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MCID: MST002
MIFTS: 49

Mast-Cell Leukemia

Categories: Blood diseases, Cancer 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
Leukemia, Mast-Cell 43 71
Mast Cell Leukemia 58
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
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 43 D007946
NCIt 49 C3169
SNOMED-CT 67 128924002
ICD10 32 C94.3
MESH via Orphanet 44 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

About this section
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 leukemia, mast-cell, is related to mastocytosis, cutaneous and systemic mastocytosis. 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, bone 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.

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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 139)
# Related Disease Score Top Affiliating Genes
1 mastocytosis, cutaneous 33.9 KITLG KIT ATP7A
2 systemic mastocytosis 32.5 U2AF1 TNFRSF8 KLRG1 KITLG KIT
3 mast-cell sarcoma 32.3 TNFRSF8 MPO KITLG KIT
4 extracutaneous mastocytoma 30.7 U2AF1 KITLG KIT
5 sm-ahnmd 30.4 U2AF1 KITLG KIT
6 mastocytosis 30.3 TNFRSF8 RASGRP4 NTRK3 KLRG1 KITLG KIT
7 mast cell neoplasm 30.1 U2AF1 KITLG KIT ATP7A
8 aggressive systemic mastocytosis 29.8 U2AF1 TNFRSF8 KITLG KIT ATP7A
9 exanthem 29.7 MPO KIT KDR
10 hematologic cancer 29.4 U2AF1 TNFRSF8 KITLG KIT KDR
11 myeloid sarcoma 29.3 U2AF1 MPO KIT
12 chronic myelomonocytic leukemia 29.1 U2AF1 MPO KIT KDR
13 myeloproliferative neoplasm 29.0 U2AF1 MPO KITLG KIT KDR
14 myelodysplastic syndrome 28.4 U2AF1 MPO KITLG KIT KDR BTK
15 leukemia, acute myeloid 28.3 U2AF1 TNFRSF8 MPO KITLG KIT KDR
16 acute mast cell leukemia 12.7
17 chronic mast cell leukemia 12.7
18 leukemia 10.7
19 cutaneous solitary mastocytoma 10.5 KITLG KIT
20 whiplash 10.5 CCL5 CCL3
21 respiratory syncytial virus infectious disease 10.5 CCL5 CCL3
22 palladium allergic contact dermatitis 10.5 CCL3 CCL2
23 intratubular embryonal carcinoma 10.4 TNFRSF8 KIT
24 diabetes mellitus, insulin-dependent, 22 10.4 CCL5 CCL3
25 mixed germ cell cancer 10.4 TNFRSF8 KIT
26 amoxicillin allergy 10.4 FCER1A CD63
27 dysgerminoma of ovary 10.4 KITLG KIT
28 allergic encephalomyelitis 10.3 CCL5 CCL3 CCL2
29 stachybotrys chartarum 10.3 CCL5 CCL3 CCL2
30 ovarian gonadoblastoma 10.3 TNFRSF8 KIT
31 chronic eosinophilic pneumonia 10.3 CCL5 CCL3 CCL2
32 periapical granuloma 10.3 CCL5 CCL3 CCL2
33 warthin tumor 10.3 KIT CD44
34 radiculopathy 10.3 CCL5 CCL3 CCL2
35 testicular disease 10.3 TNFRSF8 KITLG KIT
36 cytomegalovirus infection 10.3 CCL5 CCL3 CCL2
37 orofacial granulomatosis 10.3 CCL5 CCL3
38 myeloid leukemia 10.3
39 pulmonary sarcoidosis 10.3 CCL5 CCL3 CCL2
40 neuritis 10.3 CCL5 CCL3 CCL2
41 dermatographia 10.3 FCER1A CD63
42 severe acute respiratory syndrome 10.3 CCL5 CCL3 CCL2
43 inflammatory bowel disease 16 10.3 CD44 CCL3
44 pulmonary vein stenosis 10.2 KIT KDR
45 bronchiolitis 10.2 CCL5 CCL3 CCL2
46 schistosomiasis 10.2 CCL5 CCL3 CCL2
47 cerebellar angioblastoma 10.2 NTRK3 KIT
48 primary bacterial infectious disease 10.2 CCL5 CCL3 CCL2
49 inflammatory myofibroblastic tumor 10.2 TNFRSF8 NTRK3 KIT
50 pancytopenia 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:

45
# 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 124)
# 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 11096-26-7, 209810-58-2
3
Iron Approved, Experimental Phase 3 15438-31-0, 7439-89-6 27284 23925
4
Denosumab Approved Phase 3 615258-40-7
5
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
6 Anesthetics, General Phase 3
7 Anesthetics, Intravenous Phase 3
8 Excitatory Amino Acid Antagonists Phase 3
9 Anesthetics, Dissociative Phase 3
10 Analgesics, Opioid Phase 3
11 Hematinics Phase 3
12 ferric gluconate Phase 3
13 Iron Supplement Phase 3
14 Pharmaceutical Solutions Phase 3
15
midostaurin Approved, Investigational Phase 2 120685-11-2 104937 9829523
16
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
17
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
18
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
19
Busulfan Approved, Investigational Phase 2 55-98-1 2478
20
Doxorubicin Approved, Investigational Phase 1, Phase 2 23214-92-8 31703
21
Bortezomib Approved, Investigational Phase 1, Phase 2 179324-69-7 387447 93860
22
tannic acid Approved Phase 2 1401-55-4
23
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
24
Promethazine Approved, Investigational Phase 2 60-87-7 4927
25
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
26
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
27
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
28
rituximab Approved Phase 2 174722-31-7 10201696
29
Histamine Approved, Investigational Phase 2 51-45-6 774
30
Acetaminophen Approved Phase 2 103-90-2 1983
31
Lenograstim Approved, Investigational Phase 2 135968-09-1
32
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
33
Sargramostim Approved, Investigational Phase 2 83869-56-1, 123774-72-1
34
Mycophenolic acid Approved Phase 2 24280-93-1 446541
35
Diphenhydramine Approved, Investigational Phase 2 58-73-1, 147-24-0 3100
36
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
37
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
38 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
39
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
40
Granisetron Approved, Investigational Phase 2 109889-09-0 3510
41
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
42
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
43
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
44
alemtuzumab Approved, Investigational Phase 2 216503-57-0
45
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
46
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
47
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
48 Immunoglobulins Phase 2
49 Antibodies Phase 2
50 Immunologic Factors Phase 2

Interventional clinical trials:

(show top 50) (show all 56)
# 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 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
3 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
4 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
5 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
6 Interest of Denosumab Treatment in Osteoporosis Associated to Systemic Mastocytosis Recruiting NCT03401060 Phase 3 Denosumab;Placebo
7 Phase II Single Arm Open Pilot Study to Demonstrate the Efficacy of Midostaurin in Symptom Improvement and Decrease of Mast Cell Burden in Patients With Indolent or Smoldering Systemic Mastocytosis. Unknown status NCT01920204 Phase 2 Midostaurin,
8 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)
9 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
10 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
11 Unrelated Donor Hematopoietic Stem Cell Transplantation After Nonmyeloablative Conditioning For Patients With Hematological Malignancies Completed NCT00627666 Phase 2 busulfan;fludarabine phosphate;leucovorin calcium;methotrexate
12 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
13 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
14 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
15 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
16 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
17 Impact of Intervention With Deferasirox on the Immune Function of Patients With Hematologic Diseases and Transfusion-Related Iron Overload Completed NCT01273766 Phase 2 deferasirox
18 ONTAK (Denileukin Diftitox) in Patients With Systemic Mastocytosis Completed NCT00493129 Phase 2 Ontak (Denileukin Diftitox)
19 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
20 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
21 Evaluation of the Efficacy of Sunitinib® in Patients With Recurrent Ovarian Clear Cell Carcinoma Completed NCT01824615 Phase 2 Sunitinib
22 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 Recruiting NCT03580655 Phase 2 Avapritinib
23 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
24 A Phase 2 Study of Ibrutinib in Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
25 A Phase II Study of Sunitinib Malate in Idiopathic Myelofibrosis Terminated NCT00387426 Phase 2 sunitinib malate
26 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
27 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
28 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
29 A Multicenter Phase 1, Open-Label Study of DCC-2618 to Assess Safety, Tolerability, and Pharmacokinetics in Patients With Advanced Malignancies Recruiting NCT02571036 Phase 1 DCC-2618;DCC-2618
30 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
31 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
32 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
33 A Pharmacokinetic Participation Questionnaire Study Completed NCT00890435
34 S9007, Cytogenetic Studies in Leukemia Patients Completed NCT00996047
35 Dapsone Induced Methemoglobinemia in Pediatric Hematologic Malignancy and Aplastic Anemia Completed NCT00993694 chemotherapy;dapsone
36 Use of Music to Reduce Anxiety & Perceived Pain for Adult Patients With Hematological Malignancies Undergoing Bone Marrow Biopsy Completed NCT00376922
37 Quality of Life in Young Adult Survivors of Hematologic Malignancies Completed NCT00956475
38 Patient-Reported Outcome Questionnaire Development for Symptoms of Systemic Mastocytosis Completed NCT02380222
39 A Children's Oncology Group Protocol for Collecting and Banking Pediatric Research Specimens Including Rare Pediatric Tumors Completed NCT00898079
40 Investigating the Prognostic Importance of Bioelectrical Impedance Phase Angle in Adults Treated for Newly Diagnosed Acute Leukemia Completed NCT01869777
41 The TOUCH Project: Reducing Distress and Promoting Quality of Life Via Caregiver Massage of Children Undergoing Treatment for Cancer Completed NCT01053494
42 Modified Preemptive CMV Management Strategy After Allogeneic Hematopoietic Cell Transplantation and Laboratory Correlation With Innate Immune Function Completed NCT01199562 ganciclovir;valganciclovir;foscarnet sodium
43 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
44 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
45 Use of [F-18] FLT for Imaging With Positron Emission Tomography (PET) Recruiting NCT00935090
46 Mast Cell Connect: A Registry for Patients With Mastocytosis Recruiting NCT02620254
47 A Pharmacokinetic Study of Pemetrexed in the Cerebrospinal Fluid of Patients With Leptomeningeal Metastases Active, not recruiting NCT00424242 Early Phase 1 Pemetrexed
48 Carolina Senior: UNC Registry for Older Cancer Patients Active, not recruiting NCT01137825
49 Tissue Procurement For Hematolymphoid Conditions Active, not recruiting NCT01137643
50 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

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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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
Bone, Bone Marrow, Myeloid, Nk Cells, Uterus, Monocytes, T Cells
Sources

Publications for Mast-Cell Leukemia

About this section

Articles related to Mast-Cell Leukemia:

(show top 50) (show all 278)
# 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. 61 54
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. 61 54
16189265 2006
4
Temporal quantitation of mutant Kit tyrosine kinase signaling attenuated by a novel thiophene kinase inhibitor OSI-930. 61 54
16093434 2005
5
The proto-oncogene c-kit is expressed in leiomyosarcomas of the uterus. 61 54
12893208 2003
6
Expression of RANTES and CCR1 in oral lichen planus and association with mast cell migration. 54 61
11903822 2002
7
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
8
Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies. 54 61
11290608 2001
9
Inhibition of c-kit receptor tyrosine kinase activity by STI 571, a selective tyrosine kinase inhibitor. 54 61
10910906 2000
10
Canine mast cell tumors express stem cell factor receptor. 54 61
10698217 2000
11
In vivo differentiation of mast cells from acute myeloid leukemia blasts carrying a novel activating ligand-independent C-kit mutation. 61 54
9714703 1998
12
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. 61 54
9274861 1997
13
Mechanisms of constitutive activation of c-kit receptor tyrosine kinase. 61 54
9209403 1997
14
Substitution of an aspartic acid results in constitutive activation of c-kit receptor tyrosine kinase in a rat tumor mast cell line RBL-2H3. 61 54
7536501 1995
15
Expression of multiple chemokine genes by a human mast cell leukemia. 61 54
8188667 1994
16
Activating mutations of the c-kit proto-oncogene in a human mast cell leukemia cell line. 54 61
7512180 1994
17
Expression of Bruton's agammaglobulinemia tyrosine kinase gene, BTK, is selectively down-regulated in T lymphocytes and plasma cells. 61 54
8283037 1994
18
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
19
Activation of Siglec-7 results in inhibition of in vitro and in vivo growth of human mast cell leukemia cells. 61
32035162 2020
20
Pharmacotherapy in Mast Cell Leukemia. 61
32208985 2020
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
Allogeneic Hematopoietic Stem Cell Transplantation in a Rare Case of Tonsillar Mast Cell Sarcoma. 61
32181155 2020
23
Identification of a leukemia-initiating stem cell in human mast cell leukemia. 61
30953030 2019
24
MARS: Mutation-Adjusted Risk Score for Advanced Systemic Mastocytosis. 61
31509472 2019
25
Evolution of myelodisplasic syndrome with ring sideroblasts (MDS-RS) to systemic mastocytosis and aleukemic mast cell leukemia. 61
31801702 2019
26
N822K- or V560G-mutated KIT activation preferentially occurs in lipid rafts of the Golgi apparatus in leukemia cells. 61
31484543 2019
27
A phase 2 study of brentuximab vedotin in patients with CD30-positive advanced systemic mastocytosis. 61
31350306 2019
28
Ultrastructural, cytogenetic, and molecular findings in mast cell leukemia: Case report. 61
31360496 2019
29
Relevant updates in systemic mastocytosis. 61
30978435 2019
30
Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches. 61
31216696 2019
31
Mast cell leukemia and hemophagocytosis in a patient with myelodysplastic syndrome. 61
31097536 2019
32
Multiple vertebral fractures as the first manifestation of systemic mastocytosis. 61
30770937 2019
33
A case report of systemic mastocytosis associated with multiple hematologic non-mast cell lineage diseases. 61
30849188 2019
34
The unfolded protein response modulators GSK2606414 and KIRA6 are potent KIT inhibitors. 61
30931942 2019
35
A registry-based analysis of survival outcomes in mast cell leukemia. 61
30665051 2019
36
Systemic mastocytosis in adults: 2019 update on diagnosis, risk stratification and management. 61
30536695 2019
37
Midostaurin for the management of FLT3-mutated acute myeloid leukemia and advanced systemic mastocytosis. 61
30753289 2019
38
An autopsy case of mast cell leukemia. 61
30659698 2019
39
Mast Cell Leukemia with Ascites and Multiple Organs Damage. 61
31583006 2019
40
Novel approaches to treating advanced systemic mastocytosis. 61
31372066 2019
41
Recent advances in the understanding and therapeutic management of mastocytosis. 61
31824655 2019
42
FDA Approval Summary: Midostaurin for the Treatment of Advanced Systemic Mastocytosis. 61
30115735 2018
43
Cytogenetic abnormalities in systemic mastocytosis: WHO subcategory-specific incidence and prognostic impact among 348 informative cases. 61
30152525 2018
44
Mayo alliance prognostic system for mastocytosis: clinical and hybrid clinical-molecular models. 61
30413432 2018
45
Preclinical human models and emerging therapeutics for advanced systemic mastocytosis. 61
29976735 2018
46
Whole-Transcriptome Profiling of Canine and Human in Vitro Models Exposed to a G-Quadruplex Binding Small Molecule. 61
30459395 2018
47
A Case of Mast Cell Leukemia: A Review of the Pathophysiology of Systemic Mastocytosis and Associated Psychiatric Symptoms. 61
29571984 2018
48
Acute mast cell leukemia: A rare but highly aggressive hematopoietic neoplasm. 61
29736992 2018
49
Leveraging Siglec-8 endocytic mechanisms to kill human eosinophils and malignant mast cells. 61
28734845 2018
50
Prevalence of CD30 immunostaining in neoplastic mast cells: A retrospective immunohistochemical study. 61
29794740 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_000222.2(KIT):c.2447A>T (p.Asp816Val)SNV Uncertain significance 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
12.29 U2AF1 ITGB1 CD44 CCL5
11
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.29 NTRK3 KITLG KIT KDR ITGB1
12
Proteoglycans in cancer 36
12.19 KDR ITGB1 CD63 CD44
13
Tyrosine Kinases / Adaptors 4
12 KITLG KIT KDR BTK
14
Embryonic and Induced Pluripotent Stem Cells 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 Cells and Lineage-specific Markers 64
11.78 KIT ITGB1 CD44
18
Hematopoietic Stem Cells 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 Cells Differentiation 64
11.69 KIT CD44 CCL3
22
C-MYB transcription factor network 1
11.67 MPO KITLG KIT
23
Lung fibrosis 1
11.54 CCL5 CCL3 CCL2
24
Interleukin-10 signaling 65
11.4 CCL5 CCL3 CCL2
25
Cell adhesion_Cell-matrix glycoconjugates 22
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 22
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 plasma membrane GO:0005886 9.47 TNFRSF8 SYT1 RASGRP4 NTRK3 KLRG1 KITLG
2 membrane raft GO:0045121 9.46 KDR ITGB1 BTK ATP7A
3 secretory granule GO:0030141 9.43 SYT1 MPO ATP7A
4 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 39)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 10.06 NTRK3 KITLG KIT KDR ITGB1
2 cell migration GO:0016477 9.95 KDR ITGB1 CD63 CD44
3 extracellular matrix organization GO:0030198 9.94 KDR ITGB1 CD44 ATP7A
4 cytokine-mediated signaling pathway GO:0019221 9.91 KIT ITGB1 CCL5 CCL3 CCL2
5 inflammatory response GO:0006954 9.91 KLRG1 KIT CD44 CCL5 CCL3 CCL2
6 positive regulation of protein kinase B signaling GO:0051897 9.9 KITLG KIT ITGB1 CCL3
7 regulation of cell shape GO:0008360 9.88 KIT KDR CCL3 CCL2
8 peptidyl-tyrosine phosphorylation GO:0018108 9.87 NTRK3 KIT KDR BTK
9 cellular response to interferon-gamma GO:0071346 9.85 CCL5 CCL3 CCL2
10 cell-matrix adhesion GO:0007160 9.85 ITGB1 CD63 CD44
11 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.84 RASGRP4 NTRK3 KIT KDR
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 cellular response to organic cyclic compound GO:0071407 9.8 CCL5 CCL3 CCL2
16 cell chemotaxis GO:0060326 9.78 KIT CCL5 CCL3 CCL2
17 monocyte chemotaxis GO:0002548 9.77 CCL5 CCL3 CCL2
18 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.76 NTRK3 KIT KDR CCL5
19 pigmentation GO:0043473 9.75 KIT CD63 ATP7A
20 lymphocyte chemotaxis GO:0048247 9.73 CCL5 CCL3 CCL2
21 MAPK cascade GO:0000165 9.73 RASGRP4 KITLG KIT CCL5 CCL3 CCL2
22 lipopolysaccharide-mediated signaling pathway GO:0031663 9.72 CCL5 CCL3 CCL2
23 positive regulation of kinase activity GO:0033674 9.71 NTRK3 KIT KDR CD44
24 cellular response to fibroblast growth factor stimulus GO:0044344 9.7 CD44 CCL5 CCL2
25 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.68 KDR CCL2
26 removal of superoxide radicals GO:0019430 9.67 MPO ATP7A
27 positive regulation of phospholipase C activity GO:0010863 9.67 NTRK3 KIT
28 eosinophil chemotaxis GO:0048245 9.67 CCL5 CCL3 CCL2
29 positive regulation of positive chemotaxis GO:0050927 9.66 NTRK3 KDR
30 negative regulation by host of viral transcription GO:0043922 9.65 CCL5 CCL3
31 positive regulation of cell migration GO:0030335 9.63 NTRK3 KIT KDR ITGB1 CCL5 CCL3
32 ectopic germ cell programmed cell death GO:0035234 9.62 KITLG KIT
33 germ cell migration GO:0008354 9.62 KIT ITGB1
34 positive regulation of natural killer cell chemotaxis GO:2000503 9.61 CCL5 CCL3
35 astrocyte cell migration GO:0043615 9.61 CCL3 CCL2
36 embryonic hemopoiesis GO:0035162 9.54 KITLG KIT KDR
37 macrophage chemotaxis GO:0048246 9.5 CCL5 CCL3 CCL2
38 protein kinase B signaling GO:0043491 9.26 KDR CCL5 CCL3 CCL2
39 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 10.41 U2AF1 TNFRSF8 SYT1 NTRK3 MPO KLRG1
2 cytokine activity GO:0005125 9.76 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 protein tyrosine kinase activity GO:0004713 9.46 NTRK3 KIT KDR BTK
6 CCR5 chemokine receptor binding GO:0031730 9.43 CCL5 CCL3
7 phospholipase activator activity GO:0016004 9.4 CCL5 CCL3
8 CCR1 chemokine receptor binding GO:0031726 9.26 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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
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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