| H00043 | |
| H number | H00043 |
| Name | Neuroblastoma |
| Description | Neuroblastoma is a tumor derived from primitive cells of the sympathetic nervous system and is the most common solid tumor in childhood. Approximately one-half of children have localized tumors that can be cured with surgery alone. These favorable tumors are characterized by near-triploid karyotypes with whole chromosome gains. These tumors rarely have structural rearrangements, and they usually express the TrkA neurotrophin receptor. Patients with these tumors are more likely to be less than 1 year of age. The remaining children have widespread metastatic disease or quite large, aggressive, localized tumors. These unfavorable tumors are characterized by structural changes, including deletions of 1p or 11q, unbalanced gain of 17q and/or amplification of the MYCN protooncogene. They might also express the TrkB neurotrophin receptor and its ligand, brain-derived neurotrophic factor (BDNF). These patients are usually older than 1 year of age, and have a poor long-term survival rate of approximately 30%. |
| Category | Cancer |
| Network | - |
| Gene | MYCN (normal/amplified) [HSA:4613] [KO:K09109] NTRK1 (high/low expression) [HSA:4914] [KO:K03176] NTRK2 (low/high expression) [HSA:4915] [KO:K04360] NTRK3 (high/low expression) [HSA:4916] [KO:K05101] (NBLST1) KIF1B [HSA:23095] [KO:K10392] (NBLST2) PHOX2B [HSA:8929] [KO:K09330] (NBLST3) ALK [HSA:238] [KO:K05119] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Cyclophosphamide [DR:D00287] Vincristine sulfate [DR:D02197] Doxorubicin hydrochloride [DR:D01275] Naxitamab [DR:D11416] |
| Comment | - |
| Other DBs | ICD-11: 2A02.1 2C20.3 ICD-10: C38 C47 C48 C72 C74 C76 MeSH: D009447 OMIM: 256700 613013 613014 |
| Reference | PMID:12612655 (MYCN, NTRK1/2/3) AUTHORS Brodeur GM. TITLE Neuroblastoma: biological insights into a clinical enigma. JOURNAL Nat Rev Cancer 3:203-16 (2003) DOI:10.1038/nrc1014 PMID:14697505 AUTHORS van Noesel MM, Versteeg R. TITLE Pediatric neuroblastomas: genetic and epigenetic 'danse macabre'. JOURNAL Gene 325:1-15 (2004) DOI:10.1016/j.gene.2003.09.042 PMID:18334619 (KIF1B) AUTHORS Schlisio S, Kenchappa RS, Vredeveld LC, George RE, Stewart R, Greulich H, Shahriari K, Nguyen NV, Pigny P, Dahia PL, Pomeroy SL, Maris JM, Look AT, Meyerson M, Peeper DS, Carter BD, Kaelin WG Jr TITLE The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. JOURNAL Genes Dev 22:884-93 (2008) DOI:10.1101/gad.1648608 PMID:15024693 (PHOX2B) AUTHORS Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G, Coze C, Philip N, Frebourg T, Munnich A, Lyonnet S, Delattre O, Amiel J TITLE Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. JOURNAL Am J Hum Genet 74:761-4 (2004) DOI:10.1086/383253 PMID:18724359 (ALK) AUTHORS Mosse YP, Laudenslager M, Longo L, Cole KA, Wood A, Attiyeh EF, Laquaglia MJ, Sennett R, Lynch JE, Perri P, Laureys G, Speleman F, Kim C, Hou C, Hakonarson H, Torkamani A, Schork NJ, Brodeur GM, Tonini GP, Rappaport E, Devoto M, Maris JM TITLE Identification of ALK as a major familial neuroblastoma predisposition gene. JOURNAL Nature 455:930-5 (2008) DOI:10.1038/nature07261 |