients With Leptomeningeal Metastases Active, not recruiting NCT00424242 Early Phase 1 Pemetrexed
44 Expanded Access Program (EAP) for Avapritinib in Patients With Advanced Systemic Mastocytosis (AdvSM) Available NCT04714086 Avapritinib
45 An External Control, Observational, Retrospective Study Assessing the Effect of Avapritinib Compared With Best Available Therapy for Patients With Advanced Systemic Mastocytosis Enrolling by invitation NCT04695431
46 A Randomized Comparison of Oral Methadone as a "First-Switch" Opioid Versus Opioid Switching Between Sustained-Release Morphine and Oxycodone for Oncology-Hematology Outpatients With Pain Management Problems: The "Simply Rotate" Study Terminated NCT00726830 methadone hydrochloride;morphine sulfate;oxycodone hydrochloride
47 Pharmacokinetics of Continuous Infusion Fentanyl in Cancer Patients Terminated NCT00899951 fentanyl citrate
48 Clinical Correlates of Immunologic Responses to the Flu Vaccine Terminated NCT00952185
49 Prospective, Randomized Trial Comparing Heparin and Minocycline-EDTA Flush for the Prevention of Catheter-Related Infections and Occlusions Withdrawn NCT00378781 Heparin;Minocycline-EDTA
50 Perception of Caregiver Burden Withdrawn NCT00770419

Search NIH Clinical Center for Mast-Cell Leukemia

Cochrane evidence based reviews: leukemia, mast-cell

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Genetic Tests for Mast-Cell Leukemia

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Genetic tests related to Mast-Cell Leukemia:

# Genetic test Affiliating Genes
1 Mast Cell Leukemia 29
Sources

Anatomical Context for Mast-Cell Leukemia

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The Foundational Model of Anatomy Ontology organs/tissues related to Mast-Cell Leukemia:

19
Peripheral Blood

MalaCards organs/tissues related to Mast-Cell Leukemia:

40
Myeloid, Bone Marrow, Bone, Skin, Uterus
Sources

Publications for Mast-Cell Leukemia

About this section

Articles related to Mast-Cell Leukemia:

(show top 50) (show all 262)
# Title Authors PMID Year
1
Selective RNAi-mediated inhibition of mutated c-kit. 54 61
19771231 2009
2
KIT regulates tyrosine phosphorylation and nuclear localization of beta-catenin in mast cell leukemia. 54 61
17949810 2008
3
PKC412 inhibits in vitro growth of neoplastic human mast cells expressing the D816V-mutated variant of KIT: comparison with AMN107, imatinib, and cladribine (2CdA) and evaluation of cooperative drug effects. 54 61
16189265 2006
4
Temporal quantitation of mutant Kit tyrosine kinase signaling attenuated by a novel thiophene kinase inhibitor OSI-930. 54 61
16093434 2005
5
The proto-oncogene c-kit is expressed in leiomyosarcomas of the uterus. 54 61
12893208 2003
6
Immunohistochemical properties of bone marrow mast cells in systemic mastocytosis: evidence for expression of CD2, CD117/Kit, and bcl-x(L). 54 61
11381374 2001
7
Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies. 61 54
11290608 2001
8
Inhibition of c-kit receptor tyrosine kinase activity by STI 571, a selective tyrosine kinase inhibitor. 61 54
10910906 2000
9
Canine mast cell tumors express stem cell factor receptor. 61 54
10698217 2000
10
In vivo differentiation of mast cells from acute myeloid leukemia blasts carrying a novel activating ligand-independent C-kit mutation. 61 54
9714703 1998
11
Production of macrophage inflammatory protein-1alpha by human mast cells: increased anti-IgE-dependent secretion after IgE-dependent enhancement of mast cell IgE-binding ability. 54 61
9274861 1997
12
Mechanisms of constitutive activation of c-kit receptor tyrosine kinase. 61 54
9209403 1997
13
Substitution of an aspartic acid results in constitutive activation of c-kit receptor tyrosine kinase in a rat tumor mast cell line RBL-2H3. 54 61
7536501 1995
14
Expression of multiple chemokine genes by a human mast cell leukemia. 54 61
8188667 1994
15
Activating mutations of the c-kit proto-oncogene in a human mast cell leukemia cell line. 54 61
7512180 1994
16
Expression of Bruton's agammaglobulinemia tyrosine kinase gene, BTK, is selectively down-regulated in T lymphocytes and plasma cells. 61 54
8283037 1994
17
Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product. 54 61
7691885 1993
18
Graft-versus-mastocytosis effect after donor lymphocyte infusion: Proof of principle. 61
33010068 2021
19
Systemic mastocytosis in adults: 2021 update on diagnosis, risk stratification and management. 61
33524167 2021
20
Clinical Impact of Skin Lesions in Mastocytosis: A Multicenter Study of the European Competence Network on Mastocytosis (ECNM). 61
33581142 2021
21
A case of aleukemic mast cell leukemia with an underlying myeloproliferative neoplasm: Morphological and molecular characteristics of a highly aggressive disease. 61
32242958 2020
22
Nintedanib Targets KIT D816V Neoplastic Cells Derived from Induced Pluripotent Stem cells of Systemic Mastocytosis. 61
33512435 2020
23
Evolution of myelodisplasic syndrome with ring sideroblasts (MDS-RS) to systemic mastocytosis and aleukemic mast cell leukemia. 61
31801702 2020
24
Activation of Siglec-7 results in inhibition of in vitro and in vivo growth of human mast cell leukemia cells. 61
32035162 2020
25
Pharmacotherapy in Mast Cell Leukemia. 61
32208985 2020
26
Allogeneic Hematopoietic Stem Cell Transplantation in a Rare Case of Tonsillar Mast Cell Sarcoma. 61
32181155 2020
27
Acute aleukemic mast cell leukemia: Report of a case and review of the literature. 61
33318926 2020
28
A case report and case review: Chronic myeloid leukemia (CML) blast phase with myelomastocytic differentiation. 61
33072512 2020
29
MARS: Mutation-Adjusted Risk Score for Advanced Systemic Mastocytosis. 61
31509472 2019
30
Identification of a leukemia-initiating stem cell in human mast cell leukemia. 61
30953030 2019
31
N822K- or V560G-mutated KIT activation preferentially occurs in lipid rafts of the Golgi apparatus in leukemia cells. 61
31484543 2019
32
A phase 2 study of brentuximab vedotin in patients with CD30-positive advanced systemic mastocytosis. 61
31350306 2019
33
Ultrastructural, cytogenetic, and molecular findings in mast cell leukemia: Case report. 61
31360496 2019
34
Relevant updates in systemic mastocytosis. 61
30978435 2019
35
Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches. 61
31216696 2019
36
Mast cell leukemia and hemophagocytosis in a patient with myelodysplastic syndrome. 61
31097536 2019
37
Multiple vertebral fractures as the first manifestation of systemic mastocytosis. 61
30770937 2019
38
A case report of systemic mastocytosis associated with multiple hematologic non-mast cell lineage diseases. 61
30849188 2019
39
The unfolded protein response modulators GSK2606414 and KIRA6 are potent KIT inhibitors. 61
30931942 2019
40
Systemic mastocytosis in adults: 2019 update on diagnosis, risk stratification and management. 61
30536695 2019
41
A registry-based analysis of survival outcomes in mast cell leukemia. 61
30665051 2019
42
Midostaurin for the management of FLT3-mutated acute myeloid leukemia and advanced systemic mastocytosis. 61
30753289 2019
43
An autopsy case of mast cell leukemia. 61
30659698 2019
44
Recent advances in the understanding and therapeutic management of mastocytosis. 61
31824655 2019
45
Mast Cell Leukemia with Ascites and Multiple Organs Damage. 61
31583006 2019
46
Novel approaches to treating advanced systemic mastocytosis. 61
31372066 2019
47
Cytogenetic abnormalities in systemic mastocytosis: WHO subcategory-specific incidence and prognostic impact among 348 informative cases. 61
30152525 2018
48
FDA Approval Summary: Midostaurin for the Treatment of Advanced Systemic Mastocytosis. 61
30115735 2018
49
Mastocytosis: One Word for Different Diseases. 61
32700030 2018
50
Whole-Transcriptome Profiling of Canine and Human in Vitro Models Exposed to a G-Quadruplex Binding Small Molecule. 61
30459395 2018
Sources

Variations for Mast-Cell Leukemia

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ClinVar genetic disease variations for Mast-Cell Leukemia:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIT NM_000222.3(KIT):c.2447A>T SNV Likely pathogenic 13852 rs121913507 4:55599321-55599321 4:54733155-54733155
Sources

Expression for Mast-Cell Leukemia

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Search GEO for disease gene expression data for Mast-Cell Leukemia.
Sources

Pathways for Mast-Cell Leukemia

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Pathways related to Mast-Cell Leukemia according to KEGG:

36
# Name Kegg Source Accession
1 PI3K-Akt signaling pathway hsa04151

Pathways related to Mast-Cell Leukemia according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.72 TNFRSF8 RASGRP4 MPO KLRG1 KITLG KIT
2
ERK Signaling 63
Show member pathways
 13.65 TNFRSF8 NTRK3 KITLG KIT KDR ITGB1
3
PEDF Induced Signaling 63
Show member pathways
 13.54 TNFRSF8 NTRK3 KIT KDR FCER1A CCL5
4
TGF-Beta Pathway 63
Show member pathways
 13.35 NTRK3 KITLG KIT KDR ITGB1 CCL5
5
Cytokine Signaling in Immune system 65
Show member pathways
 13.17 TNFRSF8 RASGRP4 KITLG KIT ITGB1 CD44
6
PAK Pathway 63
Show member pathways
 13.09 TNFRSF8 NTRK3 KITLG KIT KDR CCL5
7
Akt Signaling 63
Show member pathways
 13.04 TNFRSF8 NTRK3 KITLG KIT KDR ITGB1
8
Phospholipase-C Pathway 63
Show member pathways
 12.96 NTRK3 KITLG KIT KDR ITGB1 BTK
9
Ras signaling pathway 36
Show member pathways
 12.6 RASGRP4 KITLG KIT KDR ITGB1
10
Shigellosis 36
12.3 U2AF1 ITGB1 CD44 CCL5
11
G-protein signaling RAC1 in cellular process 23
Show member pathways
 12.29 NTRK3 KITLG KIT KDR ITGB1
12
Proteoglycans in cancer 36
12.18 KDR ITGB1 CD63 CD44
13
Tyrosine Kinases / Adaptors 4
12 KITLG KIT KDR BTK
14
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.92 KLRG1 KITLG KDR ITGB1
15
Hematopoietic cell lineage 36
11.8 KITLG KIT CD44
16
NF-kappaB Signaling 4
11.79 TNFRSF8 MPO KITLG KIT CD63 CD44
17
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.78 KIT ITGB1 CD44
18
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.78 MPO KITLG KIT FCER1A CD44
19
Rheumatoid arthritis 36
11.77 CCL5 CCL3 CCL2
20
Angiogenesis (CST) 4
11.74 KDR ITGB1 CCL2
21
Innate Lymphoid Cell Differentiation Pathways 64
11.69 KIT CD44 CCL3
22
C-MYB transcription factor network 1
11.67 MPO KITLG KIT
23
Lung fibrosis 1
11.55 CCL5 CCL3 CCL2
24
Interleukin-10 signaling 65
11.4 CCL5 CCL3 CCL2
25
Cell adhesion_Cell-matrix glycoconjugates 23
11.28 ITGB1 CD44 CCL5
26
Regulation of KIT signaling 65
10.84 KITLG KIT
27
LDL Oxidation in Atherogenesis 63
10.81 MPO CCL3 CCL2
28
G-protein signaling_Rap2B regulation pathway 23
10.51 NTRK3 KITLG KIT KDR ITGB1 CCL5
Sources

GO Terms for Mast-Cell Leukemia

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Cellular components related to Mast-Cell Leukemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.72 KIT ITGB1 FCER1A CD63 CD44
2 plasma membrane GO:0005886 9.47 TNFRSF8 SYT1 RASGRP4 NTRK3 KLRG1 KITLG
3 membrane raft GO:0045121 9.46 KDR ITGB1 BTK ATP7A
4 secretory granule GO:0030141 9.43 SYT1 MPO ATP7A
5 receptor complex GO:0043235 9.26 NTRK3 KIT KDR ITGB1

Biological processes related to Mast-Cell Leukemia according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 9.95 KDR ITGB1 CD63 CD44
2 extracellular matrix organization GO:0030198 9.95 KDR ITGB1 CD44 ATP7A
3 cytokine-mediated signaling pathway GO:0019221 9.92 KIT ITGB1 CCL5 CCL3 CCL2
4 positive regulation of protein kinase B signaling GO:0051897 9.91 KITLG KIT ITGB1 CCL3
5 inflammatory response GO:0006954 9.91 KLRG1 KIT CD44 CCL5 CCL3 CCL2
6 protein phosphorylation GO:0006468 9.91 NTRK3 KIT KDR CCL5 CCL3 CCL2
7 regulation of cell shape GO:0008360 9.89 KIT KDR CCL3 CCL2
8 peptidyl-tyrosine phosphorylation GO:0018108 9.88 NTRK3 KIT KDR BTK
9 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.86 RASGRP4 NTRK3 KIT KDR
10 cell-matrix adhesion GO:0007160 9.85 ITGB1 CD63 CD44
11 cellular response to interferon-gamma GO:0071346 9.85 CCL5 CCL3 CCL2
12 cellular response to interleukin-1 GO:0071347 9.82 CCL5 CCL3 CCL2
13 neutrophil chemotaxis GO:0030593 9.81 CCL5 CCL3 CCL2
14 chemokine-mediated signaling pathway GO:0070098 9.81 CCL5 CCL3 CCL2
15 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.81 NTRK3 KIT KDR CCL5
16 cellular response to organic cyclic compound GO:0071407 9.8 CCL5 CCL3 CCL2
17 cell chemotaxis GO:0060326 9.8 KIT CCL5 CCL3 CCL2
18 monocyte chemotaxis GO:0002548 9.77 CCL5 CCL3 CCL2
19 pigmentation GO:0043473 9.75 KIT CD63 ATP7A
20 lymphocyte chemotaxis GO:0048247 9.74 CCL5 CCL3 CCL2
21 MAPK cascade GO:0000165 9.73 RASGRP4 KITLG KIT CCL5 CCL3 CCL2
22 cellular response to fibroblast growth factor stimulus GO:0044344 9.72 CD44 CCL5 CCL2
23 lipopolysaccharide-mediated signaling pathway GO:0031663 9.71 CCL5 CCL3 CCL2
24 positive regulation of kinase activity GO:0033674 9.71 NTRK3 KIT KDR CD44
25 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.68 KDR CCL2
26 negative regulation by host of viral transcription GO:0043922 9.67 CCL5 CCL3
27 removal of superoxide radicals GO:0019430 9.66 MPO ATP7A
28 positive regulation of phospholipase C activity GO:0010863 9.66 NTRK3 KIT
29 positive regulation of positive chemotaxis GO:0050927 9.65 NTRK3 KDR
30 eosinophil chemotaxis GO:0048245 9.65 CCL5 CCL3 CCL2
31 embryonic hemopoiesis GO:0035162 9.63 KITLG KIT KDR
32 positive regulation of cell migration GO:0030335 9.63 NTRK3 KIT KDR ITGB1 CCL5 CCL3
33 positive regulation of natural killer cell chemotaxis GO:2000503 9.62 CCL5 CCL3
34 ectopic germ cell programmed cell death GO:0035234 9.62 KITLG KIT
35 astrocyte cell migration GO:0043615 9.61 CCL3 CCL2
36 macrophage chemotaxis GO:0048246 9.5 CCL5 CCL3 CCL2
37 protein kinase B signaling GO:0043491 9.26 KDR CCL5 CCL3 CCL2
38 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.1 NTRK3 KDR CD44 CCL5 CCL3 CCL2

Molecular functions related to Mast-Cell Leukemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.23 U2AF1 TNFRSF8 SYT1 RASGRP4 NTRK3 MPO
2 cytokine activity GO:0005125 9.78 KITLG CCL5 CCL3 CCL2
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.54 NTRK3 KIT KDR
4 chemokine activity GO:0008009 9.5 CCL5 CCL3 CCL2
5 CCR5 chemokine receptor binding GO:0031730 9.46 CCL5 CCL3
6 protein tyrosine kinase activity GO:0004713 9.46 NTRK3 KIT KDR BTK
7 phospholipase activator activity GO:0016004 9.43 CCL5 CCL3
8 CCR1 chemokine receptor binding GO:0031726 9.4 CCL5 CCL3
9 protein kinase activity GO:0004672 9.17 NTRK3 KIT KDR CCL5 CCL3 CCL2
10 CCR chemokine receptor binding GO:0048020 9.13 CCL5 CCL3 CCL2
Sources

Sources for Mast-Cell Leukemia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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