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AMKL
MCID: ACT250
MIFTS: 57

Acute Megakaryocytic Leukemia (AMKL)

Categories: Blood diseases, Cancer diseases, Rare diseases
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Aliases & Classifications for Acute Megakaryocytic Leukemia

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MalaCards integrated aliases for Acute Megakaryocytic Leukemia:

Name: Acute Megakaryocytic Leukemia 11 19 58 14 36
Acute Megakaryoblastic Leukemia 19 58 75 28 5
Acute Megakaryoblastic Leukaemia 16 31 33
Acute Myeloblastic Leukemia Type 7 19 75
Acute Myeloid Leukemia M7 19 58
Megakaryocytic Myelosis 11 33
Thrombocytic Leukaemia 11 33
Aml M7 19 58
Amkl 19 58
Acute Megakaryoblastic Leukaemia Without Mention of Remission 33
Acute Megakaryoblastic Leukaemia, Fab M7 33
M7 - Acute Megakaryoblastic Leukaemia 33
Acute Megakaryoblastic Leukaemia, Nos 33
Leukemia, Megakaryoblastic, Acute 43
Megakaryoblastic Leukemia Acute 53
Acute Megakaryocytic Leukaemia 33
Acute Myeloid Leukaemia, M7 33
Malignant Megakaryocytosis 33
Megakaryoblastic Leukaemia 33
Megakaryocytic Leukaemia 33
Fab M7 33

Characteristics:


Prevelance:

Acute Megakaryoblastic Leukemia: <1/1000000 (Europe) 58

Age Of Onset:

Acute Megakaryoblastic Leukemia: Childhood 58

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
ICD11: 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:8761
ICD9CM 34 207.2
MeSH 43 D007947
NCIt 49 C3170
SNOMED-CT 68 52220008
ICD10 31 C94.2
ICD10 via Orphanet 32 C94.2
UMLS via Orphanet 72 C0023462
Orphanet 58 ORPHA518
ICD11 33 877055215
UMLS 71 C0023462
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Summaries for Acute Megakaryocytic Leukemia

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GARD: 19 A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.

MalaCards based summary: Acute Megakaryocytic Leukemia, also known as acute megakaryoblastic leukemia, is related to childhood acute megakaryoblastic leukemia and down syndrome. An important gene associated with Acute Megakaryocytic Leukemia is GATA1 (GATA Binding Protein 1), and among its related pathways/superpathways are Signal Transduction and ERK Signaling. The drugs Etoposide and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone marrow and bone, and related phenotypes are Reduced mammosphere formation and homeostasis/metabolism

Orphanet: 58 A rare acute myeloid leukemia that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis.

Disease Ontology: 11 An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers.

Wikipedia 75 Acute megakaryoblastic leukemia: Acute megakaryoblastic leukemia (AMKL) is life-threatening leukemia in which malignant megakaryoblasts... more...

Acute myeloblastic leukemia type 7: Acute myeloid leukemia (AML) is a cancer of the myeloid line of blood cells, characterized by the rapid... more...
Sources

Related Diseases for Acute Megakaryocytic Leukemia

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Diseases related to Acute Megakaryocytic Leukemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 227)
# Related Disease Score Top Affiliating Genes
1 childhood acute megakaryoblastic leukemia 32.5 KMT2A GATA1
2 down syndrome 31.3 TP53 RUNX1 KMT2A JAK3 GATA1 ETS2
3 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) 31.1 RBM15 MRTFA
4 leukemia 31.1 TP53 THPO SEPTIN9 RUNX1 MRTFA KMT2A
5 acute leukemia 31.0 THPO RUNX1 MPO KMT2A IL3 GATA1
6 myelofibrosis 30.9 TP53 THPO RUNX1 MPO JAK3 IL3
7 leukemia, acute myeloid 30.8 TP53 THPO RUNX1 RBM15 PTEN MPO
8 aplastic anemia 30.8 TP53 THPO MPO IL3 IL11 GATA1
9 hematologic cancer 30.8 THPO RUNX1 KMT2A IL3 IL11 CSF2
10 pancytopenia 30.8 TP53 THPO RUNX1 MPO KMT2A IL3
11 deficiency anemia 30.7 TP53 THPO IL3 IL11 GATA1 CSF2
12 thrombocytopenia 30.6 THPO RUNX1 PF4 IL3 IL11 GATA1
13 polycythemia 30.6 THPO IL3 GATA1
14 thrombocytopenic purpura, autoimmune 30.6 THPO PF4 IL11
15 hemorrhagic disease 30.6 THPO PF4 MPO
16 acute erythroid leukemia 30.6 TP53 IL3 GATA1
17 b-lymphoblastic leukemia/lymphoma 30.5 MPO KMT2A IL3
18 acute myelomonocytic leukemia 30.5 SEPTIN9 RUNX1 MPO KMT2A
19 leukemia, chronic myeloid 30.5 TP53 THPO RUNX1 PTEN MPO KMT2A
20 paroxysmal nocturnal hemoglobinuria 30.5 THPO IL3 CSF2
21 myelodysplastic syndrome 30.5 TP53 THPO RUNX1 MPO KMT2A IL3
22 myeloproliferative syndrome, transient 30.5 THPO RBM15 MRTFA KMT2A GATA1 ETS2
23 erythroleukemia 30.4 PF4 IL3 GATA1 CSF2
24 thrombocytosis 30.4 THPO PF4 IL3 IL11 CSF2
25 leukemia, chronic lymphocytic 30.3 TP53 THPO PTEN KMT2A CSF2
26 leukemia, acute lymphoblastic 30.3 TP53 THPO RUNX1 MPO KMT2A JAK3
27 essential thrombocythemia 30.3 TP53 THPO PF4 JAK3 IL3 IL11
28 myeloproliferative neoplasm 30.2 THPO RUNX1 PF4 MPO KMT2A JAK3
29 myeloid leukemia 30.2 RUNX1 MPO MIR99AHG MIR100HG KMT2A IL3
30 acute promyelocytic leukemia 30.2 TP53 RUNX1 PTEN MPO KMT2A IL3
31 polycythemia vera 30.2 TP53 THPO PF4 MPO JAK3 IL3
32 blood platelet disease 30.1 TP53 THPO RUNX1 PF4 MPO IL3
33 severe combined immunodeficiency 29.9 TP53 JAK3 IL3 CSF2
34 myeloid leukemia associated with down syndrome 11.2
35 acute myeloid leukemia with recurrent genetic anomaly 10.5
36 germ cell tumor 10.5
37 high-grade astrocytoma 10.4 TP53 PTEN
38 acute megakaryoblastic leukemia in down syndrome 10.4
39 neonatal leukemia 10.4 RBM15 MRTFA KMT2A GATA1
40 oxirane allergy 10.4 PF4 IL3
41 neutropenia, severe congenital, 3, autosomal recessive 10.4 IL3 CSF2
42 thrombocytopenia 1 10.4 THPO GATA1
43 childhood acute myeloid leukemia 10.4
44 amegakaryocytic thrombocytopenia, congenital 10.4 THPO IL3 GATA1
45 acquired thrombocytopenia 10.4 THPO IL11
46 lung oat cell carcinoma 10.3 TP53 PTEN
47 granulocytopenia 10.3 MPO IL3 CSF2
48 microscopic polyangiitis 10.3 MPO CSF2
49 chromosomal duplication syndrome 10.3 TP53 GATA1 ETS2
50 neutrophilia, hereditary 10.3 MPO IL3 CSF2

Graphical network of the top 20 diseases related to Acute Megakaryocytic Leukemia:



Diseases related to Acute Megakaryocytic Leukemia
Sources

Symptoms & Phenotypes for Acute Megakaryocytic Leukemia

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GenomeRNAi Phenotypes related to Acute Megakaryocytic Leukemia according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 GATA1 JAK3 KMT2A PTEN RUNX1 SRF

MGI Mouse Phenotypes related to Acute Megakaryocytic Leukemia:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.34 CD36 CSF2 ETS2 GATA1 IL3 KMT2A
2 cellular MP:0005384 10.28 CD36 CSF2 ETS2 GATA1 IL3 JAK3
3 endocrine/exocrine gland MP:0005379 10.22 CD36 CSF2 ETS2 IL3 JAK3 MRTFA
4 immune system MP:0005387 10.21 CD36 CSF2 GATA1 IL3 JAK3 KMT2A
5 cardiovascular system MP:0005385 10.18 CD36 CSF2 ETS2 GATA1 JAK3 KMT2A
6 neoplasm MP:0002006 10.11 CSF2 ETS2 IL3 KMT2A PTEN RBM15
7 embryo MP:0005380 10.11 CSF2 ETS2 GATA1 JAK3 KMT2A PTEN
8 hematopoietic system MP:0005397 10.03 CD36 CSF2 GATA1 IL3 JAK3 KMT2A
9 skeleton MP:0005390 9.96 CD36 CSF2 GATA1 IL3 KMT2A PTEN
10 respiratory system MP:0005388 9.92 CSF2 GATA1 IL3 PTEN RUNX1 SRF
11 mortality/aging MP:0010768 9.83 CD36 CSF2 ETS2 GATA1 IL3 JAK3
12 integument MP:0010771 9.28 CD36 CSF2 ETS2 GATA1 KMT2A MRTFA
Sources

Drugs & Therapeutics for Acute Megakaryocytic Leukemia

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Drugs for Acute Megakaryocytic Leukemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 138)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoposide Approved Phase 3 33419-42-0 36462
2
Fludarabine Approved Phase 3 75607-67-9, 21679-14-1 30751 657237
3
Lenograstim Approved, Investigational Phase 3 135968-09-1
4
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
5
Busulfan Approved, Investigational Phase 3 55-98-1 2478
6
Aldesleukin Approved Phase 3 110942-02-4
7
Levoleucovorin Approved, Experimental, Investigational Phase 3 68538-85-2, 58-05-9, 73951-54-9 149436 6006
8
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 4112 126941
9
Asparaginase Escherichia coli Approved, Investigational Phase 3 9015-68-3
10
Tioguanine Approved Phase 3 154-42-7 2723601
11
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3 3680
12
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 3003 5743
13
Hydrocortisone succinate Approved Phase 3 2203-97-6 3643
14
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
15
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 3640 5754
16
Daunorubicin Approved Phase 3 20830-81-3 30323
17
Clofarabine Approved, Investigational Phase 3 123318-82-1 119182
18
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
19
Aspartic acid Approved, Nutraceutical Phase 3 56-84-8 5960
20
Tipifarnib Investigational Phase 3 192185-72-1 159324
21 Analgesics Phase 3
22
Etoposide phosphate Phase 3 16760419
23 Antirheumatic Agents Phase 3
24 Anti-Inflammatory Agents Phase 3
25 Analgesics, Non-Narcotic Phase 3
26 Gastrointestinal Agents Phase 3
27 Alkylating Agents Phase 3
28 Antineoplastic Agents, Alkylating Phase 3
29 Anti-Retroviral Agents Phase 3
30 Interleukin-2 Phase 3
31 Anti-HIV Agents Phase 3
32 Dermatologic Agents Phase 3
33 Antineoplastic Agents, Hormonal Phase 3
34 Hormones Phase 3
35 Hormone Antagonists Phase 3
36 Antiemetics Phase 3
37 glucocorticoids Phase 3
38 Folic Acid Antagonists Phase 3
39 Folate Phase 3
40 Vitamin B9 Phase 3
41 Vitamin B Complex Phase 3
42 N-Methylaspartate Phase 3
43 BB 1101 Phase 3
44 Hydrocortisone-17-butyrate Phase 3
45 Hydrocortisone 17-butyrate 21-propionate Phase 3
46
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
47
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
48
Sargramostim Approved, Investigational Phase 2 123774-72-1
49
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
50
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860

Interventional clinical trials:

(show top 50) (show all 80)
# Name Status NCT ID Phase Drugs
1 A Phase III Randomized Study of Farnesyl Transferase Inhibitor R115777 in Acute Myeloid Leukemia (AML) Patients in Second or Subsequent Remission or in Remission After Primary Induction Failure or Patients Over Age 60 in First Remission Completed NCT00093470 Phase 3 Tipifarnib
2 Phase III Randomized Study of Induction Chemotherapy With or Without MDR-Modulation With PSC-833 (NSC # 648265, IND # 41121) Followed by Cytogenetic Risk-Adapted Intensification Therapy Followed by Immunotherapy With rIL-2 (NSC # 373364, IND # 1969) vs. Observation in Previously Untreated Patients With AML < 60 Years Completed NCT00006363 Phase 3 cytarabine;daunorubicin hydrochloride;etoposide;valspodar;busulfan
3 Phase III Study of MDR Modulation With PSC-833 (NSC #648265) Followed by Immunotherapy With rIL-2 (NSC #373364) vs. No Further Therapy in Previously Untreated Patients With AML >60 Years Completed NCT00003190 Phase 3 cytarabine;daunorubicin hydrochloride;etoposide;valspodar
4 The Treatment of Down Syndrome Children With Acute Myeloid Leukemia (AML) and Myelodysplastic Syndromes (MDS) Under the Age of 4 Years Completed NCT00369317 Phase 3 asparaginase;daunorubicin hydrochloride;cytarabine;thioguanine;etoposide
5 A PHASE III STUDY IN CHILDREN WITH UNTREATED ACUTE MYELOGENOUS LEUKEMIA (AML) OR MYELODYSPLASTIC SYNDROME (MDS) Completed NCT00002798 Phase 3 asparaginase;daunorubicin hydrochloride;fludarabine phosphate;therapeutic hydrocortisone;cytarabine;idarubicin;dexamethasone;thioguanine;etoposide;methotrexate;cyclophosphamide;busulfan
6 Phase III Randomized Trial of Clofarabine as Induction and Post-Remission Therapy vs. Standard Daunorubicin &Amp; Cytarabine Induction and Intermediate Dose Cytarabine Post-Remission Therapy, Followed by Decitabine Maintenance vs. Observation in Newly-Diagnosed Acute Myeloid Leukemia in Older Adults (Age >/= 60 Years) Active, not recruiting NCT02085408 Phase 3 clofarabine;daunorubicin hydrochloride;cytarabine;decitabine
7 Randomized Phase II Study Comparing Two Administration Schedules of Flavopiridol (Alvocidib, NSC 649890, IND 46, 211) Given in Timed Sequential Combination With Cytosine Arabinoside (Ara-C) and Mitoxantrone Hydrochloride for Adults With Newly Diagnosed, Previously Untreated, Poor Risk Acute Myelogenous Leukemias (AML) Completed NCT00795002 Phase 2 alvocidib;mitoxantrone hydrochloride;cytarabine
8 A Phase II Study of and Oral Histone Deacytylase Inhibitor, MS-275 (NSC 706995), in Combination With Sargramostim (GM-CSF, Berlex, Inc.) Treating Relapsed and Refractory Myeloid Malignancies Completed NCT00462605 Phase 2 entinostat;sargramostim
9 A Phase II Randomized Trial of Carboplatin and Topotecan; Flavopiridol, Mitoxantrone and Cytosine Arabinoside; and Sirolimus, Mitoxantrone, Etoposide and Cytosine Arabinoside for the Treatment of Adults With Primary Refractory or Initial Relapse of Acute Myelogenous Leukemia (AML) Completed NCT00634244 Phase 2 alvocidib;mitoxantrone hydrochloride;carboplatin;cytarabine;sirolimus;etoposide;topotecan hydrochloride
10 Dose Escalation and Phase II Study of Bortezomib (IND #58443) Added to Standard Daunorubicin and Cytarabine Therapy for Patients With Previously Untreated Acute Myeloid Leukemia Age 60-75 Years Completed NCT00742625 Phase 1, Phase 2 daunorubicin hydrochloride;cytarabine;bortezomib
11 A Randomized Phase II Study of Nuclear Factor-kappa B (NF-κB) Inhibition During Induction Chemotherapy for Patients With Acute Myelogenous Leukemia Completed NCT02144675 Phase 2 choline magnesium trisalicylate;idarubicin;cytarabine
12 A Phase II Study of CPX-351 for Treatment of AML or Higher Risk MDS Relapsed or Refractory to Prior Therapy With Hypomethylating (HMA) Agent Completed NCT02019069 Phase 2 liposomal cytarabine-daunorubicin CPX-351
13 Randomized Phase II Trial of Timed Sequential Cytosine Arabinoside (Ara-C) With and Without the Checkpoint Kinase 1 (CHK1) Inhibitor MK-8776 in Adults With Relapsed AML Completed NCT01870596 Phase 2 Cytarabine;CHK1 Inhibitor SCH 900776
14 Phase II Study of Alvocidib (NSC 649890, Flavopiridol) in Timed Sequential Combination With Cytosine Arabinoside (Ara-C) and Mitoxantrone for Adults With Newly Diagnosed, Previously Untreated, Poor-Risk Acute Myelogenous Leukemias Completed NCT00407966 Phase 2 alvocidib;cytarabine;mitoxantrone hydrochloride
15 Phase II Studies of Two Different Schedules and Two Different Doses of the Farnesyl Transferase Inhibitor R115777 (Tipifarnib, Zarnestra®, NSC-702818) for Previously Untreated Acute Myeloid Leukemia (AML) in Patients of Age 70 or Older Completed NCT00093418 Phase 2 tipifarnib
16 Umbilical Cord Blood (UCB) Allogeneic Stem Cell Transplant for Hematologic Malignancies Completed NCT01093586 Phase 2 busulfan;cyclophosphamide;anti-thymocyte globulin;methylprednisolone;cyclosporine;mycophenolate mofetil
17 PHASE I-II STUDY OF IDARUBICIN, CYTARABINE AND R115777 (TIPIFARNIB, ZARNESTRA; 702818; IND 58359), A FARNESYLTRANSFERASE INHIBITOR, IN PATIENTS WITH HIGH-RISK MYELODYSPLASTIC SYNDROMES AND ACUTE MYELOID LEUKEMIAS Completed NCT00096122 Phase 1, Phase 2 cytarabine;idarubicin;tipifarnib
18 A Phase II Study of Farnesyl Transferase Inhibitor R115777 (Zarnestra) (R115777 ( Zarnestra), Tipifarnib, R115777, NSC #702818) in Elderly Patients With Previously Untreated Poor-Risk Acute Myeloid Leukemia Completed NCT00027872 Phase 2 tipifarnib
19 A Randomized Phase II Trial of Tipifarnib (R115777, ZARNESTRA, NSC #702818) in Combination With Oral Etoposide (VP-16) in Elderly Adults With Newly Diagnosed, Previously Untreated Acute Myelogenous Leukemia (AML) Completed NCT00602771 Phase 2 tipifarnib;etoposide
20 A Phase II Study of Lenalidomide (REVLIMID, NSC-703813) for Previously Untreated Non-M3, Deletion 5q Acute Myeloid Leukemia (AML) in Patients Age 60 or Older Who Decline Remission Induction Chemotherapy Completed NCT00352365 Phase 2 lenalidomide
21 A Phase 2 Study of Suberoylanilide Hydroxamic Acid (SAHA) in Acute Myeloid Leukemia (AML) Completed NCT00305773 Phase 2 vorinostat
22 A Phase 1/2 Study of Vorinostat (Zolinza®) in Combination With Gemtuzumab Ozogamicin (Mylotarg®) and Azacitidine (Vidaza®) in Patients 50 Years of Age and Older With Relapsed/Refractory Non-APL Acute Myeloid Leukemia (AML) Completed NCT00895934 Phase 1, Phase 2 vorinostat;gemtuzumab ozogamicin;azacitidine
23 Nonmyeloablative Allogeneic Peripheral Blood Stem Cell Transplantation From HLA Matched Related Donors for Treatment of Older Patients With De Novo or Secondary Acute Myeloid Leukemia in First Complete Remission Completed NCT00045435 Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
24 Phase 2 Study of Early Discharge and Outpatient Management of Adult Patients Following Intensive Chemotherapy for MDS and Non-APL AML Completed NCT01235572 Phase 2
25 A Phase 2 Study of the AKT Kinase Inhibitor MK-2206 in Patients With Relapsed Refractory Acute Myelogenous Leukemia Completed NCT01253447 Phase 2 Akt inhibitor MK2206
26 Phase 2 Trial of R115777 in Previously Untreated Older Adults With AML and Baseline Presence of a Specific 2-Gene Expression Signature Ratio Completed NCT01361464 Phase 2 Tipifarnib
27 Phase II Study of the Addition of Azacitidine (NSC#102816) to Reduced-Intensity Conditioning Allogeneic Transplantation for Myelodysplasia (MDS) and Older Patients With AML Completed NCT01168219 Phase 2 Azacitidine;Busulfan;Fludarabine Phosphate;Methotrexate;Tacrolimus
28 High-dose Busulfan, High-dose Cyclophosphamide, and Allogeneic Bone Marrow Transplantation for Leukemia, Myelodysplastic Syndromes, Multiple Myeloma and Lymphoma Completed NCT01177371 Phase 2 busulfan;cyclophosphamide;methylprednisolone;methotrexate;cyclosporine
29 NK Cells With HLA Compatible Hematopoietic Transplantation for High Risk Myeloid Malignancies Completed NCT01823198 Phase 1, Phase 2 Busulfan;Fludarabine Phosphate
30 A Phase II Study to Evaluate the Efficacy of Posttransplant Cyclophosphamide for Prevention of Chronic Graft-versus-Host Disease After Allogeneic Peripheral Blood Stem Cell Transplantation Completed NCT01427881 Phase 2 cyclophosphamide;cyclosporine;fludarabine phosphate;busulfan
31 A Phase II Pilot Study of Bortezomib (PS-341, Velcade) Combined With Reinduction Chemotherapy in Children and Young Adults With Recurrent, Refractory or Secondary Acute Myeloid Leukemia Completed NCT00666588 Phase 2 idarubicin;cytarabine;bortezomib;etoposide
32 Infusion of Off-the-Shelf Ex Vivo Expanded Cryopreserved Progenitor Cells to Facilitate the Engraftment of a Single CCR5Δ32 Homozygous or Heterozygous Cord Blood Unit in Patients With HIV and Hematological Malignancies Recruiting NCT04083170 Phase 2 Fludarabine;Cyclophosphamide;Thiotepa
33 A Phase II Trial of Azacitidine (NSC-102816) Plus Gemtuzumab Ozogamicin (NSC-720568) as Induction and Post-Remission Therapy in Patients of Age 60 and Older With Previously Untreated Non-M3 Acute Myeloid Leukemia Active, not recruiting NCT00658814 Phase 2 Azacitidine;Gemtuzumab Ozogamicin
34 A Phase 1/2 Study of Vorinostat [Suberoylanilide Hydroxamic Acid (SAHA)] in Combination With Azacitidine in Patients With the Myelodysplastic Syndrome (MDS) Active, not recruiting NCT00392353 Phase 1, Phase 2 Azacitidine;Vorinostat
35 A Single Arm, Phase II Study of Eltrombopag to Enhance Platelet Count Recovery in Elderly Patients With Acute Myeloid Leukemia Undergoing Remission Induction Therapy Active, not recruiting NCT02071901 Phase 2 eltrombopag olamine
36 Phase II Trial of Vorinostat (Suberoylanilide Hydroxamic Acid or SAHA; Zolinza™) in Combination With Gemtuzumab Ozogamicin (Mylotarg™) as Induction and Post-Remission Therapy in Older Patients With Previously Untreated Non-M3 Acute Myeloid Leukemia Terminated NCT00673153 Phase 2 gemtuzumab ozogamicin;vorinostat
37 OAG and Decitabine for Newly Diagnosed Acute Myeloid Leukemia Patients Greater Than or Equal to 65 Years of Age Terminated NCT02029417 Phase 2 cytarabine;omacetaxine mepesuccinate;decitabine
38 A Phase 2 Study of Single-Agent MLN9708 for the Treatment of Relapsed or Refractory Acute Myeloid Leukemia With Mutated Nucleophosmin-1 Terminated NCT02030405 Phase 2 Ixazomib
39 Randomized Phase II Trial of Idarubicin + Ara-C +/- Bevacizumab in Patients Age < 60 With Untreated Acute Myeloid Leukemia Terminated NCT00096148 Phase 2 idarubicin;cytarabine
40 Phase II Trial Examining Epigenetic Priming With Decitabine Followed by Idarubicin and Cytarabine for Patients With Relapsed or Refractory AML. Terminated NCT01607645 Phase 2 decitabine;idarubicin;cytarabine
41 A Phase 2 Study of EMD 121974 as Maintenance Therapy for Patinets With Acute Myeloid Leukemia in Complete Remission Terminated NCT00089388 Phase 2 cilengitide
42 Vitamin D3 Supplementation in Acute Myeloid Leukemia: Pharmacokinetic Study Terminated NCT01521936 Phase 2
43 Cyclosporine Modulation of Drug Resistance in Combination With Pravastatin, Mitoxantrone, and Etoposide for Adult Patients With Relapsed/Refractory Acute Myeloid Leukemia (AML): A Phase 1/2 Study Terminated NCT01342887 Phase 1, Phase 2 cyclosporine;pravastatin sodium;mitoxantrone hydrochloride;etoposide
44 A Phase II Study of Arsenic Trioxide in Patients With Relapsed and/or Refractory Acute Myeloid Leukemia (AML) and Mutated Nucleophosmin 1 (NPM1) Gene Withdrawn NCT01835288 Phase 2 arsenic trioxide
45 Phase I Investigation of the Feasibility of Combining 5-azacytidine With Highdose Cytarabine (HiDAC) and Mitoxantrone Chemotherapy in a Sequential Manner for Remission Induction in High-risk Acute Myelogenous Leukemia (AML) Completed NCT01839240 Phase 1 azacitidine;cytarabine;mitoxantrone hydrochloride
46 Phase I Study of a Pharmacologically Derived Hybrid Bolus-Infusion Schedule of Flavopiridol (NSC 649890, IND 46,211) Given in Timed Sequential Combination With Cytosine Arabinoside (Ara-C) and Mitoxantrone for Adults With Relapsed and Refractory Acute Leukemias Completed NCT00470197 Phase 1 alvocidib;cytarabine;mitoxantrone hydrochloride
47 A Phase I Dose-Escalation Study of R115777 (Tipifarnib) Plus PS-341 (Bortezomib) in Relapsed or Refractory Acute Leukemias Completed NCT00383474 Phase 1 Bortezomib;Tipifarnib
48 Phase I and Pharmacodynamic Study of SB-715992 in Acute Leukemias Completed NCT00098826 Phase 1 ispinesib
49 A Phase I Study of Bortezomib in Combination With MEC (Mitoxantrone, Etoposide, and Intermediate-Dose Cytarabine) for Relapsed/ Refractory Acute Myelogenous Leukemia (AML) Completed NCT01127009 Phase 1 bortezomib;mitoxantrone hydrochloride;etoposide;cytarabine
50 A Phase I Trial of Oral Etoposide in Combination With the Farnesyltransferase Inhibitor R115777 (ZARNESTRA, Tipifarnib, NSC #702818, IND #58,359) in Elderly Adults With Newly Diagnosed Acute Myelogenous Leukemia (AML) Completed NCT00112853 Phase 1 tipifarnib;etoposide

Search NIH Clinical Center for Acute Megakaryocytic Leukemia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Acute Megakaryocytic Leukemia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Acute Megakaryocytic Leukemia:
Hematopoietic stem cells for treatment of hematologic malignancies
Peripheral blood stem cells for treatment of hematologic malignancies
Embryonic/Adult Cultured Cells Related to Acute Megakaryocytic Leukemia:
Bone marrow-derived hematopoietic stem cells
Peripheral blood-derived hematopoietic stem cells (family)

Cochrane evidence based reviews: leukemia, megakaryoblastic, acute

Sources

Genetic Tests for Acute Megakaryocytic Leukemia

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Genetic tests related to Acute Megakaryocytic Leukemia:

# Genetic test Affiliating Genes
1 Acute Megakaryoblastic Leukemia 28
Sources

Anatomical Context for Acute Megakaryocytic Leukemia

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Organs/tissues related to Acute Megakaryocytic Leukemia:

MalaCards : Myeloid, Bone Marrow, Bone, Skin, Brain, Nk Cells, T Cells
Sources

Publications for Acute Megakaryocytic Leukemia

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Articles related to Acute Megakaryocytic Leukemia:

(show top 50) (show all 1053)
# Title Authors PMID Year
1
Activating alleles of JAK3 in acute megakaryoblastic leukemia. 53 62 5
16843266 2006
2
The GATA1 mutation in an adult patient with acute megakaryoblastic leukemia not accompanying Down syndrome. 53 62 5
15070711 2004
3
Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome. 62 5
18397343 2008
4
The MLL recombinome of acute leukemias in 2017. 5
28701730 2018
5
A rare case of GATA1 negative chemoresistant acute megakaryocytic leukemia in an 8-month-old infant with trisomy 21. 53 62
20108342 2010
6
Megakaryocytic blast crisis in a chronic myeloid leukemia patient with a rare variant of Philadelphia rearrangement t(9;22;22) and a constitutional translocation t(3;7). 53 62
20417868 2010
7
NSC114792, a novel small molecule identified through structure-based computational database screening, selectively inhibits JAK3. 53 62
20149240 2010
8
JAK3: a two-faced player in hematological disorders. 53 62
19747563 2009
9
Mutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in Down syndrome. 53 62
19633202 2009
10
Induction of hyperproliferative fetal megakaryopoiesis by an N-terminally truncated GATA1 mutant. 53 62
19682090 2009
11
GATA-2 reinforces megakaryocyte development in the absence of GATA-1. 53 62
19620289 2009
12
Vesiculopustular eruption associated with transient myeloproliferative disorder. 53 62
19537279 2009
13
Role for MKL1 in megakaryocytic maturation. 53 62
19136660 2009
14
A novel mutation in the GATA1 gene associated with acute megakaryoblastic leukemia in a Korean Down syndrome patient. 53 62
19119459 2008
15
Tetrasomy 21 as a sole acquired abnormality without GATA1 gene mutation in pediatric acute megakaryoblastic leukemia: a case report and review of the literature. 53 62
18372039 2008
16
JAKs in pathology: role of Janus kinases in hematopoietic malignancies and immunodeficiencies. 53 62
18682296 2008
17
The role of the proto-oncogene ETS2 in acute megakaryocytic leukemia biology and therapy. 53 62
18094719 2008
18
Mining for JAK-STAT mutations in cancer. 53 62
18291658 2008
19
JAK and MPL mutations in myeloid malignancies. 53 62
18297515 2008
20
Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome. 53 62
17576817 2007
21
Severe TMD/AMKL with GATA1 mutation in a stillborn fetus with Down syndrome. 53 62
17597708 2007
22
JAK3 mutations occur in acute megakaryoblastic leukemia both in Down syndrome children and non-Down syndrome adults. 53 62
17252020 2007
23
[The role of GATA1 mutation in acute megakaryocytic leukemia]. 53 62
17176883 2006
24
CD36 (thrombospondin receptor) expression in childhood acute megakaryoblastic leukemia: in vitro drug sensitivity and outcome. 53 62
17071479 2006
25
Physical association of the patient-specific GATA1 mutants with RUNX1 in acute megakaryoblastic leukemia accompanying Down syndrome. 53 62
16628190 2006
26
Acute megakaryoblastic leukemia and loss of the RUNX1 gene. 53 62
16364766 2006
27
Early block to erythromegakaryocytic development conferred by loss of transcription factor GATA-1. 53 62
16144799 2006
28
GATA 1 mutations as clonal markers of minimal residual disease in acute megakaryoblastic leukemia of Down syndrome--a new tool with significant potential applications. 53 62
15925405 2005
29
GATA1 as a new target to detect minimal residual disease in both transient leukemia and megakaryoblastic leukemia of Down syndrome. 53 62
15916804 2005
30
MLL-MLLT10 fusion gene in pediatric acute megakaryoblastic leukemia. 53 62
16111539 2005
31
Differential requirements for the activation domain and FOG-interaction surface of GATA-1 in megakaryocyte gene expression and development. 53 62
15860665 2005
32
Increased dosage of Runx1/AML1 acts as a positive modulator of myeloid leukemogenesis in BXH2 mice. 53 62
15856017 2005
33
GATA transcription factors in hematologic disease. 53 62
16158817 2005
34
GATA1, cytidine deaminase, and the high cure rate of Down syndrome children with acute megakaryocytic leukemia. 53 62
15687366 2005
35
GATA1 in normal and malignant hematopoiesis. 53 62
15659348 2005
36
GATA1 mutations in Down syndrome: implications for biology and diagnosis of children with transient myeloproliferative disorder and acute megakaryoblastic leukemia. 53 62
15390312 2005
37
Down syndrome, drug metabolism and chromosome 21. 53 62
15390307 2005
38
Interleukin-11 as an osteoprotegerin-inducing factor in culture medium of blastic cells from a patient with acute megakaryocytic leukemia complicated with osteosclerosis. 53 62
15307108 2004
39
No mutations in the GATA-1 gene detected in patients with acquired essential thrombocythemia. 53 62
15136229 2004
40
Recent insights into the mechanisms of myeloid leukemogenesis in Down syndrome. 53 62
14512321 2004
41
Fetal origin of the GATA1 mutation in identical twins with transient myeloproliferative disorder and acute megakaryoblastic leukemia accompanying Down syndrome. 53 62
14684662 2004
42
p-Iodophenol-enhanced luminol chemiluminescent assay applied to discrimination between acute lymphoblastic and minimally differentiated acute myeloid (FAB-M0) or acute megakaryoblastic (FAB-M7) leukemias. 53 62
15570291 2004
43
Mutations in GATA1 in both transient myeloproliferative disorder and acute megakaryoblastic leukemia of Down syndrome. 53 62
14636651 2003
44
GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. 53 62
12586620 2003
45
Transcriptional regulation of the cystathionine-beta -synthase gene in Down syndrome and non-Down syndrome megakaryocytic leukemia cell lines. 53 62
12393509 2003
46
Identification of a novel transcriptional activator, BSAC, by a functional cloning to inhibit tumor necrosis factor-induced cell death. 53 62
12019265 2002
47
Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. 53 62
11431691 2001
48
Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia. 53 62
11344311 2001
49
Expression of the receptor MPL and proliferative effects of its ligand thrombopoietin on human leukemia cells. 53 62
8637239 1996
50
Detection of platelet-specific protein mRNAs in different megakaryoblasts using the reverse transcriptase polymerase chain reaction. 53 62
1493450 1992
Sources

Variations for Acute Megakaryocytic Leukemia

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ClinVar genetic disease variations for Acute Megakaryocytic Leukemia:

5 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATA1 NM_002049.4(GATA1):c.154_173dup (p.Ala59fs) DUP Pathogenic
 10429 rs398124628 GRCh37: X:48649667-48649668
GRCh38: X:48791260-48791261
2 PTEN NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) SNV Pathogenic
 183726 rs786201044 GRCh37: 10:89692922-89692922
GRCh38: 10:87933165-87933165
3 TP53 NM_000546.6(TP53):c.636del (p.Arg213fs) DEL Pathogenic
 218342 rs864309495 GRCh37: 17:7578213-7578213
GRCh38: 17:7674895-7674895
4 KMT2A, SEPTIN9 t(11;17)(q23;q25) TRANS Pathogenic
 590282 GRCh37:
GRCh38: 11:118482092-118482093
5 JAK3 NM_000215.4(JAK3):c.1503G>T (p.Gln501His) SNV Likely Pathogenic
 376114 rs201283129 GRCh37: 19:17949138-17949138
GRCh38: 19:17838329-17838329
6 JAK3 NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) SNV Likely Pathogenic
 134580 rs3212723 GRCh37: 19:17954215-17954215
GRCh38: 19:17843406-17843406
7 JAK3 NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) SNV Likely Pathogenic
 134573 rs3213409 GRCh37: 19:17945696-17945696
GRCh38: 19:17834887-17834887
8 JAK3 NM_000215.4(JAK3):c.1970G>A (p.Arg657Gln) SNV Likely Pathogenic
 376113 rs758959409 GRCh37: 19:17945969-17945969
GRCh38: 19:17835160-17835160
9 JAK3 NM_000215.4(JAK3):c.1715C>T (p.Ala572Val) SNV Likely Pathogenic
 376037 rs121913504 GRCh37: 19:17948009-17948009
GRCh38: 19:17837200-17837200
10 JAK3 NM_000215.4(JAK3):c.1503G>C (p.Gln501His) SNV Likely Pathogenic
 376115 rs201283129 GRCh37: 19:17949138-17949138
GRCh38: 19:17838329-17838329
11 JAK3 NM_000215.4(JAK3):c.260T>C (p.Ile87Thr) SNV Likely Pathogenic
 376116 rs1057519770 GRCh37: 19:17954634-17954634
GRCh38: 19:17843825-17843825
12 RASAL3 NM_022904.3(RASAL3):c.-5C>G SNV Uncertain Significance
 218343 rs76267899 GRCh37: 19:15575174-15575174
GRCh38: 19:15464363-15464363
13 ACP3 NM_001099.5(ACP3):c.849CAT[1] (p.Ile284del) MICROSAT Uncertain Significance
 218346 rs864309497 GRCh37: 3:132068830-132068832
GRCh38: 3:132349986-132349988
14 PCF11 NM_001346413.3(PCF11):c.3618del (p.Phe1206fs) DEL Uncertain Significance
 218347 rs864309498 GRCh37: 11:82880600-82880600
GRCh38: 11:83169558-83169558
15 MT-ND6 NC_012920.1:m.14372C>A SNV Uncertain Significance
 218344 rs1556424431 GRCh37: MT:14372-14372
GRCh38: MT:14372-14372
16 MDGA1 NM_153487.4(MDGA1):c.2674T>G (p.Phe892Val) SNV Uncertain Significance
 218340 rs864309493 GRCh37: 6:37606083-37606083
GRCh38: 6:37638307-37638307
17 SLC9A2 NM_003048.6(SLC9A2):c.2173del (p.Gln725fs) DEL Uncertain Significance
 218345 rs864309496 GRCh37: 2:103324677-103324677
GRCh38: 2:102708218-102708218
18 CORO7-PAM16, CORO7 NM_024535.5(CORO7):c.2772+50C>T SNV Uncertain Significance
 218341 rs1555468179 GRCh37: 16:4405237-4405237
GRCh38: 16:4355236-4355236

Copy number variations for Acute Megakaryocytic Leukemia from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 158678 21 35304204 35704075 Loss RUNX1 Acute megakaryoblastic leukaemia
Sources

Expression for Acute Megakaryocytic Leukemia

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Search GEO for disease gene expression data for Acute Megakaryocytic Leukemia.
Sources

Pathways for Acute Megakaryocytic Leukemia

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Pathways related to Acute Megakaryocytic Leukemia according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Signal Transduction 66
13.59 CSF2 IL3 JAK3 MRTFA PF4 PTEN
2
ERK Signaling 64
Show member pathways
 13.54 TP53 THPO SRF PTEN PF4 JAK3
3
Akt Signaling 64
Show member pathways
 13.18 CSF2 IL11 IL3 JAK3 PF4 PTEN
4
Assembly of the pre-replicative complex 66
Show member pathways
 12.92 RUNX1 PF4 KMT2A IL3 GATA1 CSF2
5
NF-kappaB Signaling 3
12.15 RUNX1 MRTFA MPO JAK3 IL3 GATA1
6
Interleukin-4 and Interleukin-13 signaling 66
11.78 TP53 JAK3 CD36
7
C-MYB transcription factor network 61
11.62 MPO GATA1 ETS2
8
Senescence and autophagy in cancer 74
11.58 TP53 PTEN KMT2A IL3
9
AP-1 transcription factor network 61
11.51 TP53 PTEN CSF2
10
Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers 65
11.48 THPO RUNX1 IL3 IL11 GATA1
11
IL-18 signaling pathway 74
11.35 TP53 PTEN GATA1
12
RhoA signaling pathway 61
11.19 SRF PTEN MRTFA
13
Hematopoietic Stem Cells and Lineage-specific Markers 65
11.16 THPO MPO IL3 IL11 CSF2 CD36
14
Cytokines and inflammatory response 74
10.96 CSF2 IL11 IL3
15
ncRNAs involved in STAT3 signaling in hepatocellular carcinoma 74
10.84 JAK3 IL11
16
LDL Oxidation in Atherogenesis 64
10.78 MPO CD36
17
G-protein signaling_Rap2B regulation pathway 22
10.78 THPO SEPTIN9 PF4 IL3 IL11 CSF2
18
RUNX1 regulates transcription of genes involved in differentiation of myeloid cells 66
Show member pathways
 10.6 RUNX1 CSF2
19
RUNX1 regulates transcription of genes involved in BCR signaling 66
Show member pathways
 10.59 RUNX1 IL3
Sources

GO Terms for Acute Megakaryocytic Leukemia

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Biological processes related to Acute Megakaryocytic Leukemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.36 TP53 SRF RUNX1 PF4 MRTFA KMT2A
2 cellular response to lipopolysaccharide GO:0071222 10.07 CD36 CSF2 GATA1 PF4 THPO
3 positive regulation of miRNA transcription GO:1902895 9.95 TP53 SRF MRTFA
4 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.91 PF4 GATA1 CSF2
5 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.8 PF4 CSF2 CD36
6 thrombopoietin-mediated signaling pathway GO:0038163 9.76 THPO RBM15
7 embryonic hemopoiesis GO:0035162 9.65 KMT2A IL3 GATA1
8 megakaryocyte differentiation GO:0030219 9.63 GATA1 IL11 THPO
9 cell population proliferation GO:0008283 9.61 TP53 THPO PTEN IL11 GATA1 CSF2
10 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.32 TP53 IL3 IL11 GATA1 CD36

Molecular functions related to Acute Megakaryocytic Leukemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.56 THPO IL3 IL11 CSF2
2 cytokine activity GO:0005125 9.28 THPO PF4 IL3 IL11 CSF2
Sources

Sources for Acute Megakaryocytic Leukemia

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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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