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MCID: JVN004
MIFTS: 67

Juvenile Myelomonocytic Leukemia

Categories: Genetic diseases, Rare diseases, Cancer diseases, Blood diseases, Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Juvenile Myelomonocytic Leukemia

About this section

MalaCards integrated aliases for Juvenile Myelomonocytic Leukemia:

Name: Juvenile Myelomonocytic Leukemia 57 38 12 53 59 29 55 6 15 73
Leukemia, Juvenile Myelomonocytic 57 53 75 13
Jmml 57 53 59 75
Leukemia, Juvenile Myelomonocytic, Somatic 57
Juvenile Chronic Myelomonocytic Leukemia 59
Juvenile Chronic Myelogenous Leukemia 75
Leukemia, Juvenile Myelomonocytic ) 40
Leukemia, Myelomonocytic, Juvenile 44

Characteristics:

Orphanet epidemiological data:

59
juvenile myelomonocytic leukemia
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
one family has been reported with germline cbl mutation (last curated may 2016)


HPO:

32
juvenile myelomonocytic leukemia:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare haematological diseases


External Ids:

OMIM 57 607785
Disease Ontology 12 DOID:0050458
ICD10 33 C93.3 C93.30
MeSH 44 D054429
NCIt 50 C9233
Orphanet 59 ORPHA86834
MESH via Orphanet 45 D054429
UMLS via Orphanet 74 C0349639
ICD10 via Orphanet 34 C93.3
SNOMED-CT via HPO 69 263681008 124975008
UMLS 73 C0349639
Sources

Summaries for Juvenile Myelomonocytic Leukemia

About this section
OMIM : 57 Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (601511) hyperphosphorylation (Loh et al., 2009). (607785)

MalaCards based summary : Juvenile Myelomonocytic Leukemia, also known as leukemia, juvenile myelomonocytic, is related to noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia and noonan syndrome 3, and has symptoms including exanthema, fatigue and fever. An important gene associated with Juvenile Myelomonocytic Leukemia is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and bone marrow, and related phenotypes are juvenile myelomonocytic leukemia and Decreased viability

UniProtKB/Swiss-Prot : 75 Leukemia, juvenile myelomonocytic: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.

Wikipedia : 76 Juvenile myelomonocytic leukemia (JMML) is a serious chronic leukemia (cancer of the blood) that affects... more...

Sources

Related Diseases for Juvenile Myelomonocytic Leukemia

About this section

Diseases in the Chronic Myelomonocytic Leukemia family:

Juvenile Myelomonocytic Leukemia

Diseases related to Juvenile Myelomonocytic Leukemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 35.2 CBL PTPN11
2 noonan syndrome 3 33.1 KRAS PTPN11 SOS1
3 myelodysplastic myeloproliferative cancer 32.3 CSF2 NF1 NRAS PTPN11 SETBP1 TET2
4 leukemia 31.6 CSF2 FLT3 NF1 NRAS PTPN11 RAF1
5 leukemia, chronic myeloid 31.1 CBL CSF2 FLT3 NRAS RUNX1 SETBP1
6 chronic myelomonocytic leukemia 30.8 FLT3 RUNX1 SETBP1 TET2
7 langerhans cell histiocytosis 30.8 BRAF CSF2 NRAS
8 noonan syndrome 1 30.5 BRAF KRAS NF1 NRAS PTPN11 RAF1
9 myeloid leukemia 30.4 CSF2 FLT3 NRAS PTPN11 RUNX1 TET2
10 leukemia, acute myeloid 29.6 CSF2 FLT3 KRAS NRAS PTPN11 RUNX1
11 myelodysplastic syndrome 29.5 ARHGAP26 CSF2 FLT3 KRAS NF1 NRAS
12 noonan syndrome 4 11.2
13 noonan syndrome 5 11.2
14 noonan syndrome 6 11.2
15 noonan syndrome 7 11.2
16 noonan syndrome 8 11.2
17 noonan syndrome 9 11.2
18 noonan syndrome 10 11.2
19 cafe-au-lait spots, multiple 11.0 NF1 SOS1
20 kyasanur forest disease 10.9 KRAS RAF1
21 schimmelpenning-feuerstein-mims syndrome 10.9 KRAS NRAS
22 costello syndrome 10.9 KRAS PTPN11 SOS1
23 mucosal melanoma 10.9 BRAF NF1 NRAS
24 lentigines 10.8 BRAF PTPN11 RAF1
25 noonan syndrome with multiple lentigines 10.8 BRAF PTPN11 RAF1
26 autosomal dominant café au lait spots 10.8 NF1 PTPN11 SPRED1
27 acute myeloid leukemia with t(8;21)(q22;q22) translocation 10.8 FLT3 RUNX1
28 refractory anemia with excess blasts 10.8 SETBP1 TET2
29 villonodular synovitis 10.8 PTPN11 SOS1
30 legius syndrome 10.8 NF1 PTPN11 SPRED1
31 differentiated thyroid carcinoma 10.8 BRAF KRAS NRAS
32 pulmonary valve disease 10.8 PTPN11 SOS1 SPRED1
33 hypertelorism 10.8 BRAF PTPN11 RAF1
34 leopard syndrome 10.7 BRAF NF1 PTPN11 RAF1
35 hyperplastic polyposis syndrome 10.7 BRAF KRAS
36 severe congenital neutropenia 10.6 CSF2 PTPN11 RUNX1
37 pilocytic astrocytoma 10.6 BRAF KRAS NF1 PTPN11 RAF1
38 gastrointestinal stromal tumor 10.6 BRAF FLT3 KRAS NF1
39 lung cancer susceptibility 3 10.5 BRAF KRAS NRAS RAF1
40 myeloma, multiple 10.5 BRAF CSF2 KRAS NRAS PTPN11
41 core binding factor acute myeloid leukemia 10.5 CBL FLT3 KRAS NRAS RUNX1
42 st. louis encephalitis 10.5 KRAS RAF1
43 cardiofaciocutaneous syndrome 1 10.5 BRAF KRAS PTPN11 SOS1 SPRED1
44 pulmonic stenosis 10.4 BRAF KRAS NF1 PTPN11 RAF1 SOS1
45 hematopoietic stem cell transplantation 10.4
46 aplastic anemia 10.4 CSF2 FLT3 NRAS TET2
47 pseudo-turner syndrome 10.4
48 gastric adenocarcinoma 10.3 BRAF KRAS NRAS RAF1
49 hypertrophic cardiomyopathy 10.3 KRAS PTPN11 RAF1 SOS1
50 neurofibromatosis, type i 10.3

Graphical network of the top 20 diseases related to Juvenile Myelomonocytic Leukemia:



Diseases related to Juvenile Myelomonocytic Leukemia
Sources

Symptoms & Phenotypes for Juvenile Myelomonocytic Leukemia

About this section

Symptoms via clinical synopsis from OMIM:

57
Hematology:
juvenile myelomonocytic leukemia


Clinical features from OMIM:

607785

Human phenotypes related to Juvenile Myelomonocytic Leukemia:

32
# Description HPO Frequency HPO Source Accession
1 juvenile myelomonocytic leukemia 32 HP:0012209

UMLS symptoms related to Juvenile Myelomonocytic Leukemia:


exanthema, fatigue, fever

GenomeRNAi Phenotypes related to Juvenile Myelomonocytic Leukemia according to GeneCards Suite gene sharing:

26 (show all 47)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.22 KRAS
2 Decreased viability GR00106-A-0 10.22 KRAS
3 Decreased viability GR00173-A 10.22 FLT3
4 Decreased viability GR00221-A-1 10.22 RAF1 FLT3 KRAS NF1 NRAS
5 Decreased viability GR00221-A-2 10.22 RAF1 KRAS NF1
6 Decreased viability GR00221-A-3 10.22 NRAS
7 Decreased viability GR00221-A-4 10.22 FLT3 NF1
8 Decreased viability GR00231-A 10.22 RAF1
9 Decreased viability GR00301-A 10.22 RAF1 KRAS
10 Decreased viability GR00381-A-1 10.22 KRAS
11 Decreased viability GR00402-S-2 10.22 RAF1 FLT3 KRAS NF1 NRAS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.96 SOS1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.96 BRAF
14 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.96 RAF1 CBL
15 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.96 PTPN11
16 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.96 SOS1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.96 PTPN11
18 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.96 CBL
19 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.96 SOS1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.96 SOS1 CBL
21 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.96 PTPN11
22 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.96 RAF1 SOS1 PTPN11 BRAF NF1 CBL
23 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.96 RAF1 CBL
24 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.96 RAF1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.96 BRAF
26 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.96 BRAF
27 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.96 PTPN11
28 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.96 CBL
29 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.96 PTPN11
30 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.96 BRAF
31 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.96 CBL
32 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.96 CBL
33 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.96 BRAF
34 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.96 BRAF
35 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.96 BRAF
36 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.96 PTPN11
37 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.96 CBL
38 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.96 NF1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.96 PTPN11 BRAF
40 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.96 RAF1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.96 PTPN11
42 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.96 NF1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.96 PTPN11
44 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.96 CBL
45 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.96 NF1
46 Decreased cell migration GR00055-A-1 9.73 SOS1 CBL KRAS ARHGAP26 BRAF NF1
47 Increased cell migration GR00055-A-3 9.35 SOS1 CBL KRAS BRAF NF1

MGI Mouse Phenotypes related to Juvenile Myelomonocytic Leukemia:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.4 NRAS NF1 KRAS RAF1 PTPN11 RIT1
2 hematopoietic system MP:0005397 10.4 NF1 KRAS NRAS RAF1 PTPN11 RRAS
3 cardiovascular system MP:0005385 10.37 NF1 KRAS NRAS RUNX1 RAF1 PTPN11
4 immune system MP:0005387 10.37 NF1 KRAS NRAS RAF1 PTPN11 RRAS
5 growth/size/body region MP:0005378 10.36 NRAS FLT3 NF1 KRAS RAF1 PTPN11
6 homeostasis/metabolism MP:0005376 10.36 NRAS FLT3 NF1 KRAS RAF1 PTPN11
7 endocrine/exocrine gland MP:0005379 10.34 NF1 KRAS NRAS RUNX1 RAF1 PTPN11
8 mortality/aging MP:0010768 10.28 NRAS FLT3 NF1 KRAS RAF1 PTPN11
9 craniofacial MP:0005382 10.27 NF1 KRAS NRAS RAF1 PTPN11 SPRED1
10 embryo MP:0005380 10.22 NF1 KRAS NRAS RAF1 PTPN11 SOS1
11 integument MP:0010771 10.22 NF1 KRAS NRAS RUNX1 RAF1 PTPN11
12 neoplasm MP:0002006 10.15 NF1 KRAS NRAS RAF1 PTPN11 RRAS
13 liver/biliary system MP:0005370 10.11 NRAS NF1 KRAS RAF1 PTPN11 RUNX1
14 hearing/vestibular/ear MP:0005377 10.01 KRAS NF1 RAF1 PTPN11 CBL BRAF
15 muscle MP:0005369 10.01 NF1 KRAS RAF1 PTPN11 SOS1 ARHGAP26
16 no phenotypic analysis MP:0003012 9.92 FLT3 KRAS NRAS RAF1 PTPN11 SOS1
17 normal MP:0002873 9.86 KRAS NF1 PTPN11 NRAS RAF1 RUNX1
18 pigmentation MP:0001186 9.63 NF1 KRAS NRAS PTPN11 CBL BRAF
19 respiratory system MP:0005388 9.61 NF1 KRAS RAF1 PTPN11 RUNX1 SPRED1
20 skeleton MP:0005390 9.36 NF1 KRAS NRAS RUNX1 RAF1 PTPN11
Sources

Drugs & Therapeutics for Juvenile Myelomonocytic Leukemia

About this section

Drugs for Juvenile Myelomonocytic Leukemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 404)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
3 Alkylating Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
4 Antineoplastic Agents, Alkylating Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
5 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
6 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
7
Azacitidine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 320-67-2 9444
8
Decitabine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 2353-33-5 451668
9
Cytarabine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 147-94-4 6253
10
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
11
Cefepime Approved, Investigational Phase 3,Phase 1 88040-23-7 5479537
12
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
13
Ofloxacin Approved Phase 3 82419-36-1 4583
14
Etoposide Approved Phase 3,Phase 2,Phase 1,Not Applicable 33419-42-0 36462
15
Idarubicin Approved Phase 3,Phase 1,Phase 2,Not Applicable 58957-92-9 42890
16
Methotrexate Approved Phase 3,Phase 2,Phase 1,Not Applicable 1959-05-2, 59-05-2 126941
17
Fludarabine Approved Phase 3,Phase 2,Phase 1,Not Applicable 21679-14-1, 75607-67-9 30751
18
Lenograstim Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
19
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 1,Not Applicable 83-43-2 6741
20
Prednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 1,Not Applicable 50-24-8 5755
21
Lenalidomide Approved Phase 3,Phase 1,Phase 2 191732-72-6 216326
22
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 498142 38904
23
Melphalan Approved Phase 2, Phase 3,Phase 1,Not Applicable 148-82-3 4053 460612
24
Tacrolimus Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 104987-11-3 445643 439492
25
Mycophenolate mofetil Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 128794-94-5 5281078
26
Mycophenolic acid Approved Phase 3,Phase 2,Phase 1,Not Applicable 24280-93-1 446541
27
Thiotepa Approved, Investigational Phase 3,Phase 2,Phase 1 52-24-4 5453
28
rituximab Approved Phase 3,Phase 2,Phase 1 174722-31-7 10201696
29
Acyclovir Approved Phase 3 59277-89-3 2022
30
Daunorubicin Approved Phase 3,Phase 1,Phase 2 20830-81-3 30323
31
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
32
Thioguanine Approved Phase 3 154-42-7 2723601
33
Aldesleukin Approved Phase 3,Phase 1,Phase 2 85898-30-2, 110942-02-4
34
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2,Not Applicable 50-02-2 5743
35
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
36
Ephedrine Approved Phase 3 299-42-3 9294
37
Pseudoephedrine Approved Phase 3 90-82-4 7028
38
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
39
Dalteparin Approved Phase 3 9005-49-6
40
Heparin Approved, Investigational Phase 3,Not Applicable 9005-49-6 772 46507594
41
Ondansetron Approved Phase 3,Phase 2,Phase 1,Not Applicable 99614-02-5 4595
42
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
43
Caspofungin Approved Phase 3,Phase 2 179463-17-3, 162808-62-0 468682 2826718
44
Hydroxyurea Approved Phase 3,Phase 2 127-07-1 3657
45
Mitoxantrone Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 65271-80-9 4212
46
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
47
Guaifenesin Approved, Investigational, Vet_approved Phase 3,Not Applicable 93-14-1 3516
48
Morphine Approved, Investigational Phase 3,Not Applicable 57-27-2 5288826
49
Allopurinol Approved Phase 3,Phase 2,Phase 1 315-30-0 2094
50
Benzocaine Approved, Investigational Phase 3,Phase 2 1994-09-7, 94-09-7 2337

Interventional clinical trials:

(show top 50) (show all 457)
# Name Status NCT ID Phase Drugs
1 Busulfan and Cyclophosphamide Instead of Total Boby Irradiation (TBI) and Cyclophosphamide for Hematological Malignancies Hematocrit (HCT) Not yet recruiting NCT01339988 Phase 4 Busulfan/Cyclophosphamide
2 Low-Dose Decitabine Compared With Standard Supportive Care in Treating Older Patients With Myelodysplastic Syndrome Unknown status NCT00043134 Phase 3 decitabine
3 Donor Stem Cell Transplant With or Without Chemotherapy in Treating Children With Primary Myelodysplastic Syndrome Unknown status NCT00047268 Phase 3 cytarabine;mercaptopurine
4 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3 ketamine hydrochloride
5 Levofloxacin Compared With Cefepime in Treating Cancer Patients With Fever and Neutropenia Unknown status NCT00020865 Phase 3 cefepime hydrochloride;levofloxacin
6 Combination Chemotherapy With or Without Peripheral Stem Cell Transplantation in Treating Patients With Myelodysplastic Syndrome or Acute Myelogenous Leukemia Unknown status NCT00002926 Phase 3 cytarabine;etoposide;idarubicin
7 Supersaturated Calcium Phosphate Rinse in Preventing Oral Mucositis in Young Patients Undergoing Autologous or Donor Stem Cell Transplant Completed NCT01305200 Phase 3 supersaturated calcium phosphate rinse
8 Stem Cell Transplantation for Patients With Hematologic Malignancies Completed NCT00152139 Phase 3 Chemotherapy and antibodies
9 Haploidentical Stem Cell Transplantation for Patients With Hematologic Malignancies Completed NCT00186823 Phase 3 TBI, systemic chemotherapy and antibodies as follows:
10 A Web-Based Stem Cell Transplant Support System or Standard Care in Young Patients Undergoing Stem Cell Transplant and Their Families Completed NCT00782145 Phase 3
11 Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial Completed NCT00750009 Phase 3
12 Music Therapy or Book Discussion in Improving Quality of Life in Young Patients Undergoing Stem Cell Transplant Completed NCT00305851 Phase 3
13 Laboratory-Treated Donor Bone Marrow in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Hematologic Cancer Completed NCT00265837 Phase 3
14 Valacyclovir in Preventing Cytomegalovirus Infection in Patients Who Are Undergoing Donor Stem Cell Transplantation Completed NCT00045292 Phase 3 acyclovir;acyclovir sodium;valacyclovir
15 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;methotrexate;therapeutic hydrocortisone;thioguanine
16 Internet-Based Program With or Without Telephone-Based Problem-Solving Training in Helping Long-Term Survivors of Hematopoietic Stem Cell Transplant Cope With Late Complications Completed NCT00799461 Phase 3
17 Combination Chemotherapy With or Without Bone Marrow Transplantation in Treating Children With Acute Myelogenous Leukemia or Myelodysplastic Syndrome Completed NCT00002798 Phase 3 asparaginase;daunorubicin hydrochloride;fludarabine phosphate;therapeutic hydrocortisone;cytarabine;idarubicin;dexamethasone;thioguanine;etoposide;methotrexate;cyclophosphamide;busulfan
18 Decitabine Versus Supportive Care in Adults With Advanced-stage MDS Completed NCT00043381 Phase 3 decitabine (5-aza-2'deoxycytidine)
19 S9920 Busulfan Compared With Cyclophosphamide in Patients Undergoing Total-Body Irradiation Plus Peripheral Stem Cell Transplantation for Advanced Myelodysplastic Syndrome or Related Acute Myeloid Leukemia Completed NCT00005866 Phase 3 busulfan;cyclophosphamide;cyclosporine;methotrexate
20 Cyclosporine Eye Drops in Preventing Graft-Versus-Host Disease of the Eye in Patients Who Have Undergone Donor Stem Cell Transplant for Hematologic Cancer or Bone Marrow Failure Disorder Completed NCT00755040 Phase 3 cyclosporine ophthalmic emulsion
21 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3 American ginseng
22 Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain Completed NCT00666211 Phase 3
23 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
24 Sibling Donor Peripheral Stem Cell Transplant or Sibling Donor Bone Marrow Transplant in Treating Patients With Hematologic Cancers or Other Diseases Completed NCT00438958 Phase 3
25 Dalteparin to Prevent Complications in Cancer Patients Receiving Chemotherapy Through a Catheter Completed NCT00006083 Phase 3 Fragmin
26 Bone Marrow Transplantation in Treating Patients With Leukemia, Myelodysplasia, or Lymphoblastic Lymphoma Completed NCT00003187 Phase 2, Phase 3 cyclophosphamide;cyclosporine;cytarabine;methotrexate;methylprednisolone
27 Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment Completed NCT00006348 Phase 3 ondansetron
28 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3 caspofungin acetate;liposomal amphotericin B
29 Intensive Compared With Nonintensive Chemotherapy in Treating Older Patients With Acute Myeloid Leukemia or Myelodysplastic Syndrome Completed NCT00005823 Phase 3 cytarabine;daunorubicin hydrochloride;etoposide;hydroxyurea;idarubicin;mitoxantrone hydrochloride;thioguanine;tretinoin;valspodar
30 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3 liposomal amphotericin B
31 Treatment for Chronic Pain in Patients With Advanced Cancer Completed NCT00003687 Phase 3 dextromethorphan hydrobromide;morphine sulfate
32 Combination Chemotherapy in Treating Children With Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndrome Completed NCT00002517 Phase 3 cytarabine;daunorubicin hydrochloride;dexamethasone;etoposide;idarubicin;mitoxantrone hydrochloride;thioguanine
33 Study of ASTX727 vs IV Decitabine in MDS and CMML Recruiting NCT03306264 Phase 3 ASTX727;Dacogen
34 Pevonedistat Plus Azacitidine Versus Single-Agent Azacitidine as First-Line Treatment for Participants With Higher-Risk Myelodysplastic Syndromes (HR MDS), Chronic Myelomonocytic Leukemia (CMML), or Low-Blast Acute Myelogenous Leukemia (AML) Recruiting NCT03268954 Phase 3 Azacitidine;Pevonedistat
35 Randomized Phase III Study of Decitabine +/- Hydroxyurea (HY) Versus HY in Advanced Proliferative CMML Recruiting NCT02214407 Phase 3 Decitabine;HYDROXYUREA
36 Guadecitabine (SGI-110) vs Treatment Choice in Adults With MDS or CMML Previously Treated With HMAs Recruiting NCT02907359 Phase 3 Guadecitabine
37 Myeloablative Hematopoietic Progenitor Cell Transplantation (HPCT) for Pediatric Malignancies Recruiting NCT00619879 Phase 3 Myeloablative Chemotherapy Regimen for Lymphoid Malignancies or Cord Blood Unit Recipients;Myeloablative Chemotherapy Regimen for Non-Cord Blood Unit Recipients with Myeloid Malignancies
38 Efficacy of Oral Azacitidine Plus Best Supportive Care as Maintenance Therapy in Subjects With Acute Myeloid Leukemia in Complete Remission Active, not recruiting NCT01757535 Phase 3 300 mg Oral Azacitidine;Placebo
39 Efficacy and Safety of IV Rigosertib in MDS Patients With Excess Blasts Progressing After Azacitidine or Decitabine Active, not recruiting NCT01928537 Phase 3 rigosertib sodium
40 Randomized Study of ON 01910.Na in Refractory Myelodysplastic Syndrome Patients With Excess Blasts Active, not recruiting NCT01241500 Phase 3 ON 01910.Na
41 Lenalidomide With or Without Epoetin Alfa in Treating Patients With Myelodysplastic Syndrome and Anemia Active, not recruiting NCT00843882 Phase 3 Lenalidomide
42 Combination Chemotherapy and Donor Stem Cell Transplant in Treating Patients With Aplastic Anemia or Hematologic Cancer Active, not recruiting NCT00003816 Phase 2, Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;fludarabine phosphate;melphalan;thiotepa
43 Study of Lonafarnib Versus Placebo in Subjects With Either Myelodysplastic Syndrome (MDS) or Chronic Myelomonocytic Leukemia (CMML) (Study P02978AM3)(TERMINATED) Terminated NCT00109538 Phase 3 Lonafarnib
44 Comparison Between Cyclophosphamide and Combination of Methotrexate + Calcineurin Inhibitor for GVHD Prophylaxis Terminated NCT01749111 Phase 3 ARM A Cyclophosphamide;ARM B Calcineurin inhibitor and methotrexate
45 Donor Bone Marrow Transplant With or Without G-CSF in Treating Young Patients With Hematologic Cancer or Other Diseases Terminated NCT00450450 Phase 3
46 Mycophenolate Mofetil (MMF) for Treatment of Chronic Graft-versus-host Disease (GVHD) Terminated NCT00089141 Phase 3 mycophenolate mofetil;placebo
47 Moxifloxacin in Preventing Bacterial Infections in Patients Who Have Undergone Donor Stem Cell Transplant Terminated NCT00324324 Phase 3 moxifloxacin hydrochloride;Placebo
48 Lenalidomide in Patients With Chronic Myelomonocytic Leukemia Unknown status NCT01368757 Phase 1, Phase 2 Revlimid
49 Use of Decitabine in Myelodysplastic Syndrome (MDS) Following Azacitidine (AZA) Failure Unknown status NCT01133886 Phase 2 Decitabine
50 A Study of the Efficacy and Safety of Lenalidomide Combined to Escalating Doses of Chemotherapy in Intermediate-2-or High Risk Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML) With Del 5q Unknown status NCT00885508 Phase 2 Lenalidomide

Search NIH Clinical Center for Juvenile Myelomonocytic Leukemia

Cochrane evidence based reviews: leukemia, myelomonocytic, juvenile

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Genetic Tests for Juvenile Myelomonocytic Leukemia

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Genetic tests related to Juvenile Myelomonocytic Leukemia:

# Genetic test Affiliating Genes
1 Juvenile Myelomonocytic Leukemia 29 ARHGAP26 CBL MLLT11 NF1 PTPN11
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Anatomical Context for Juvenile Myelomonocytic Leukemia

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MalaCards organs/tissues related to Juvenile Myelomonocytic Leukemia:

41
Myeloid, Bone, Bone Marrow, T Cells, Lymph Node, Kidney, Liver
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Publications for Juvenile Myelomonocytic Leukemia

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Articles related to Juvenile Myelomonocytic Leukemia:

(show top 50) (show all 259)
# Title Authors Year
1
The long non-coding RNA landscape in juvenile myelomonocytic leukemia. ( 29858388 )
2018
2
Juvenile myelomonocytic leukemia with t(3;5)(q25;q35), Auer rods and marked myelodysplasia. ( 29496305 )
2018
3
Somatic mutations activating Wiskott-Aldrich syndrome protein concomitant with RAS pathway mutations in juvenile myelomonocytic leukemia patients. ( 29316027 )
2018
4
Integrated molecular profiling of juvenile myelomonocytic leukemia. ( 29437595 )
2018
5
Novel approaches to diagnosis and treatment of Juvenile Myelomonocytic Leukemia. ( 29279013 )
2018
6
Disease burden and conditioning regimens in ASCT1221, a randomized phase II trial in children with juvenile myelomonocytic leukemia: A Children's Oncology Group study. ( 29528181 )
2018
7
Juvenile myelomonocytic leukemia in a patient with neurofibromatosis type 1 and xanthogranulomas. ( 29600694 )
2018
8
Mutation-specific signaling profiles and kinase inhibitor sensitivities of juvenile myelomonocytic leukemia revealed by induced pluripotent stem cells. ( 29884903 )
2018
9
Juvenile myelomonocytic leukemia with prominent CD141 myeloid dendritic cell differentiation. ( 28414089 )
2017
10
Characteristics of the phenotypic abnormalities of bone marrow cells in childhood myelodysplastic syndromes and juvenile myelomonocytic leukemia. ( 27748021 )
2017
11
[Clinical Study on Treatment of Juvenile Myelomonocytic Leukemia with Haploidentical-Hematopoietic Stem Cell Transplantation]. ( 29070137 )
2017
12
Juvenile Myelomonocytic Leukemia: Profile and Outcome. ( 28755173 )
2017
13
DNA-hypomethylating agents as epigenetic therapy before and after allogeneic hematopoietic stem cell transplantation in myelodysplastic syndromes and juvenile myelomonocytic leukemia. ( 29129488 )
2017
14
Association Between Juvenile Myelomonocytic Leukemia, Juvenile Xanthogranulomas and Neurofibromatosis Type 1: Case Report and Review of the Literature. ( 28111791 )
2017
15
Juvenile myelomonocytic leukemia presenting as bilateral breast masses. ( 27717995 )
2017
16
Juvenile Myelomonocytic Leukemia in Turkey: A Retrospective Analysis of 65 Patients. ( 28179213 )
2017
17
Complete Resolution of Lymphoid Interstitial Pneumonia in a Patient With Juvenile Myelomonocytic Leukemia Treated With Allogeneic Bone Marrow Transplant: Killing 2 Birds With 1 Stone. ( 29023302 )
2017
18
RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia. ( 29259247 )
2017
19
Transient juvenile myelomonocytic leukemia in the setting of PTPN11 mutation and Noonan syndrome with secondary development of monosomy 7. ( 28084675 )
2017
20
Epigenetic dysregulation of the erythropoietic transcription factor KLF1 and the I^-like globin locus in juvenile myelomonocytic leukemia. ( 28749240 )
2017
21
Blastic transformation of juvenile myelomonocytic leukemia caused by the copy number gain of oncogenic KRAS. ( 28244637 )
2017
22
Genome-wide DNA methylation is predictive of outcome in juvenile myelomonocytic leukemia. ( 29259179 )
2017
23
Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome. ( 28098151 )
2017
24
Use of Rapamycin in a Patient With Juvenile Myelomonocytic Leukemia: A Case Report. ( 28959694 )
2017
25
Juvenile myelomonocytic leukemia in an infant with congenital human immunodeficiency virus and cytomegalovirus infection. ( 28612348 )
2017
26
Diagnostic considerations in juvenile myelomonocytic leukemia in tropical settings. ( 28263030 )
2017
27
CREBBP is a target of epigenetic, but not genetic, modification in juvenile myelomonocytic leukemia. ( 27158276 )
2016
28
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. ( 26757980 )
2016
29
Epigenetic silencing of AKAP12 in juvenile myelomonocytic leukemia. ( 26891149 )
2016
30
Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: a report from the Italian AIEOP study group. ( 26980750 )
2016
31
Anti-proliferative effects of T cells expressing a ligand-based chimeric antigen receptor against CD116 on CD34(+) cells of juvenile myelomonocytic leukemia. ( 26983639 )
2016
32
Early T-Cell Precursor Acute Lymphoblastic Leukemia in an Infant With an NRAS Q61R Mutation and Clinical Features of Juvenile Myelomonocytic Leukemia. ( 27145535 )
2016
33
MicroRNA fingerprints in juvenile myelomonocytic leukemia (JMML) identified miR-150-5p as a tumor suppressor and potential target for treatment. ( 27447965 )
2016
34
LIN28B overexpression defines a novel fetal-like subgroup of juvenile myelomonocytic leukemia. ( 26712910 )
2016
35
Sustained responses after clofarabine-based sequential allogeneic stem cell transplantation in children with high-risk, relapse and/or refractory acute myeloid leukemia or juvenile myelomonocytic leukemia: a study on behalf of the French society of bone marrow transplantation or cell therapy (SFGM-TC). ( 27184944 )
2016
36
Diagnosis and treatment of juvenile myelomonocytic leukemia. ( 27322988 )
2016
37
Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy. ( 26911351 )
2016
38
Molluscum Mimicker: Juvenile Xanthogranulomas with Associated Juvenile Myelomonocytic Leukemia. ( 27514241 )
2016
39
Bridging to transplant with azacitidine in juvenile myelomonocytic leukemia: a retrospective analysis of the EWOG-MDS study group. ( 25838281 )
2015
40
How I treat juvenile myelomonocytic leukemia. ( 25564399 )
2015
41
Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family. ( 25939664 )
2015
42
Neutrophilic figurate erythema of infancy associated with juvenile myelomonocytic leukemia. ( 25623543 )
2015
43
Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network. ( 26457648 )
2015
44
Generalized lichen nitidus associated with neurofibromatosis type 1 and juvenile myelomonocytic leukemia. ( 26341890 )
2015
45
Phase II/III trial of a pre-transplant farnesyl transferase inhibitor in juvenile myelomonocytic leukemia: a report from the Children's Oncology Group. ( 25704135 )
2015
46
Juvenile myelomonocytic leukemia. ( 25435114 )
2015
47
Neurofibromatosis type 1 diagnosed in a child based on multiple juvenile xanthogranulomas and juvenile myelomonocytic leukemia. ( 25516272 )
2015
48
Criteria for evaluating response and outcome in clinical trials for children with juvenile myelomonocytic leukemia. ( 25552679 )
2015
49
Nonsyndromic Juvenile Myelomonocytic Leukemia With PTPN11 Mutation in a 9-Year-old Girl. ( 26181421 )
2015
50
Transplantation for juvenile myelomonocytic leukemia: a retrospective study of 30 children treated with a regimen of busulfan, fludarabine, and melphalan. ( 25504334 )
2015
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Variations for Juvenile Myelomonocytic Leukemia

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UniProtKB/Swiss-Prot genetic disease variations for Juvenile Myelomonocytic Leukemia:

75 (show all 18)
# Symbol AA change Variation ID SNP ID
1 ARHGAP26 p.Asn417Ser VAR_013623 rs121918546
2 KRAS p.Gly12Asp VAR_016026 rs121913529
3 KRAS p.Gly12Ser VAR_016028 rs121913530
4 KRAS p.Gly13Asp VAR_016029 rs112445441
5 NRAS p.Gly13Asp VAR_063084 rs121434596
6 NRAS p.Gly12Asp VAR_071129 rs121913237
7 PTPN11 p.Asp61Val VAR_015991 rs121918461
8 PTPN11 p.Asp61Tyr VAR_015992 rs397507510
9 PTPN11 p.Glu69Lys VAR_015993 rs397507511
10 PTPN11 p.Ala72Thr VAR_015996 rs121918453
11 PTPN11 p.Ala72Val VAR_015997 rs121918454
12 PTPN11 p.Glu76Ala VAR_015998 rs121918465
13 PTPN11 p.Glu76Gly VAR_015999 rs121918465
14 PTPN11 p.Glu76Lys VAR_016000 rs121918464
15 PTPN11 p.Glu76Val VAR_016001 rs121918465
16 PTPN11 p.Gly507Ala VAR_016002 rs397507546
17 PTPN11 p.Gly507Arg VAR_016003 rs397507545
18 SETBP1 p.Asp868Asn VAR_063807 rs267607042

ClinVar genetic disease variations for Juvenile Myelomonocytic Leukemia:

6
(show top 50) (show all 63)
# Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NM_000267.3(NF1): c.4614G> A (p.Trp1538Ter) single nucleotide variant Pathogenic rs137854555 GRCh37 Chromosome 17, 29588828: 29588828
2 NF1 NM_000267.3(NF1): c.4614G> A (p.Trp1538Ter) single nucleotide variant Pathogenic rs137854555 GRCh38 Chromosome 17, 31261810: 31261810
3 NF1 NF1, IVS34, G-A, +18 single nucleotide variant Pathogenic
4 NF1 NM_000267.3(NF1): c.1642-8A> G single nucleotide variant Pathogenic rs267606602 GRCh37 Chromosome 17, 29548860: 29548860
5 NF1 NM_000267.3(NF1): c.1642-8A> G single nucleotide variant Pathogenic rs267606602 GRCh38 Chromosome 17, 31221842: 31221842
6 ARHGAP26 NM_015071.5(ARHGAP26): c.1250A> G (p.Asn417Ser) single nucleotide variant Pathogenic rs121918546 GRCh37 Chromosome 5, 142421420: 142421420
7 ARHGAP26 NM_015071.5(ARHGAP26): c.1250A> G (p.Asn417Ser) single nucleotide variant Pathogenic rs121918546 GRCh38 Chromosome 5, 143041855: 143041855
8 ARHGAP26 ARHGAP26, 52-BP INS insertion Pathogenic
9 ARHGAP26 ARHGAP26, 74-BP INS insertion Pathogenic
10 KRAS NM_033360.3(KRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs112445441 GRCh37 Chromosome 12, 25398281: 25398281
11 KRAS NM_033360.3(KRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs112445441 GRCh38 Chromosome 12, 25245347: 25245347
12 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
13 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 GRCh38 Chromosome 12, 25245350: 25245350
14 KRAS NM_004985.4(KRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
15 KRAS NM_004985.4(KRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913529 GRCh38 Chromosome 12, 25245350: 25245350
16 KRAS NM_033360.3(KRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs121913530 GRCh37 Chromosome 12, 25398285: 25398285
17 KRAS NM_033360.3(KRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs121913530 GRCh38 Chromosome 12, 25245351: 25245351
18 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh37 Chromosome 12, 112888199: 112888199
19 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh38 Chromosome 12, 112450395: 112450395
20 PTPN11 NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp) single nucleotide variant Pathogenic rs28933386 GRCh37 Chromosome 12, 112915523: 112915523
21 PTPN11 NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp) single nucleotide variant Pathogenic rs28933386 GRCh38 Chromosome 12, 112477719: 112477719
22 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh37 Chromosome 12, 112915524: 112915524
23 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh38 Chromosome 12, 112477720: 112477720
24 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh37 Chromosome 12, 112926270: 112926270
25 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh38 Chromosome 12, 112488466: 112488466
26 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic