NBLST1
MCID: NRB001
MIFTS: 73

Neuroblastoma (NBLST1)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuroblastoma

MalaCards integrated aliases for Neuroblastoma:

Name: Neuroblastoma 57 12 76 53 25 59 37 29 13 6 43 44 15 40 73
Neuroblastoma 1 57 75 29 6
Nb 53 25
Neuroblastoma, Susceptibility to, Type 1 40
Neuroblastoma, Susceptibility to, 1 57
Neuroblastoma, Susceptibility to 57
Central Neuroblastoma 73
Nblst1 75

Characteristics:

Orphanet epidemiological data:

59
neuroblastoma
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: adolescent,late childhood;

OMIM:

57
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
genetic heterogeneity
incomplete penetrance
mean age of onset 14-24 months
highly variable clinical phenotype
symptoms vary according to location of tumor
spontaneous tumor regression may occur
usually sporadic, but 1-2% of cases are familial
n-myc oncogene amplification is associated with poor prognosis


HPO:

32
neuroblastoma:
Onset and clinical course incomplete penetrance
Inheritance heterogeneous autosomal dominant inheritance sporadic


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Neuroblastoma

NIH Rare Diseases : 53 Neuroblastoma is a tumor that develops from neuroblasts (immature nerve tissue) in an infant or child, usually before the age of 5. It most often develops in infancy and may be diagnosed in the first month of life. The tumor most often develops in the adrenal gland, but may develop in the neck, chest, or spinal cord. It is considered an aggressive tumor because it often spreads to other parts of the body (metastasizes). In most cases, it has spread by the time it is diagnosed. A neuroblastoma can cause a variety of signs and symptoms, including a lump where the tumor is growing, bone pain, diarrhea, and various neurological symptoms. The cause of most neuroblastomas is not known. Rarely, a neuroblastoma is caused by an inheritedmutation in a gene, such as the ALK gene or PHOX2B gene. Diagnosing a neuroblastoma may rely on a physical examination, blood tests, imaging tests (such as MRI or CT scan) and ultimately, a biopsy. Treatment depends on the size and location of the tumor within the body, as well as the child�??s age. Surgery is often the first step of treatment, and may be followed by chemotherapy, radiation therapy, or a stem cell transplant in more severe cases. In some children the tumor goes away without treatment. While the long-term outlook and chance of survival depends on many factors, the 5-year survival rate ranges from 40-50% in some, to over 95% in others. The child's doctor is in the best position to provide personalized information about the outlook in each case.

MalaCards based summary : Neuroblastoma, also known as neuroblastoma 1, is related to medulloblastoma and glioma, and has symptoms including seizures, tremor and back pain. An important gene associated with Neuroblastoma is ALK (ALK Receptor Tyrosine Kinase), and among its related pathways/superpathways is Transcriptional misregulation in cancer. The drugs Abstral and Adcetris have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, bone and t cells, and related phenotypes are neoplasm of the nervous system and elevated urinary catecholamines

Disease Ontology : 12 An autonomic nervous system neoplasm that derives from immature nerve cells.

Genetics Home Reference : 25 Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites for tumors to form include the nerve tissue in the abdomen, chest, neck, or pelvis. Neuroblastoma can spread (metastasize) to other parts of the body such as the bones, liver, or skin.

OMIM : 57 Neuroblastoma is the most common childhood cancer diagnosed before the age of 1 year, and accounts for 10 to 15% of all cancer deaths in children. Some patients inherit a genetic predisposition to neuroblastoma due to germline mutations, whereas others develop sporadic disease that may result from either germline or somatic mutations. Neuroblastoma tumors are derived from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system (Roberts et al., 1998; Eng, 2008). Histopathologically, neuroblastoma can range in type from the most aggressive form, neuroblastoma, composed entirely of immature neural precursor cells, to ganglioneuroma, composed entirely of mature neural tissue. The most important prognostic factor for patients with neuroblastoma is the extent of the tumor at the time of diagnosis (Roberts et al., 1998). Neuroblastoma can also be part of cancer-prone syndromes, such as paragangliomas (see, e.g., PGL4; 115310). (256700)

MedlinePlus : 43 Neuroblastoma is a cancer that forms in your nerve tissue. It usually begins in the adrenal glands, which sit atop your kidneys. It may also begin in your neck, chest or spinal cord. The cancer often begins in early childhood. Sometimes it begins before a child is born. By the time doctors find the cancer, it has usually spread to other parts of the body. The most common symptoms are A lump in the abdomen, neck or chest Bulging eyes Dark circles around the eyes Bone pain Swollen stomach and trouble breathing in babies Painless, bluish lumps under the skin in babies Inability to move a body part Treatments include surgery, radiation therapy, chemotherapy, biologic therapy, or a combination. Biologic therapy boosts your body's own ability to fight cancer. Sometimes before giving treatment, doctors wait to see whether symptoms get worse. This is called watchful waiting. NIH: National Cancer Institute

UniProtKB/Swiss-Prot : 75 Neuroblastoma 1: A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system.

Wikipedia : 76 Neuroblastoma (NB) is a type of cancer that forms in certain types of nerve tissue. It most frequently... more...

Related Diseases for Neuroblastoma

Diseases in the Neuroblastoma family:

Neuroblastoma 2 Neuroblastoma 3
Neuroblastoma 4 Neuroblastoma 5
Neuroblastoma 6 Neuroblastoma 7

Diseases related to Neuroblastoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 497)
# Related Disease Score Top Affiliating Genes
1 medulloblastoma 32.6 FGFR1 H19 MIR34A MYCNOS TP53
2 glioma 31.1 FGFR1 GAS5 H19 HAGLR MIR184 MIR34A
3 rhabdomyosarcoma 30.9 ALK H19 PTPN11 TP53
4 glioblastoma 30.7 ALK FGFR1 GAS5 H19 MIR34A TP53
5 astrocytoma 30.7 FGFR1 H19 LINC00467 PTPN11 SNHG1
6 melanoma 30.6 CASC15 GAS5 H19 MIR184 MIR34A TP53
7 lung cancer 30.4 ALK FGFR1 GAS5 H19 HAGLR MIR34A
8 adenocarcinoma 30.3 ALK FGFR1 H19 TP53
9 breast cancer 30.3 ALK FGFR1 GAS5 H19 MIR34A NBAT1
10 adrenocortical carcinoma, hereditary 30.0 H19 MIR184 TP53
11 ovarian cancer 29.9 GAS5 H19 HAGLR MIR184 NBAT1 NME1
12 myeloma, multiple 29.8 GAS5 H19 PTPN11 TP53
13 osteogenic sarcoma 29.7 GAS5 H19 SNHG1 TP53
14 bladder cancer 29.7 GAS5 H19 HAGLR SNHG16 TP53
15 thyroid cancer, nonmedullary, 1 29.7 GAS5 H19 HAGLR MIR34A
16 prostate cancer 29.5 FGFR1 GAS5 H19 MIR184 MIR34A SNHG1
17 olfactory neuroblastoma 12.5
18 neuroblastoma 2 12.4
19 neuroblastoma 3 12.4
20 cervical neuroblastoma 12.3
21 cerebral neuroblastoma 12.3
22 nijmegen breakage syndrome 12.2
23 adrenal neuroblastoma 12.2
24 differentiating neuroblastoma 12.2
25 extracranial neuroblastoma 12.2
26 spinal cord neuroblastoma 12.2
27 retroperitoneal neuroblastoma 12.1
28 renal cell carcinoma associated with neuroblastoma 12.1
29 neuroblastoma 4 12.0
30 neuroblastoma 5 12.0
31 neuroblastoma 6 12.0
32 nasal cavity olfactory neuroblastoma 12.0
33 neuroblastoma 7 12.0
34 mediastinum neuroblastoma 12.0
35 retinoblastoma 11.8
36 opsoclonus-myoclonus syndrome 11.5
37 central hypoventilation syndrome, congenital 11.5
38 ganglioneuroblastoma 11.4
39 wilms tumor 1 11.3
40 weaver syndrome 11.3
41 myoclonic encephalopathy of infants 11.3
42 nicolaides-baraitser syndrome 11.3
43 nijmegen breakage syndrome-like disorder 11.3
44 cohen syndrome 11.3
45 adrenal carcinoma 11.2
46 askin's tumor 11.0
47 simpson-golabi-behmel syndrome 11.0
48 hirschsprung disease ganglioneuroblastoma 11.0
49 hematologic cancer 10.5 ALK FGFR1 PTPN11 TP53
50 parameningeal embryonal rhabdomyosarcoma 10.5 ALK TP53

Graphical network of the top 20 diseases related to Neuroblastoma:



Diseases related to Neuroblastoma

Symptoms & Phenotypes for Neuroblastoma

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
myoclonus
opsoclonus
spinal cord compression
paraneoplastic syndromes

Metabolic Features:
fever

Neoplasia:
ganglioneuroma
ganglioneuroblastoma
neuroblastoma, arises anywhere along the sympathetic chain (including intracranially)
adrenal glands are most common site

Head And Neck Eyes:
horner's syndrome
periorbital ecchymoses (soft tissue involvement)

Chest:
mediastinal mass with calcifications on radiology

Skeletal:
bone pain (with metastatic disease)

Hematology:
anemia (with bone marrow involvement)

Growth Other:
failure to thrive

Abdomen:
abdominal pain
palpable abdominal mass
abdominal mass with calcifications on radiology

Growth Weight:
weight loss (with disseminated disease)

Cardiovascular Vascular:
hypertension (compression of renal arteries)

Abdomen Gastrointestinal:
diarrhea (due to vasoactive intestinal peptide)

Skin Nails Hair Skin:
bluish skin nodules

Laboratory Abnormalities:
increased urinary catecholamines
increased urinary homovanillic acid (hva)
increased urinary vanillylmandelic acid (vma)
increased urinary dopamine
tumor may secrete vasoactive intestinal peptide (vip)


Clinical features from OMIM:

256700

Human phenotypes related to Neuroblastoma:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neoplasm of the nervous system 59 32 hallmark (90%) Very frequent (99-80%) HP:0004375
2 elevated urinary catecholamines 59 32 hallmark (90%) Very frequent (99-80%) HP:0011976
3 hypertension 32 HP:0000822
4 ataxia 32 HP:0001251
5 failure to thrive 32 HP:0001508
6 fever 32 HP:0001945
7 anemia 32 HP:0001903
8 abdominal pain 32 HP:0002027
9 weight loss 32 HP:0001824
10 abnormality of the thorax 32 HP:0000765
11 myoclonus 32 HP:0001336
12 diarrhea 32 HP:0002014
13 bone pain 32 HP:0002653
14 neuroblastoma 32 HP:0003006
15 skin nodule 32 HP:0200036
16 ganglioneuroma 32 HP:0003005
17 horner syndrome 32 HP:0002277
18 ganglioneuroblastoma 32 HP:0006747
19 opsoclonus 32 HP:0010543
20 spinal cord compression 32 HP:0002176
21 elevated urinary dopamine 32 HP:0011979
22 elevated urinary homovanillic acid 32 HP:0011977
23 elevated urinary vanillylmandelic acid 32 HP:0011978
24 abdominal mass 32 HP:0031500

UMLS symptoms related to Neuroblastoma:


seizures, tremor, back pain, pain, headache, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness

Drugs & Therapeutics for Neuroblastoma

FDA approved drugs:

(show all 20)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Abstral 18 FENTANYL (citrate) ProStrakan January 2011
2
Adcetris 18 49 BRENTUXIMAB VEDOTIN Seattle Genetics August 2011
3
Afinitor 18 49 EVEROLIMUS Novartis March 2009
4
Arzerra 18 49 OFATUMUMAB GlaxoSmithKline October 2009
5
Bexxar 18 49 TOSITUMOMAB; IODINE I 131 TOSITUMOMAB Corixa June 2003
6
Degarelix 18 49 degarelix Ferring Pharmaceuticals December of 2008
7
Istodax 18 49 ROMIDEPSIN Gloucester Pharmaceuticals November 2009
8
Ixempra 18 49 IXABEPILONE Bristol-Myers Squibb October 2007
9
Nolvadex 18 49 TAMOXIFEN CITRATE AstraZeneca October 1998
10
Plenaxis 18 ABARELIX Praecis Pharmaceuticals December 2003
11
Stivarga 18 49 REGORAFENIB Bayer/ Bayer HealthCare Pharmaceuticals February 2013/ September 2012
12
Sutent 18 49 SUNITINIB MALATE Pfizer May 2011/ January 2006
13
Unituxin 18 49 DINUTUXIMAB United Therapeutics March 2015
14
Vectibix 18 49 PANITUMUMAB Amgen September 2006
15
Votrient 18 49 PAZOPANIB HYDROCHLORIDE GlaxoSmithKline April 2012/ October of 2009
16
Xtandi 18 49 ENZALUTAMIDE Medivation August 2012
17
Daliresp 18 ROFLUMILAST Forest Pharmaceuticals February 2011
18
Ketek 18 TELITHROMYCIN Sanofi-aventis April 2004
19
Tyvaso 18 TREPROSTINIL United Therapeutics July 2009
20
Xyzal 18 LEVOCETIRIZINE DIHYDROCHLORIDE UCB May 2007

Drugs for Neuroblastoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 419)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 22916-47-8 4189
2
Lenograstim Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
3
Itraconazole Approved, Investigational Phase 4,Phase 3,Not Applicable 84625-61-6 55283
4
Nicotine Approved Phase 4 54-11-5 942 89594
5 Cytochrome P-450 CYP3A Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
7 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
8 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
9 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
11 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
13 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 Antibodies Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Antibodies, Monoclonal Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Adjuvants, Immunologic Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Steroid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18
Hydroxyitraconazole Phase 4,Phase 3,Not Applicable
19 Pharmaceutical Solutions Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
20
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 57-22-7, 2068-78-2 5978
21
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 6055-19-2, 50-18-0 2907
22
Carboplatin Approved Phase 3,Phase 2,Phase 1,Not Applicable 41575-94-4 10339178 38904 498142
23
Cisplatin Approved Phase 3,Phase 2,Phase 1,Not Applicable 15663-27-1 2767 441203 84093
24
Etoposide Approved Phase 3,Phase 2,Phase 1,Not Applicable 33419-42-0 36462
25
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 55-98-1 2478
26
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 23214-92-8 31703
27
Melphalan Approved Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 148-82-3 4053 460612
28
Isotretinoin Approved Phase 3,Phase 1,Phase 2,Not Applicable 4759-48-2 5538 5282379
29
Vindesine Approved, Investigational Phase 3,Phase 2,Not Applicable 59917-39-4, 53643-48-4 40839
30
Topotecan Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 123948-87-8, 119413-54-6 60700
31
Dacarbazine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 4342-03-4 5351166
32
Ifosfamide Approved Phase 3,Phase 2,Phase 1,Not Applicable 3778-73-2 3690
33
Aldesleukin Approved Phase 3,Phase 2,Phase 1 85898-30-2, 110942-02-4
34
Thiotepa Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 52-24-4 5453
35
rituximab Approved Phase 3,Phase 2,Phase 1,Early Phase 1 174722-31-7 10201696
36
Mechlorethamine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 51-75-2 4033
37
Cobalt Approved, Experimental Phase 3,Phase 2,Phase 1 7440-48-4 104729
38
Mesna Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 3375-50-6 598
39
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
40
Captopril Approved Phase 3 62571-86-2 44093
41
Ribavirin Approved Phase 3 36791-04-5 37542
42
Palivizumab Approved, Investigational Phase 3 188039-54-5
43
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
44
Caspofungin Approved Phase 3,Phase 2,Not Applicable 179463-17-3, 162808-62-0 468682 2826718
45
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
46
Acyclovir Approved Phase 3 59277-89-3 2022
47
Iodine Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 7553-56-2 807
48
Crizotinib Approved Phase 3,Phase 1,Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
49
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 50-02-2 5743
50
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 1177-87-3

Interventional clinical trials:

(show top 50) (show all 571)
# Name Status NCT ID Phase Drugs
1 Efficacy of Prophylactic Itraconazole in High-Dose Chemotherapy and Autologous Hematopoietic Stem Cell Transplantation Completed NCT00336531 Phase 4 itraconazole
2 Phase IV Panitumumab Study in Indian Subjects With Metastatic Colorectal Cancer Recruiting NCT02301962 Phase 4 Panitumumab
3 G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor Recruiting NCT02933333 Phase 4
4 Docetaxel Combined With Carboplatin Plus Anlotinib as First Line Treatment in NSCLC Not yet recruiting NCT03799601 Phase 4 Anlotinib;Docetaxel;Carboplatin
5 Combination Chemotherapy Followed By Surgery With or Without Radiation Therapy in Treating Young Patients With Stage II or Stage III Neuroblastoma Unknown status NCT00276731 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;vincristine sulfate
6 Combination Chemotherapy and Surgery With or Without Radiation Therapy in Treating Patients With Stage 2 or Stage 3 Neuroblastoma Unknown status NCT00416676 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;vincristine sulfate
7 Combination Chemotherapy in Treating Infants With Newly Diagnosed Neuroblastoma Who Are Undergoing Surgery With or Without Autologous Bone Marrow or Peripheral Stem Cell Transplant Unknown status NCT00417053 Phase 3 busulfan;carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide phosphate;melphalan;vincristine sulfate
8 Combination Chemotherapy With or Without Filgrastim Before Surgery, High-Dose Chemotherapy, and Radiation Therapy Followed by Isotretinoin With or Without Monoclonal Antibody in Treating Patients With Neuroblastoma Unknown status NCT00030719 Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;isotretinoin;melphalan;vincristine sulfate
9 Observation, Combination Chemotherapy, Radiation Therapy, and/or Autologous Stem Cell Transplant in Treating Young Patients With Neuroblastoma Unknown status NCT00410631 Phase 3 carboplatin;cisplatin;cyclophosphamide;dacarbazine;doxorubicin hydrochloride;etoposide phosphate;ifosfamide;isotretinoin;melphalan;topotecan hydrochloride;vincristine sulfate;vindesine
10 123I-MIBG Scintigraphy in Patients Being Evaluated for Neuroendocrine Tumors Unknown status NCT01373736 Phase 3 123I-meta-iodobenzylguanidine
11 Combination Chemotherapy Followed by Stem Cell Transplant in High-risk Neuroblastoma Patients Completed NCT03042429 Phase 3 Cycles N8, N5 and N6;Cycles N5 and N6
12 Combination Chemotherapy and Surgery With or Without Isotretinoin in Treating Young Patients With Neuroblastoma Completed NCT00499616 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;topotecan hydrochloride;Isotretinoin;Filgrastim
13 Combination Chemotherapy in Treating Young Patients Who Are Undergoing Surgery and an Autologous Bone Marrow Transplant for Disseminated Neuroblastoma Completed NCT00365755 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;melphalan;vincristine sulfate
14 Surgery in Treating Children With Neuroblastoma Completed NCT00003119 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide
15 Combination Chemotherapy Before Surgery in Treating Children With Localized Neuroblastoma Completed NCT00025428 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
16 Combination Chemotherapy in Treating Children With Neuroblastoma Completed NCT00003093 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide
17 Therapy Based on Stage of Disease and Risk Assessment in Treating Children With Neuroblastoma Completed NCT00002802 Phase 3 carboplatin;cisplatin;cyclophosphamide;dacarbazine;doxorubicin hydrochloride;etoposide;ifosfamide;melphalan;mesna;vincristine sulfate;vindesine
18 Combination Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Neuroblastoma Completed NCT00004188 Phase 3 carboplatin;cisplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;isotretinoin;melphalan;topotecan hydrochloride;vincristine sulfate
19 Meta-Iodobenzylguanidine (123I mIBG) Scintigraphy in Patients Being Evaluated for Phaeochromocytoma or Neuroblastoma Completed NCT00126412 Phase 3 123I-mIBG (meta-iodobenzylguanidine)
20 Cyclophosphamide and Prednisone With or Without Immunoglobulin in Treating Abnormal Muscle Movement in Children With Neuroblastoma Completed NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
21 Monoclonal Antibody Ch14.18, Sargramostim, Aldesleukin, and Isotretinoin After Autologous Stem Cell Transplant in Treating Patients With Neuroblastoma Completed NCT01041638 Phase 3 Isotretinoin
22 Isotretinoin With or Without Dinutuximab, Aldesleukin, and Sargramostim Following Stem Cell Transplant in Treating Patients With Neuroblastoma Completed NCT00026312 Phase 3 Isotretinoin
23 Comparing Two Different Myeloablation Therapies in Treating Young Patients Who Are Undergoing a Stem Cell Transplant for High-Risk Neuroblastoma Completed NCT00567567 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Doxorubicin Hydrochloride;Etoposide;Isotretinoin;Melphalan;Thiotepa;Topotecan Hydrochloride;Vincristine Sulfate Liposome
24 Sodium Thiosulfate in Preventing Hearing Loss in Young Patients Receiving Cisplatin for Newly Diagnosed Germ Cell Tumor, Hepatoblastoma, Medulloblastoma, Neuroblastoma, Osteosarcoma, or Other Malignancy Completed NCT00716976 Phase 3 sodium thiosulfate
25 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
26 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
27 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
28 Music Therapy or Book Discussion in Improving Quality of Life in Young Patients Undergoing Stem Cell Transplant Completed NCT00305851 Phase 3
29 Captopril in Treating Patients Undergoing Bone Marrow or Stem Cell Transplantation Completed NCT00004230 Phase 3 captopril;cyclophosphamide
30 Ribavirin With or Without Monoclonal Antibody Therapy in Treating Patients Who Develop RSV Pneumonia Following Peripheral Stem Cell Transplantation Completed NCT00014391 Phase 3 ribavirin
31 Itraconazole Compared With Fluconazole to Prevent Infections in Patients Undergoing Peripheral Stem Cell or Bone Marrow Transplantation Completed NCT00003883 Phase 3 fluconazole;itraconazole
32 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
33 Valacyclovir in Preventing Cytomegalovirus Infection in Patients Who Are Undergoing Donor Stem Cell Transplantation Completed NCT00045292 Phase 3 acyclovir;acyclovir sodium;valacyclovir
34 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3 liposomal amphotericin B
35 Comparison of Survival Benefit of Panitumumab With Supportive Care to Best Supportive Care Alone in Patients With Metastatic Colorectal Cancer Completed NCT01412957 Phase 3 Panitumumab
36 European Low and Intermediate Risk Neuroblastoma Protocol Recruiting NCT01728155 Phase 3 chemotherapy
37 High Risk Neuroblastoma Study 1.8 of SIOP-Europe (SIOPEN) Recruiting NCT01704716 Phase 3 Vincristine;Aldesleukin;ch14.18/CHO;Carboplatin;Etoposide;Cisplatin;Cyclophosphamide;Doxorubicin;G-CSF;Busulfan;Melphalan
38 131I-omburtamab Radioimmunotherapy for Neuroblastoma Central Nervous System/Leptomeningeal Metastases Recruiting NCT03275402 Phase 2, Phase 3
39 Response and Biology-Based Risk Factor-Guided Therapy in Treating Younger Patients With Non-high Risk Neuroblastoma Recruiting NCT02176967 Phase 3 Carboplatin;Cyclophosphamide;Doxorubicin Hydrochloride;Etoposide
40 Iobenguane I-131 or Crizotinib and Standard Therapy in Treating Younger Patients With Newly-Diagnosed High-Risk Neuroblastoma or Ganglioneuroblastoma Recruiting NCT03126916 Phase 3 Busulfan;Carboplatin;Cisplatin;Crizotinib;Cyclophosphamide;Dexrazoxane Hydrochloride;Doxorubicin Hydrochloride;Etoposide Phosphate;Isotretinoin;Melphalan;Thiotepa;Topotecan Hydrochloride;Vincristine Sulfate
41 Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg)Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg) Recruiting NCT01868269 Phase 3 Dexamethasone acetate;dexamethasone and cyclophosphamide;dexamethasone and rituximab
42 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Recruiting NCT03042416 Phase 3 18F-DOPA
43 Combination Chemotherapy, Autologous Stem Cell Transplant, and/or Radiation Therapy in Treating Young Patients With Extraocular Retinoblastoma Active, not recruiting NCT00554788 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Etoposide;Thiotepa;Vincristine Sulfate
44 Study of Fixed vs. Flexible Filgrastim to Accelerate Bone Marrow Recovery After Chemotherapy in Children With Cancer Active, not recruiting NCT01987596 Phase 3
45 Autologous Stem Cell Rescue With CD133+ Selected Cells in High-Risk Neuroblastoma Terminated NCT00539500 Phase 2, Phase 3 Carboplatin;Etoposide;Melphalan
46 Moxifloxacin in Preventing Bacterial Infections in Patients Who Have Undergone Donor Stem Cell Transplant Terminated NCT00324324 Phase 3 moxifloxacin hydrochloride;Placebo
47 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
48 Mycophenolate Mofetil (MMF) for Treatment of Chronic Graft-versus-host Disease (GVHD) Terminated NCT00089141 Phase 3 mycophenolate mofetil;placebo
49 Haplo-identical Hematopoietic Stem Cell Transplantation Following Reduced-intensity Conditioning in Children With Neuroblastoma Unknown status NCT01156350 Phase 2 Busulfan - Fludarabine - TBI
50 Anti-angiogenetic Therapy With Radiotherapy for Pediatric Neuroblastoma Unknown status NCT02615106 Phase 2 Endostar

Search NIH Clinical Center for Neuroblastoma

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: neuroblastoma

Genetic Tests for Neuroblastoma

Genetic tests related to Neuroblastoma:

# Genetic test Affiliating Genes
1 Neuroblastoma 29 KIF1B NME1
2 Neuroblastoma 1 29

Anatomical Context for Neuroblastoma

MalaCards organs/tissues related to Neuroblastoma:

41
Adrenal Gland, Bone, T Cells, Bone Marrow, Skin, Brain, Testes

Publications for Neuroblastoma

Articles related to Neuroblastoma:

(show top 50) (show all 5879)
# Title Authors Year
1
Mitophagy protects SH-SY5Y neuroblastoma cells against the TNFα-induced inflammatory injury: Involvement of microRNA-145 and Bnip3. ( 30551550 )
2019
2
Dendritic cell factor 1 inhibits proliferation and migration and induces apoptosis of neuroblastoma cells by inhibiting the ERK signaling pathway. ( 30365123 )
2019
3
Knockdown of galectin-1 facilitated cisplatin sensitivity by inhibiting autophagy in neuroblastoma cells. ( 30365942 )
2019
4
X-ray irradiation effects on nuclear and membrane regions of single SH-SY5Y human neuroblastoma cells investigated by Raman micro-spectroscopy. ( 30466024 )
2019
5
Pyrazinium thioacetate capped gold nanoparticles as Fe(III) sensor and Fe(III) marked anti-proliferating agent in human neuroblastoma cells. ( 30096697 )
2019
6
Late effects in high-risk neuroblastoma survivors treated with high-dose chemotherapy and stem cell rescue. ( 30151986 )
2019
7
A Comprehensive Safety Trial of Chimeric Antibody 14.18 With GM-CSF, IL-2, and Isotretinoin in High-Risk Neuroblastoma Patients Following Myeloablative Therapy: Children's Oncology Group Study ANBL0931. ( 29967609 )
2018
8
Origin and initiation mechanisms of neuroblastoma. ( 29445860 )
2018
9
T-2 toxin-induced toxicity in neuroblastoma-2a cells involves the generation of reactive oxygen, mitochondrial dysfunction and inhibition of Nrf2/HO-1 pathway. ( 29432840 )
2018
10
Neuroprotective effects of seaweeds against 6-hydroxidopamine-induced cell death on an in vitro human neuroblastoma model. ( 29444677 )
2018
11
TERT-mediated and ATRX-mediated Telomere Maintenance and Neuroblastoma. ( 28452859 )
2018
12
DNA methylation-based reclassification of olfactory neuroblastoma. ( 29730775 )
2018
13
P53/PUMA are potential targets that mediate the protection of brain-derived neurotrophic factor (BDNF)/TrkB from etoposide-induced cell death in neuroblastoma (NB). ( 29959561 )
2018
14
Real-time determination of aggregated alpha-synuclein induced membrane disruption at neuroblastoma cells using scanning ion conductance microscopy. ( 29974096 )
2018
15
Thalidomide potentiates etoposide-induced apoptosis in murine neuroblastoma through suppression of NF-I_B activation. ( 29423589 )
2018
16
Quantification of total dinutuximab concentrations in neuroblastoma patients with liquid chromatography tandem mass spectrometry. ( 29938370 )
2018
17
Effects of Cordyceps sinensis on macrophage function in high-fat diet fed rats and its anti-proliferative effects on IMR-32 human neuroblastoma cells. ( 29348077 )
2018
18
Harmine, a dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) inhibitor induces caspase-mediated apoptosis in neuroblastoma. ( 29977157 )
2018
19
Surgical Treatment of Olfactory Neuroblastoma: Major Complication Rates, Progression Free and Overall Survival. ( 29868319 )
2018
20
Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1. ( 29929043 )
2018
21
Vandetanib inhibits cisplatina89resistant neuroblastoma tumor growth and invasion. ( 29436676 )
2018
22
Olfactory Neuroblastoma. ( 29411144 )
2018
23
Activation of transglutaminase 2 by nerve growth factor in differentiating neuroblastoma cells: A role in cell survival and neurite outgrowth. ( 29242118 )
2018
24
microRNA-494 Favors HO-1 Expression in Neuroblastoma Cells Exposed to Oxidative Stress in a Bach1-Independent Way. ( 29951371 )
2018
25
The HDAC6/8/10 inhibitor TH34 induces DNA damage-mediated cell death in human high-grade neuroblastoma cell lines. ( 29947893 )
2018
26
Yap-Hippo pathway regulates cerebral hypoxia-reoxygenation injury in neuroblastoma N2a cells via inhibiting ROCK1/F-actin/mitochondrial fission pathways. ( 29796942 )
2018
27
Guidelines on nuclear medicine imaging in neuroblastoma. ( 29938300 )
2018
28
ZNF281 inhibits neuronal differentiation and is a prognostic marker for neuroblastoma. ( 29941555 )
2018
29
Scavenger receptor class B type 1 regulates neuroblastoma cell proliferation, migration and invasion. ( 29128352 )
2018
30
S-trityl-L-cysteine, a novel Eg5 inhibitor, is a potent chemotherapeutic strategy in neuroblastoma. ( 29963178 )
2018
31
Sinonasal Neuroendocrine Neoplasms: Current Challenges and Advances in Diagnosis and Treatment, with a Focus on Olfactory Neuroblastoma. ( 29427030 )
2018
32
Silencing of NADPH oxidase 4 attenuates hypoxia resistance in neuroblastoma cells SHSY-5Y by inhibiting PI3K/Akt-dependent glycolysis. ( 29426376 )
2018
33
Age distribution and age-related outcomes of olfactory neuroblastoma: a population-based analysis. ( 29881306 )
2018
34
Dual role of HDAC10 in lysosomal exocytosis and DNA repair promotes neuroblastoma chemoresistance. ( 29968769 )
2018
35
MYCN drives glutaminolysis in neuroblastoma and confers sensitivity to an ROS augmenting agent. ( 29445162 )
2018
36
Burkholderia Lethal Factor 1, a Novel Anti-Cancer Toxin, Demonstrates Selective Cytotoxicity in MYCN-Amplified Neuroblastoma Cells. ( 29954071 )
2018
37
Survival outcome of intermediate risk neuroblastoma at Children Cancer Hospital Egypt. ( 29428371 )
2018
38
Triptolide inhibits proliferation and migration of human neuroblastoma SH-SY5Y cells by up-regulating microRNA-181a. ( 29426375 )
2018
39
Ectopic Cushing's syndrome secondary to olfactory neuroblastoma. ( 29340776 )
2018
40
Radiation Therapy to Sites of Metastatic Disease as Part of Consolidation in High-Risk Neuroblastoma: Can Long-term Control Be Achieved? ( 29439882 )
2018
41
A physiologically relevant 3D collagen-based scaffold - neuroblastoma cell system exhibits chemosensitivity similar to orthotopic xenograft models. ( 29447961 )
2018
42
Rare MYC-amplified Neuroblastoma With Large Cell Histology. ( 29426276 )
2018
43
PHF20 collaborates with PARP1 to promote stemness and aggressiveness of neuroblastoma cells through activation of SOX2 and OCT4. ( 29452418 )
2018
44
PIM kinases are a potential prognostic biomarker and therapeutic target in neuroblastoma. ( 29440296 )
2018
45
Neuroprotective Effects of Phenolic and Carboxylic Acids on Oxidative Stress-Induced Toxicity in Human Neuroblastoma SH-SY5Y Cells. ( 29417471 )
2018
46
A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation? ( 28766837 )
2018
47
Induction of cross-tolerance between protective effect of morphine and nicotine in 6-hydroxydopamine-induce neurotoxicity in SH-SY5Y human dopaminergic neuroblastoma cells. ( 29947270 )
2018
48
Paraneoplastic limbic encephalitis associated with mixed olfactory neuroblastoma and craniopharyngioma: A case report and literature review. ( 29901583 )
2018
49
In situ monitoring of PTHLH secretion in neuroblastoma cells cultured onto nanoporous membranes. ( 29438908 )
2018
50
Nano-targeted induction of dual ferroptotic mechanisms eradicates high-risk neuroblastoma. ( 29939160 )
2018

Variations for Neuroblastoma

ClinVar genetic disease variations for Neuroblastoma:

6 (show top 50) (show all 503)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF1B NM_015074.3(KIF1B): c.1937A> T (p.Glu646Val) single nucleotide variant risk factor rs121908161 GRCh37 Chromosome 1, 10357264: 10357264
2 KIF1B NM_015074.3(KIF1B): c.1937A> T (p.Glu646Val) single nucleotide variant risk factor rs121908161 GRCh38 Chromosome 1, 10297206: 10297206
3 KIF1B NM_015074.3(KIF1B): c.2480C> T (p.Thr827Ile) single nucleotide variant Likely benign rs121908162 GRCh37 Chromosome 1, 10384896: 10384896
4 KIF1B NM_015074.3(KIF1B): c.2480C> T (p.Thr827Ile) single nucleotide variant Likely benign rs121908162 GRCh38 Chromosome 1, 10324838: 10324838
5 KIF1B NM_015074.3(KIF1B): c.3649C> T (p.Pro1217Ser) single nucleotide variant Likely pathogenic rs121908163 GRCh37 Chromosome 1, 10406001: 10406001
6 KIF1B NM_015074.3(KIF1B): c.3649C> T (p.Pro1217Ser) single nucleotide variant Likely pathogenic rs121908163 GRCh38 Chromosome 1, 10345943: 10345943
7 KIF1B NM_015074.3(KIF1B): c.4442G> A (p.Ser1481Asn) single nucleotide variant Pathogenic,risk factor rs121908164 GRCh37 Chromosome 1, 10425534: 10425534
8 KIF1B NM_015074.3(KIF1B): c.4442G> A (p.Ser1481Asn) single nucleotide variant Pathogenic,risk factor rs121908164 GRCh38 Chromosome 1, 10365476: 10365476
9 PTPN11 NM_002834.4(PTPN11): c.226G> A (p.Glu76Lys) single nucleotide variant Pathogenic rs121918464 GRCh37 Chromosome 12, 112888210: 112888210
10 PTPN11 NM_002834.4(PTPN11): c.226G> A (p.Glu76Lys) single nucleotide variant Pathogenic rs121918464 GRCh38 Chromosome 12, 112450406: 112450406
11 PTPN11 NM_002834.4(PTPN11): c.227A> G (p.Glu76Gly) single nucleotide variant Pathogenic rs121918465 GRCh37 Chromosome 12, 112888211: 112888211
12 PTPN11 NM_002834.4(PTPN11): c.227A> G (p.Glu76Gly) single nucleotide variant Pathogenic rs121918465 GRCh38 Chromosome 12, 112450407: 112450407
13 PTPN11 NM_002834.4(PTPN11): c.227A> C (p.Glu76Ala) single nucleotide variant Pathogenic rs121918465 GRCh37 Chromosome 12, 112888211: 112888211
14 PTPN11 NM_002834.4(PTPN11): c.227A> C (p.Glu76Ala) single nucleotide variant Pathogenic rs121918465 GRCh38 Chromosome 12, 112450407: 112450407
15 ALK NM_004304.4(ALK): c.3824G> A (p.Arg1275Gln) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994087 GRCh37 Chromosome 2, 29432664: 29432664
16 ALK NM_004304.4(ALK): c.3824G> A (p.Arg1275Gln) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994087 GRCh38 Chromosome 2, 29209798: 29209798
17 ALK NM_004304.4(ALK): c.3383G> C (p.Gly1128Ala) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994088 GRCh37 Chromosome 2, 29445450: 29445450
18 ALK NM_004304.4(ALK): c.3383G> C (p.Gly1128Ala) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994088 GRCh38 Chromosome 2, 29222584: 29222584
19 ALK NM_004304.4(ALK): c.3575G> C (p.Arg1192Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994089 GRCh37 Chromosome 2, 29443642: 29443642
20 ALK NM_004304.4(ALK): c.3575G> C (p.Arg1192Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994089 GRCh38 Chromosome 2, 29220776: 29220776
21 ALK NM_004304.4(ALK): c.3452C> T (p.Thr1151Met) single nucleotide variant Pathogenic,risk factor rs113994091 GRCh37 Chromosome 2, 29445273: 29445273
22 ALK NM_004304.4(ALK): c.3452C> T (p.Thr1151Met) single nucleotide variant Pathogenic,risk factor rs113994091 GRCh38 Chromosome 2, 29222407: 29222407
23 ALK NM_004304.4(ALK): c.3749T> C (p.Ile1250Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994092 GRCh37 Chromosome 2, 29432739: 29432739
24 ALK NM_004304.4(ALK): c.3749T> C (p.Ile1250Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994092 GRCh38 Chromosome 2, 29209873: 29209873
25 PTPN11 NM_002834.4(PTPN11): c.215C> T (p.Ala72Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121918454 GRCh37 Chromosome 12, 112888199: 112888199
26 PTPN11 NM_002834.4(PTPN11): c.215C> T (p.Ala72Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121918454 GRCh38 Chromosome 12, 112450395: 112450395
27 ALK NM_004304.4(ALK): c.3520T> G (p.Phe1174Val) single nucleotide variant Pathogenic rs281864719 GRCh37 Chromosome 2, 29443697: 29443697
28 ALK NM_004304.4(ALK): c.3520T> G (p.Phe1174Val) single nucleotide variant Pathogenic rs281864719 GRCh38 Chromosome 2, 29220831: 29220831
29 ALK NM_004304.4(ALK): c.3733T> G (p.Phe1245Val) single nucleotide variant Pathogenic rs281864720 GRCh37 Chromosome 2, 29436860: 29436860
30 ALK NM_004304.4(ALK): c.3733T> G (p.Phe1245Val) single nucleotide variant Pathogenic rs281864720 GRCh38 Chromosome 2, 29213994: 29213994
31 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Uncertain significance rs121913254 GRCh37 Chromosome 1, 115256530: 115256530
32 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Uncertain significance rs121913254 GRCh38 Chromosome 1, 114713909: 114713909
33 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Uncertain significance rs121913254 NCBI36 Chromosome 1, 115058053: 115058053
34 KIF1B NM_015074.3(KIF1B): c.285C> G (p.Ala95=) single nucleotide variant Benign rs12402052 GRCh37 Chromosome 1, 10318652: 10318652
35 KIF1B NM_015074.3(KIF1B): c.285C> G (p.Ala95=) single nucleotide variant Benign rs12402052 GRCh38 Chromosome 1, 10258594: 10258594
36 KIF1B NM_015074.3(KIF1B): c.4161A> G (p.Pro1387=) single nucleotide variant Benign/Likely benign rs12125492 GRCh37 Chromosome 1, 10421878: 10421878
37 KIF1B NM_015074.3(KIF1B): c.4161A> G (p.Pro1387=) single nucleotide variant Benign/Likely benign rs12125492 GRCh38 Chromosome 1, 10361820: 10361820
38 KIF1B NM_015074.3(KIF1B): c.5163C> A (p.Thr1721=) single nucleotide variant Benign rs11121552 GRCh37 Chromosome 1, 10435324: 10435324
39 KIF1B NM_015074.3(KIF1B): c.5163C> A (p.Thr1721=) single nucleotide variant Benign rs11121552 GRCh38 Chromosome 1, 10375266: 10375266
40 TP53 NM_000546.5(TP53): c.842A> G (p.Asp281Gly) single nucleotide variant Pathogenic rs587781525 GRCh37 Chromosome 17, 7577096: 7577096
41 TP53 NM_000546.5(TP53): c.842A> G (p.Asp281Gly) single nucleotide variant Pathogenic rs587781525 GRCh38 Chromosome 17, 7673778: 7673778
42 KIF1B NM_015074.3(KIF1B): c.1639+10C> T single nucleotide variant Benign rs3753037 GRCh37 Chromosome 1, 10355834: 10355834
43 KIF1B NM_015074.3(KIF1B): c.1639+10C> T single nucleotide variant Benign rs3753037 GRCh38 Chromosome 1, 10295776: 10295776
44 PHOX2B NM_003924.3(PHOX2B): c.870C> A (p.Pro290=) single nucleotide variant Benign rs17885864 GRCh37 Chromosome 4, 41747899: 41747899
45 PHOX2B NM_003924.3(PHOX2B): c.870C> A (p.Pro290=) single nucleotide variant Benign rs17885864 GRCh38 Chromosome 4, 41745882: 41745882
46 PTPN11 NM_002834.4(PTPN11): c.214G> A (p.Ala72Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121918453 GRCh38 Chromosome 12, 112450394: 112450394
47 PTPN11 NM_002834.4(PTPN11): c.214G> A (p.Ala72Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121918453 GRCh37 Chromosome 12, 112888198: 112888198
48 TP53 NM_000546.5(TP53): c.842A> T (p.Asp281Val) single nucleotide variant Pathogenic/Likely pathogenic rs587781525 GRCh38 Chromosome 17, 7673778: 7673778
49 TP53 NM_000546.5(TP53): c.842A> T (p.Asp281Val) single nucleotide variant Pathogenic/Likely pathogenic rs587781525 GRCh37 Chromosome 17, 7577096: 7577096
50 KIF1B NM_015074.3(KIF1B): c.3507G> A (p.Pro1169=) single nucleotide variant Benign/Likely benign rs147318592 GRCh37 Chromosome 1, 10403302: 10403302

Copy number variations for Neuroblastoma from CNVD:

7 (show top 50) (show all 232)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13319 1 1 124300000 Amplification and lo ss Neuroblastoma
2 13325 1 1 124300000 Deletion Neuroblastoma
3 13344 1 1 125000000 Copy number Neuroblastoma
4 13349 1 1 125000000 Deletion Neuroblastoma
5 13355 1 1 125000000 Loss Neuroblastoma
6 13407 1 1 2300000 Copy number GNB1 Neuroblastoma
7 13408 1 1 2300000 Copy number SLC35E2 Neuroblastoma
8 13751 1 1 27800000 Loss Neuroblastoma
9 13762 1 1 28000000 Deletion Neuroblastoma
10 13837 1 10001852 10151200 Loss KIF1B Neuroblastoma
11 16476 1 125000000 249250621 Copy number CHD5 Neuroblastoma
12 16477 1 125000000 249250621 Copy number KIF1B Neuroblastoma
13 16597 1 128000000 247249719 Gain Neuroblastoma
14 16598 1 128000000 247249719 Gain Neuroblastoma
15 17283 1 142400000 148000000 Copy number NBPF23 Neuroblastoma
16 17374 1 142600000 147000000 Copy number NBPF1 Neuroblastoma
17 17375 1 142600000 147000000 Copy number NBPF15 Neuroblastoma
18 17376 1 142600000 147000000 Copy number NBPF3 Neuroblastoma
19 18773 1 147305744 147427061 Copy number NBPF Neuroblastoma
20 20614 1 153300000 247249719 Gain Neuroblastoma
21 20884 1 155000000 249250621 Gain Neuroblastoma
22 26022 1 195715155 196905060 Gain Neuroblastoma
23 27292 1 206429564 209469901 Gain Neuroblastoma
24 29290 1 2300000 12600000 Loss Neuroblastoma
25 29291 1 2300000 12600000 Loss Neuroblastoma
26 29292 1 2300000 12700000 Loss Neuroblastoma
27 32651 1 3815958 4146056 Amplification DFFB Neuroblastoma
28 32934 1 4056522 10472147 Loss Neuroblastoma
29 33588 1 46500000 51300000 Deletion Neuroblastoma
30 34972 1 5871399 5949729 Loss CHD5 Neuroblastoma
31 36107 1 7200000 16200000 Copy number Neuroblastoma
32 37032 1 84700000 88100000 Deletion Neuroblastoma
33 42798 10 40200000 135534747 Loss Neuroblastoma
34 43291 10 46100000 50100000 Gain Neuroblastoma
35 48305 11 1 10700000 Loss Neuroblastoma
36 48306 11 1 10700000 Loss Neuroblastoma
37 48334 11 1 2800000 Gain Neuroblastoma
38 49040 11 102400000 134452384 Deletion Neuroblastoma
39 49300 11 10515175 10701970 Amplification MRVI1 Neuroblastoma
40 49301 11 10515175 10701970 Amplification RNF141 Neuroblastoma
41 49302 11 10515175 10701970 Amplification XLKD1 Neuroblastoma
42 49698 11 110314720 118319416 Loss Neuroblastoma
43 50154 11 114581997 114912893 Loss CADM1 Neuroblastoma
44 51496 11 12700000 16200000 Copy number SOX6 Neuroblastoma
45 52328 11 16100000 21600000 Deletion Neuroblastoma
46 52785 11 19817525 19848438 Amplification NAV2 Neuroblastoma
47 52827 11 2043796 2201921 Amplification IGF2 Neuroblastoma
48 52828 11 2043796 2201921 Amplification INS Neuroblastoma
49 52829 11 2043796 2201921 Amplification TH Neuroblastoma
50 53355 11 2800000 10700000 Duplication LMO1 Neuroblastoma

Expression for Neuroblastoma

LifeMap Discovery
Genes differentially expressed in tissues of Neuroblastoma patients vs. healthy controls: 35 (show top 50) (show all 640)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 STAR steroidogenic acute regulatory protein Adrenal Gland - 9.57 0.000
2 CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 Adrenal Gland - 9.02 0.000
3 CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1 Adrenal Gland - 8.90 0.000
4 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 Adrenal Gland - 8.90 0.000
5 ELAVL4 ELAV like neuron-specific RNA binding protein 4 Adrenal Gland + 8.22 0.000
6 SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 Adrenal Gland - 8.16 0.000
7 HAND2 heart and neural crest derivatives expressed 2 Adrenal Gland + 8.05 0.000
8 STMN2 stathmin 2 Adrenal Gland + 7.76 0.000
9 PHOX2B paired-like homeobox 2b Adrenal Gland + 7.74 0.000
10 ISL1 ISL LIM homeobox 1 Adrenal Gland + 7.46 0.000
11 CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 Adrenal Gland - 7.45 0.000
12 MGST1 microsomal glutathione S-transferase 1 Adrenal Gland - 7.39 0.000
13 TUBB2B tubulin, beta 2B class IIb Adrenal Gland + 7.37 0.000
14 NPY neuropeptide Y Adrenal Gland + 7.34 0.000
15 GSTA1 glutathione S-transferase alpha 1 Adrenal Gland - 7.21 0.000
16 RTN1 reticulon 1 Adrenal Gland + 7.18 0.000
17 ADGRV1 adhesion G protein-coupled receptor V1 Adrenal Gland - 7.16 0.000
18 SCG2 secretogranin II Adrenal Gland + 7.15 0.000
19 DCX doublecortin Adrenal Gland + 7.06 0.000
20 NRK Nik related kinase Adrenal Gland - 7.01 0.000
21 MAB21L1 mab-21-like 1 (C. elegans) Adrenal Gland + 7.01 0.000
22 MRAP melanocortin 2 receptor accessory protein Adrenal Gland - 7.01 0.000
23 MGARP mitochondria-localized glutamic acid-rich protein Adrenal Gland - 6.97 0.000
24 SLC38A1 solute carrier family 38, member 1 Adrenal Gland + 6.95 0.000
25 RIMBP2 RIMS binding protein 2 Adrenal Gland + 6.84 0.000
26 CD24 CD24 molecule Adrenal Gland + 6.82 0.000
27 GNRHR gonadotropin-releasing hormone receptor Adrenal Gland - 6.80 0.000
28 LDLR low density lipoprotein receptor Adrenal Gland - 6.79 0.000
29 FDX1 ferredoxin 1 Adrenal Gland - 6.79 0.000
30 HMP19 HMP19 protein Adrenal Gland + 6.78 0.000
31 CPB1 carboxypeptidase B1 (tissue) Adrenal Gland - 6.76 0.000
32 CRMP1 collapsin response mediator protein 1 Adrenal Gland + 6.70 0.000
33 SOX11 SRY (sex determining region Y)-box 11 Adrenal Gland + 6.65 0.000
34 SYT1 synaptotagmin I Adrenal Gland + 6.61 0.000
35 GAP43 growth associated protein 43 Adrenal Gland + 6.61 0.000
36 TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta) Adrenal Gland + 6.59 0.000
37 SCN3A sodium channel, voltage gated, type III alpha subunit Adrenal Gland + 6.57 0.000
38 KRT1 keratin 1, type II Blood - 6.56 0.000
39 CELF4 CUGBP, Elav-like family member 4 Adrenal Gland + 6.53 0.000
40 CHGA chromogranin A Adrenal Gland + 6.45 0.000
41 ELAVL2 ELAV like neuron-specific RNA binding protein 2 Adrenal Gland + 6.41 0.000
42 SCARB1 scavenger receptor class B, member 1 Adrenal Gland - 6.33 0.000
43 IGFBPL1 insulin-like growth factor binding protein-like 1 Adrenal Gland + 6.17 0.000
44 INA internexin neuronal intermediate filament protein, alpha Adrenal Gland + 6.16 0.000
45 SNAP91 synaptosomal-associated protein, 91kDa Adrenal Gland + 6.16 0.000
46 CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal) Adrenal Gland + 6.16 0.000
47 PAK3 p21 protein (Cdc42/Rac)-activated kinase 3 Adrenal Gland + 6.15 0.000
48 STMN4 stathmin-like 4 Adrenal Gland + 6.11 0.000
49 SIGLEC11 sialic acid binding Ig-like lectin 11 Adrenal Gland - 6.05 0.000
50 PDZK1IP1 PDZK1 interacting protein 1 Blood - 6.03 0.000
Search GEO for disease gene expression data for Neuroblastoma.

Pathways for Neuroblastoma

Pathways related to Neuroblastoma according to KEGG:

37
# Name Kegg Source Accession
1 Transcriptional misregulation in cancer hsa05202

GO Terms for Neuroblastoma

Sources for Neuroblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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