Acute Megakaryocytic Leukemia (AMKL)

Categories: Blood diseases, Cancer diseases, Cardiovascular diseases, Immune diseases, Rare diseases

Aliases & Classifications for Acute Megakaryocytic Leukemia

MalaCards integrated aliases for Acute Megakaryocytic Leukemia:

Name: Acute Megakaryocytic Leukemia 12 20 58 37
Acute Megakaryoblastic Leukemia 20 58 29 6
Acute Megakaryoblastic Leukaemia 17 32
Acute Myeloid Leukemia M7 20 58
Aml M7 20 58
Amkl 20 58
Acute Myeloblastic Leukemia Type 7 20
Leukemia, Megakaryoblastic, Acute 44
Megakaryoblastic Leukemia Acute 54
Megakaryocytic Myelosis 12
Megakaryocytic Leukemia 15
Thrombocytic Leukaemia 12


Orphanet epidemiological data:

acute megakaryoblastic leukemia
Inheritance: Not applicable; Age of onset: Childhood;


Orphanet: 58  
Rare haematological diseases

External Ids:

Disease Ontology 12 DOID:8761
ICD9CM 34 207.2
MeSH 44 D007947
NCIt 50 C3170
SNOMED-CT 67 52220008
ICD10 32 C94.2
ICD10 via Orphanet 33 C94.2
UMLS via Orphanet 72 C0023462
Orphanet 58 ORPHA518
UMLS 71 C0023462

Summaries for Acute Megakaryocytic Leukemia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 518DefinitionA 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Acute Megakaryocytic Leukemia, also known as acute megakaryoblastic leukemia, is related to megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) and acute leukemia. An important gene associated with Acute Megakaryocytic Leukemia is GATA1 (GATA Binding Protein 1), and among its related pathways/superpathways are PEDF Induced Signaling and ERK Signaling. The drugs Etoposide and Lenograstim 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 hematopoietic system

Disease Ontology : 12 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 : 74 Acute megakaryoblastic leukemia (AMKL) is life-threatening leukemia in which malignant megakaryoblasts... more...

Related Diseases for Acute Megakaryocytic Leukemia

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

(show top 50) (show all 243)
# Related Disease Score Top Affiliating Genes
1 megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) 31.2 RBM15 MRTFA
2 acute leukemia 31.2 THPO RUNX1 MPO KMT2A IL3 GATA1
3 leukemia 31.2 TP53 THPO RUNX1 MRTFA KMT2A JAK3
4 myelofibrosis 31.1 TP53 THPO RUNX1 MPO JAK3 IL3
5 pancytopenia 31.0 TP53 THPO RUNX1 KMT2A IL3 CSF2
6 thrombocytopenia 31.0 THPO RUNX1 PTEN PF4 IL3 IL11
7 neuroblastoma 30.8 TP53 RBM15 PTEN CSF2 CASP3 ANXA5
8 myeloid leukemia 30.8 TP53 RUNX1 MPO KMT2A IL3 CSF2
9 leukemia, acute myeloid 30.8 TP53 THPO RUNX1 RBM15 PTEN MPO
10 childhood leukemia 30.8 TP53 RUNX1 MPO KMT2A JAK3 AKT1
11 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 30.7 RUNX1 MPO KMT2A
12 leukemia, acute monocytic 30.7 MPO KMT2A ANXA5
13 myeloproliferative syndrome, transient 30.6 TP53 THPO RBM15 JAK3 GATA1
14 hepatoblastoma 30.6 TP53 THPO CASP3 AKT1
15 monocytic leukemia 30.6 RUNX1 MPO KMT2A CSF2 CASP3
16 myeloproliferative neoplasm 30.6 THPO RUNX1 MPO KMT2A JAK3 IL3
17 thrombocytosis 30.6 THPO PF4 IL3 IL11 CSF2
18 polycythemia vera 30.5 THPO PF4 JAK3 IL3 CSF2
19 peripheral nervous system disease 30.5 TP53 PTEN CSF2 CASP3 ANXA5 AKT1
20 hematologic cancer 30.5 THPO RUNX1 KMT2A IL3 IL11 CSF2
21 neutropenia 30.4 TP53 THPO MPO IL3 IL11 CSF2
22 chronic myelomonocytic leukemia 30.4 TP53 RUNX1 MPO KMT2A CSF2
23 essential thrombocythemia 30.4 TP53 THPO PF4 MPO IL3 IL11
24 fanconi anemia, complementation group a 30.3 TP53 THPO PTEN IL3 CASP3
25 acute promyelocytic leukemia 30.2 TP53 THPO RUNX1 PTEN MPO KMT2A
26 leukemia, chronic myeloid 30.1 TP53 THPO RUNX1 MPO KMT2A IL3
27 myelodysplastic syndrome 30.1 TP53 THPO RUNX1 PTEN MPO KMT2A
28 leukemia, acute lymphoblastic 30.0 TP53 THPO RUNX1 PTEN MPO KMT2A
29 childhood acute megakaryoblastic leukemia 11.2
30 myeloid leukemia associated with down syndrome 11.2
31 down syndrome 10.6
32 neonatal leukemia 10.5 RBM15 MRTFA GATA1
33 germ cells tumors 10.5
34 childhood t-cell acute lymphoblastic leukemia 10.5 PTEN ANXA5 AKT1
35 acute basophilic leukemia 10.5 MPO GATA1
36 leukemia, acute lymphoblastic 3 10.5 TP53 RUNX1 KMT2A
37 skin papilloma 10.5 TP53 PTEN AKT1
38 amegakaryocytic thrombocytopenia, congenital 10.5 THPO IL3 GATA1
39 lung oat cell carcinoma 10.5 TP53 PTEN AKT1
40 penile disease 10.5 TP53 PTEN AKT1
41 respiratory system benign neoplasm 10.5 TP53 PTEN AKT1
42 ovarian cystadenocarcinoma 10.5 TP53 PTEN AKT1
43 uterine benign neoplasm 10.5 TP53 PTEN AKT1
44 reproductive organ benign neoplasm 10.5 TP53 PTEN AKT1
45 uterine corpus cancer 10.5 TP53 PTEN AKT1
46 thymus gland disease 10.5 TP53 PTEN AKT1
47 oropharynx cancer 10.5 TP53 PTEN CASP3 AKT1
48 splenic artery aneurysm 10.5 THPO MPO
49 thymus cancer 10.5 TP53 PTEN AKT1
50 cervix carcinoma 10.5 TP53 CASP3 ANXA5 AKT1

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

Diseases related to Acute Megakaryocytic Leukemia

Symptoms & Phenotypes for Acute Megakaryocytic Leukemia

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

# 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:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.4 AKT1 ANXA5 CASP3 CSF2 GATA1 JAK3
2 cardiovascular system MP:0005385 10.36 AKT1 CASP3 CSF2 ETS2 GATA1 JAK3
3 cellular MP:0005384 10.35 AKT1 CASP3 CSF2 ETS2 GATA1 JAK3
4 homeostasis/metabolism MP:0005376 10.35 AKT1 CASP3 CSF2 ETS2 GATA1 KMT2A
5 immune system MP:0005387 10.33 AKT1 ANXA5 CASP3 CSF2 GATA1 JAK3
6 mortality/aging MP:0010768 10.28 AKT1 CASP3 CSF2 ETS2 GATA1 JAK3
7 embryo MP:0005380 10.22 AKT1 CSF2 ETS2 GATA1 KMT2A PTEN
8 endocrine/exocrine gland MP:0005379 10.21 AKT1 CASP3 CSF2 ETS2 JAK3 MRTFA
9 integument MP:0010771 10.17 AKT1 CASP3 CSF2 ETS2 GATA1 KMT2A
10 muscle MP:0005369 9.97 AKT1 CASP3 KMT2A MPO MRTFA PTEN
11 neoplasm MP:0002006 9.92 AKT1 CSF2 ETS2 KMT2A PTEN RBM15
12 normal MP:0002873 9.81 AKT1 ANXA5 ETS2 GATA1 KMT2A PTEN
13 no phenotypic analysis MP:0003012 9.8 CASP3 ETS2 KMT2A RBM15 RUNX1 SRF
14 respiratory system MP:0005388 9.61 AKT1 CASP3 CSF2 GATA1 PTEN RUNX1
15 skeleton MP:0005390 9.32 AKT1 ANXA5 CASP3 CSF2 GATA1 KMT2A

Drugs & Therapeutics for Acute Megakaryocytic Leukemia

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

(show top 50) (show all 148)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Etoposide Approved Phase 3 33419-42-0 36462
Lenograstim Approved, Investigational Phase 3 135968-09-1
Busulfan Approved, Investigational Phase 3 55-98-1 2478
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
Thioguanine Approved Phase 3 154-42-7 2723601
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
Aldesleukin Approved Phase 3 110942-02-4, 85898-30-2
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
Daunorubicin Approved Phase 3 20830-81-3 30323
Clofarabine Approved, Investigational Phase 3 123318-82-1 119182
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
Aspartic acid Approved, Nutraceutical Phase 3 56-84-8 5960
tipifarnib Investigational Phase 3 192185-72-1 159324
17 Anti-Inflammatory Agents Phase 3
18 Hormone Antagonists Phase 3
19 Hormones Phase 3
20 glucocorticoids Phase 3
21 Anti-Bacterial Agents Phase 3
22 Antineoplastic Agents, Hormonal Phase 3
23 Etoposide phosphate Phase 3
24 Antibiotics, Antitubercular Phase 3
25 Dermatologic Agents Phase 3
26 Analgesics Phase 3
27 Gastrointestinal Agents Phase 3
28 Analgesics, Non-Narcotic Phase 3
29 Folic Acid Antagonists Phase 3
30 Vitamin B Complex Phase 3
31 Vitamin B9 Phase 3
32 Folate Phase 3
33 Antiemetics Phase 3
asparaginase Phase 3
35 N-Methylaspartate Phase 3
36 Anti-HIV Agents Phase 3
37 Interleukin-2 Phase 3
38 BB 1101 Phase 3
39 Hydrocortisone hemisuccinate Phase 3
40 Hydrocortisone 17-butyrate 21-propionate Phase 3
41 Hydrocortisone-17-butyrate Phase 3
42 Anti-Retroviral Agents Phase 3
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
Pomalidomide Approved Phase 2 19171-19-8
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
Idarubicin Approved Phase 2 58957-92-9 42890
Bortezomib Approved, Investigational Phase 1, Phase 2 179324-69-7 387447 93860
48 Choline magnesium trisalicylate Approved Phase 2 64425-90-7
Topotecan Approved, Investigational Phase 2 119413-54-6, 123948-87-8 60700
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904

Interventional clinical trials:

(show top 50) (show all 81)
# Name Status NCT ID Phase Drugs
1 The Treatment of Down Syndrome Children With Acute Myeloid Leukemia (AML) and Myelodysplastic Syndromes (MDS) Under the Age of 4 Years Unknown status NCT00369317 Phase 3 asparaginase;daunorubicin hydrochloride;cytarabine;thioguanine;etoposide
2 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
3 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
4 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
5 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
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 A Phase 2, Prospective, Randomized, Multicenter, Double-blind, Active-control, Parallel-group Study to Determine the Safety of and to Select a Treatment Regimen of CC-4047 (Pomalidomide) Either as Single-agent or in Combination With Prednisone to Study Further in Subjects With Myelofibrosis With Myeloid Metaplasia Completed NCT00463385 Phase 2 Pomalidomide;Prednisone;Placebo to pomalidomide;Placebo to prednisone
8 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
9 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
10 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
11 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
12 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
13 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
14 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
15 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
16 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
17 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
18 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
20 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
21 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
22 A Phase 2 Study of Suberoylanilide Hydroxamic Acid (SAHA) in Acute Myeloid Leukemia (AML) Completed NCT00305773 Phase 2 vorinostat;vorinostat
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 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
25 Umbilical Cord Blood (UCB) Allogeneic Stem Cell Transplant for Hematologic Malignancies Completed NCT01093586 Phase 2 busulfan;cyclophosphamide;anti-thymocyte globulin;methylprednisolone;cyclosporine;mycophenolate mofetil
26 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
27 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
28 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
29 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
30 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
31 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
32 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
33 Phase II Study of the Addition of Azacitidine (NSC#102816) to Reduced-Intensity Conditioning Allogeneic Transplantation for Myelodysplasia (MDS) and Older Patients With AML Active, not recruiting NCT01168219 Phase 2 Azacitidine;Busulfan;Fludarabine Phosphate;Methotrexate;Tacrolimus
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 NK Cells With HLA Compatible Hematopoietic Transplantation for High Risk Myeloid Malignancies Active, not recruiting NCT01823198 Phase 1, Phase 2 Busulfan;Fludarabine Phosphate
36 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
37 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
38 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
39 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
40 Vitamin D3 Supplementation in Acute Myeloid Leukemia: Pharmacokinetic Study Terminated NCT01521936 Phase 2
41 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
42 A Phase 2 Study of EMD 121974 as Maintenance Therapy for Patinets With Acute Myeloid Leukemia in Complete Remission Terminated NCT00089388 Phase 2 cilengitide
43 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
44 Randomized Phase II Trial of Idarubicin + Ara-C +/- Bevacizumab in Patients Age < 60 With Untreated Acute Myeloid Leukemia Terminated NCT00096148 Phase 2 idarubicin;cytarabine
45 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
46 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
47 Clofarabine in Combination With Cytarabine (Ara-C) and G-CSF Priming Followed by Infusion of Ex Vivo Expanded Cord Blood Progenitors for Patients With AML Completed NCT01031368 Phase 1 cytarabine;clofarabine;filgrastim
48 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
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 Phase I Trial of Lithium and Tretinoin for Treatment of Non-Promyelocytic Acute Myeloid Leukemia in Patients Intolerant or Relapsed/Refractory to Standard Chemotherapy. Completed NCT01820624 Phase 1 tretinoin;lithium carbonate

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.

Cochrane evidence based reviews: leukemia, megakaryoblastic, acute

Genetic Tests for Acute Megakaryocytic Leukemia

Genetic tests related to Acute Megakaryocytic Leukemia:

# Genetic test Affiliating Genes
1 Acute Megakaryoblastic Leukemia 29

Anatomical Context for Acute Megakaryocytic Leukemia

MalaCards organs/tissues related to Acute Megakaryocytic Leukemia:

Myeloid, Bone Marrow, Bone, Nk Cells, Kidney, Skin, Placenta

Publications for Acute Megakaryocytic Leukemia

Articles related to Acute Megakaryocytic Leukemia:

(show top 50) (show all 710)
# Title Authors PMID Year
The GATA1 mutation in an adult patient with acute megakaryoblastic leukemia not accompanying Down syndrome. 61 54 6
15070711 2004
A rare case of GATA1 negative chemoresistant acute megakaryocytic leukemia in an 8-month-old infant with trisomy 21. 54 61
20108342 2010
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). 54 61
20417868 2010
NSC114792, a novel small molecule identified through structure-based computational database screening, selectively inhibits JAK3. 61 54
20149240 2010
JAK3: a two-faced player in hematological disorders. 54 61
19747563 2009
GATA-2 reinforces megakaryocyte development in the absence of GATA-1. 54 61
19620289 2009
Induction of hyperproliferative fetal megakaryopoiesis by an N-terminally truncated GATA1 mutant. 54 61
19682090 2009
Mutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in Down syndrome. 54 61
19633202 2009
Vesiculopustular eruption associated with transient myeloproliferative disorder. 54 61
19537279 2009
Role for MKL1 in megakaryocytic maturation. 61 54
19136660 2009
A novel mutation in the GATA1 gene associated with acute megakaryoblastic leukemia in a Korean Down syndrome patient. 54 61
19119459 2008
Tetrasomy 21 as a sole acquired abnormality without GATA1 gene mutation in pediatric acute megakaryoblastic leukemia: a case report and review of the literature. 54 61
18372039 2008
JAKs in pathology: role of Janus kinases in hematopoietic malignancies and immunodeficiencies. 61 54
18682296 2008
JAK and MPL mutations in myeloid malignancies. 54 61
18297515 2008
Mining for JAK-STAT mutations in cancer. 61 54
18291658 2008
The role of the proto-oncogene ETS2 in acute megakaryocytic leukemia biology and therapy. 61 54
18094719 2008
Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome. 61 54
17576817 2007
Severe TMD/AMKL with GATA1 mutation in a stillborn fetus with Down syndrome. 54 61
17597708 2007
JAK3 mutations occur in acute megakaryoblastic leukemia both in Down syndrome children and non-Down syndrome adults. 61 54
17252020 2007
[The role of GATA1 mutation in acute megakaryocytic leukemia]. 61 54
17176883 2006
CD36 (thrombospondin receptor) expression in childhood acute megakaryoblastic leukemia: in vitro drug sensitivity and outcome. 54 61
17071479 2006
Activating alleles of JAK3 in acute megakaryoblastic leukemia. 61 54
16843266 2006
Physical association of the patient-specific GATA1 mutants with RUNX1 in acute megakaryoblastic leukemia accompanying Down syndrome. 61 54
16628190 2006
Acute megakaryoblastic leukemia and loss of the RUNX1 gene. 61 54
16364766 2006
Early block to erythromegakaryocytic development conferred by loss of transcription factor GATA-1. 54 61
16144799 2006
GATA 1 mutations as clonal markers of minimal residual disease in acute megakaryoblastic leukemia of Down syndrome--a new tool with significant potential applications. 61 54
15925405 2005
GATA1 as a new target to detect minimal residual disease in both transient leukemia and megakaryoblastic leukemia of Down syndrome. 54 61
15916804 2005
MLL-MLLT10 fusion gene in pediatric acute megakaryoblastic leukemia. 61 54
16111539 2005
Differential requirements for the activation domain and FOG-interaction surface of GATA-1 in megakaryocyte gene expression and development. 61 54
15860665 2005
Increased dosage of Runx1/AML1 acts as a positive modulator of myeloid leukemogenesis in BXH2 mice. 61 54
15856017 2005
GATA transcription factors in hematologic disease. 54 61
16158817 2005
GATA1, cytidine deaminase, and the high cure rate of Down syndrome children with acute megakaryocytic leukemia. 54 61
15687366 2005
GATA1 in normal and malignant hematopoiesis. 61 54
15659348 2005
GATA1 mutations in Down syndrome: implications for biology and diagnosis of children with transient myeloproliferative disorder and acute megakaryoblastic leukemia. 61 54
15390312 2005
Interleukin-11 as an osteoprotegerin-inducing factor in culture medium of blastic cells from a patient with acute megakaryocytic leukemia complicated with osteosclerosis. 61 54
15307108 2004
No mutations in the GATA-1 gene detected in patients with acquired essential thrombocythemia. 54 61
15136229 2004
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. 54 61
15570291 2004
Fetal origin of the GATA1 mutation in identical twins with transient myeloproliferative disorder and acute megakaryoblastic leukemia accompanying Down syndrome. 54 61
14684662 2004
Recent insights into the mechanisms of myeloid leukemogenesis in Down syndrome. 61 54
14512321 2004
Mutations in GATA1 in both transient myeloproliferative disorder and acute megakaryoblastic leukemia of Down syndrome. 54 61
14636651 2003
GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. 61 54
12586620 2003
Identification of a novel transcriptional activator, BSAC, by a functional cloning to inhibit tumor necrosis factor-induced cell death. 61 54
12019265 2002
Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. 54 61
11431691 2001
Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia. 61 54
11344311 2001
Detection of platelet-specific protein mRNAs in different megakaryoblasts using the reverse transcriptase polymerase chain reaction. 61 54
1493450 1992
Differentiation induction of blast cells in two cases of childhood acute megakaryoblastic leukemia in vitro by interleukin-3 and interleukin-6: an ultrastructural cytochemical study. 54 61
1655816 1991
TERT promotor variant associated with poor clinical outcome in a patient with novel RBM15-MKL1 fusion-positive pediatric acute megakaryoblastic leukemia. 61
32743872 2021
Clinical features of 35 Down syndrome patients with transient abnormal myelopoiesis at a single institution. 61
33394336 2021
Outcome and Prognostic Features in Pediatric Acute Megakaryoblastic Leukemia Without Down Syndrome: A Retrospective Study in China. 61
33257285 2020
SON inhibits megakaryocytic differentiation via repressing RUNX1 and the megakaryocytic gene expression program in acute megakaryoblastic leukemia. 61
33247227 2020

Variations for Acute Megakaryocytic Leukemia

ClinVar genetic disease variations for Acute Megakaryocytic Leukemia:

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTEN NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) SNV Pathogenic 183726 rs786201044 10:89692922-89692922 10:87933165-87933165
2 GATA1 NM_002049.3(GATA1):c.154_173dup (p.Ala59fs) Duplication Pathogenic 10429 rs398124628 X:48649667-48649668 X:48791260-48791261
3 TP53 NM_000546.5(TP53):c.636del (p.Arg213fs) Deletion Pathogenic 218342 rs864309495 17:7578213-7578213 17:7674895-7674895
4 KMT2A t(11;17)(q23;q25) Translocation Pathogenic 590282 11:118482092-118482093
5 JAK3 NM_000215.3(JAK3):c.1970G>A (p.Arg657Gln) SNV Likely pathogenic 376113 rs758959409 19:17945969-17945969 19:17835160-17835160
6 JAK3 NM_000215.3(JAK3):c.1715C>T (p.Ala572Val) SNV Likely pathogenic 376037 rs121913504 19:17948009-17948009 19:17837200-17837200
7 JAK3 NM_000215.3(JAK3):c.1503G>C (p.Gln501His) SNV Likely pathogenic 376115 rs201283129 19:17949138-17949138 19:17838329-17838329
8 JAK3 NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) SNV Likely pathogenic 134573 rs3213409 19:17945696-17945696 19:17834887-17834887
9 JAK3 NM_000215.3(JAK3):c.260T>C (p.Ile87Thr) SNV Likely pathogenic 376116 rs1057519770 19:17954634-17954634 19:17843825-17843825
10 JAK3 NM_000215.3(JAK3):c.1503G>T (p.Gln501His) SNV Likely pathogenic 376114 rs201283129 19:17949138-17949138 19:17838329-17838329
11 JAK3 NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) SNV Likely pathogenic 134580 rs3212723 19:17954215-17954215 19:17843406-17843406
12 APC NM_000038.6(APC):c.319T>G (p.Ser107Ala) SNV Uncertain significance 620613 rs1485866385 5:112102984-112102984 5:112767287-112767287
13 SLC9A2 NM_003048.6(SLC9A2):c.2173del (p.Gln725fs) Deletion Uncertain significance 218345 rs864309496 2:103324677-103324677 2:102708218-102708218
14 CORO7-PAM16 NM_024535.5(CORO7):c.2772+50C>T SNV Uncertain significance 218341 rs1555468179 16:4405237-4405237 16:4355236-4355236
15 RASAL3 NM_022904.3(RASAL3):c.-5C>G SNV Uncertain significance 218343 rs76267899 19:15575174-15575174 19:15464363-15464363
16 ACP3 NM_001099.5(ACP3):c.849_851CAT[1] (p.Ile284del) Microsatellite Uncertain significance 218346 rs864309497 3:132068830-132068832 3:132349986-132349988
17 PCF11 NM_015885.4(PCF11):c.3225del (p.Phe1075fs) Deletion Uncertain significance 218347 rs864309498 11:82880600-82880600 11:83169558-83169558
18 MT-ND6 NC_012920.1:m.14372C>A SNV Uncertain significance 218344 rs1556424431 MT:14372-14372 MT:14372-14372
19 MDGA1 NM_153487.4(MDGA1):c.2674T>G (p.Phe892Val) SNV Uncertain significance 218340 rs864309493 6:37606083-37606083 6:37638307-37638307

Copy number variations for Acute Megakaryocytic Leukemia from CNVD:

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

Expression for Acute Megakaryocytic Leukemia

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

Pathways for Acute Megakaryocytic Leukemia

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

(show all 42)
# Super pathways Score Top Affiliating Genes
Show member pathways
13.62 TP53 THPO SRF PF4 JAK3 IL3
Show member pathways
Show member pathways
13.32 TP53 JAK3 IL3 IL11 CSF2 CASP3
Show member pathways
Show member pathways
13.24 TP53 THPO PF4 JAK3 IL3 GATA1
Show member pathways
Show member pathways
Show member pathways
9 12.76 TP53 RUNX1 PTEN JAK3 IL3 CASP3
Show member pathways
12.36 TP53 PTEN JAK3 AKT1
Show member pathways
Show member pathways
12.29 JAK3 IL3 ETS2 AKT1
Show member pathways
12.28 THPO JAK3 IL3 IL11 CSF2 AKT1
15 12.25 TP53 SRF JAK3 CASP3
Show member pathways
12.25 TP53 JAK3 CASP3 AKT1
Show member pathways
12.21 TP53 PTEN CASP3 AKT1
18 12.11 TP53 PTEN CASP3 AKT1
Show member pathways
12.1 JAK3 IL3 CSF2 AKT1
Show member pathways
12.09 TP53 SRF CASP3 AKT1
21 11.98 THPO RUNX1 IL3 IL11 GATA1
22 11.92 TP53 RUNX1 MPO KMT2A IL3 CSF2
23 11.9 TP53 PTEN KMT2A IL3
24 11.85 THPO IL3 IL11 CSF2
25 11.83 THPO MPO IL3 IL11 CSF2
26 11.81 TP53 PTEN CASP3 AKT1
27 11.79 TP53 PTEN AKT1
28 11.77 TP53 CSF2 AKT1
29 11.74 MPO GATA1 ETS2
Show member pathways
11.72 IL3 CSF2 CASP3
31 11.7 TP53 CASP3 AKT1
32 11.68 TP53 PTEN AKT1
33 11.65 TP53 PTEN AKT1
Show member pathways
11.64 TP53 CASP3 AKT1
35 11.56 TP53 PTEN CASP3 AKT1
36 11.51 TP53 CASP3 AKT1
37 11.51 TP53 SRF PTEN JAK3 ETS2 CSF2
38 11.46 RUNX1 IL3 GATA1 CSF2
39 11.4 TP53 PTEN CASP3 AKT1
41 11.23 IL3 IL11 CSF2
42 10.99 THPO PF4 IL3 IL11 CSF2

GO Terms for Acute Megakaryocytic Leukemia

Cellular components related to Acute Megakaryocytic Leukemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.4 TP53 SRF RUNX1 RBM15 PTEN MRTFA

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.01 TP53 PTEN PF4 CSF2 AKT1
2 positive regulation of transcription, DNA-templated GO:0045893 9.98 TP53 SRF RUNX1 KMT2A GATA1 ETS2
3 positive regulation of cell proliferation GO:0008284 9.97 THPO PTEN IL3 IL11 CSF2 AKT1
4 heart development GO:0007507 9.91 TP53 SRF PTEN CASP3
5 negative regulation of apoptotic process GO:0043066 9.87 TP53 PTEN MPO GATA1 CASP3 ANXA5
6 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 TP53 SRF RUNX1 PF4 MRTFA KMT2A
7 response to organic substance GO:0010033 9.8 PTEN CASP3 AKT1
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.76 TP53 IL3 IL11 GATA1
9 regulation of hematopoietic stem cell differentiation GO:1902036 9.75 RUNX1 KMT2A GATA1
10 erythrocyte differentiation GO:0030218 9.71 JAK3 GATA1 CASP3
11 myeloid cell differentiation GO:0030099 9.65 RUNX1 GATA1 CSF2
12 positive regulation of macrophage differentiation GO:0045651 9.63 TRIB1 PF4
13 regulation of myeloid cell differentiation GO:0045637 9.62 RUNX1 CSF2
14 cellular response to granulocyte macrophage colony-stimulating factor stimulus GO:0097011 9.62 CSF2 AKT1
15 negative regulation of cell size GO:0045792 9.6 PTEN AKT1
16 primitive streak formation GO:0090009 9.59 SRF ETS2
17 megakaryocyte differentiation GO:0030219 9.58 IL11 GATA1
18 embryonic hemopoiesis GO:0035162 9.58 KMT2A IL3 GATA1
19 response to fluid shear stress GO:0034405 9.57 CSF2 AKT1
20 regulation of cytokine-mediated signaling pathway GO:0001959 9.56 RUNX1 IL3
21 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.56 PF4 GATA1 CSF2 AKT1
22 thrombopoietin-mediated signaling pathway GO:0038163 9.55 THPO RBM15
23 platelet formation GO:0030220 9.54 SRF GATA1 CASP3
24 cellular response to decreased oxygen levels GO:0036294 9.52 PTEN AKT1
25 positive regulation of transcription via serum response element binding GO:0010735 9.51 SRF MRTFA
26 regulation of megakaryocyte differentiation GO:0045652 9.35 RUNX1 RBM15 PF4 KMT2A GATA1
27 cytokine-mediated signaling pathway GO:0019221 9.23 TP53 PF4 JAK3 IL3 IL11 CSF2

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

# Name GO ID Score Top Affiliating Genes
1 proximal promoter sequence-specific DNA binding GO:0000987 9.33 TP53 SRF GATA1
2 growth factor activity GO:0008083 9.26 THPO IL3 IL11 CSF2
3 cytokine activity GO:0005125 9.02 THPO PF4 IL3 IL11 CSF2

Sources for Acute Megakaryocytic Leukemia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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