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Hereditary Neuroblastoma

MedGen UID:
858749
•Concept ID:
C3899155
•
Neoplastic Process
Synonym: Familial Neuroblastoma

Definition

Genetic inheritance of neuroblastoma caused by mutations in the ALK or PHOX2B genes. Familial neuroblastomas have a higher incidence of multiple primary tumors and are diagnosed at an earlier age. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary Neuroblastoma

Professional guidelines

PubMed

Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data.
Bonfiglio F, Legati A, Lasorsa VA, Palombo F, De Riso G, Isidori F, Russo S, Furini S, Merla G, Coppedè F, Tartaglia M; Omics Sciences - Bioinformatics and Epigenetics Working Groups of the Italian Society of Human Genetics (SIGU), Bruselles A, Pippucci T, Ciolfi A, Pinelli M, Capasso M
Hum Genomics 2024 Nov 5;18(1):120. doi: 10.1186/s40246-024-00684-8. PMID: 39501379Free PMC Article

Recent clinical studies

Etiology

Neonatal neuroblastoma.
Fisher JPH, Tweddle DA
Semin Fetal Neonatal Med 2012 Aug;17(4):207-215. Epub 2012 Jun 4 doi: 10.1016/j.siny.2012.05.002. PMID: 22673527
Advances in the understanding of constitutional and somatic genomic alterations in neuroblastoma.
Deyell RJ, Attiyeh EF
Cancer Genet 2011 Mar;204(3):113-21. doi: 10.1016/j.cancergen.2011.03.001. PMID: 21504710
Familial neuroblastoma - different histological manifestations in a family with three affected individuals.
Zimling ZG, Rechnitzer C, Rasmussen M, Petersen BL
APMIS 2004 Feb;112(2):153-8. doi: 10.1111/j.1600-0463.2004.apm1120211.x. PMID: 15056233

Diagnosis

Biological and Genetic Features of Neuroblastoma and Their Clinical Importance.
Aygun N
Curr Pediatr Rev 2018;14(2):73-90. doi: 10.2174/1573396314666180129101627. PMID: 29380702
Anaplastic Lymphoma Kinase as a Cancer Target in Pediatric Malignancies.
Mossé YP
Clin Cancer Res 2016 Feb 1;22(3):546-52. Epub 2015 Oct 26 doi: 10.1158/1078-0432.CCR-14-1100. PMID: 26503946Free PMC Article
Neonatal neuroblastoma.
Fisher JPH, Tweddle DA
Semin Fetal Neonatal Med 2012 Aug;17(4):207-215. Epub 2012 Jun 4 doi: 10.1016/j.siny.2012.05.002. PMID: 22673527
The Phox2B homeobox gene is mutated in sporadic neuroblastomas.
van Limpt V, Schramm A, van Lakeman A, Sluis P, Chan A, van Noesel M, Baas F, Caron H, Eggert A, Versteeg R
Oncogene 2004 Dec 9;23(57):9280-8. doi: 10.1038/sj.onc.1208157. PMID: 15516980

Therapy

Anaplastic Lymphoma Kinase as a Cancer Target in Pediatric Malignancies.
Mossé YP
Clin Cancer Res 2016 Feb 1;22(3):546-52. Epub 2015 Oct 26 doi: 10.1158/1078-0432.CCR-14-1100. PMID: 26503946Free PMC Article
Neuroblastoma in monozygotic twins with distinct presentation pathology and outcome: is it familial or in utero metastasis.
Abu-Arja R, Hashem H, El-Sheikh A, Abusin G
Pediatr Blood Cancer 2014 Jun;61(6):1124-5. Epub 2013 Dec 23 doi: 10.1002/pbc.24906. PMID: 24376049

Prognosis

Biological and Genetic Features of Neuroblastoma and Their Clinical Importance.
Aygun N
Curr Pediatr Rev 2018;14(2):73-90. doi: 10.2174/1573396314666180129101627. PMID: 29380702
Neuroblastoma in monozygotic twins with distinct presentation pathology and outcome: is it familial or in utero metastasis.
Abu-Arja R, Hashem H, El-Sheikh A, Abusin G
Pediatr Blood Cancer 2014 Jun;61(6):1124-5. Epub 2013 Dec 23 doi: 10.1002/pbc.24906. PMID: 24376049
Neonatal neuroblastoma.
Fisher JPH, Tweddle DA
Semin Fetal Neonatal Med 2012 Aug;17(4):207-215. Epub 2012 Jun 4 doi: 10.1016/j.siny.2012.05.002. PMID: 22673527
Oncogenic mutations of ALK in neuroblastoma.
Ogawa S, Takita J, Sanada M, Hayashi Y
Cancer Sci 2011 Feb;102(2):302-8. doi: 10.1111/j.1349-7006.2010.01825.x. PMID: 21205076Free PMC Article
The Phox2B homeobox gene is mutated in sporadic neuroblastomas.
van Limpt V, Schramm A, van Lakeman A, Sluis P, Chan A, van Noesel M, Baas F, Caron H, Eggert A, Versteeg R
Oncogene 2004 Dec 9;23(57):9280-8. doi: 10.1038/sj.onc.1208157. PMID: 15516980

Clinical prediction guides

Biological and Genetic Features of Neuroblastoma and Their Clinical Importance.
Aygun N
Curr Pediatr Rev 2018;14(2):73-90. doi: 10.2174/1573396314666180129101627. PMID: 29380702
Novel ALK inhibitor AZD3463 inhibits neuroblastoma growth by overcoming crizotinib resistance and inducing apoptosis.
Wang Y, Wang L, Guan S, Cao W, Wang H, Chen Z, Zhao Y, Yu Y, Zhang H, Pang JC, Huang SL, Akiyama Y, Yang Y, Sun W, Xu X, Shi Y, Zhang H, Kim ES, Muscal JA, Lu F, Yang J
Sci Rep 2016 Jan 20;6:19423. doi: 10.1038/srep19423. PMID: 26786851Free PMC Article
Neonatal neuroblastoma.
Fisher JPH, Tweddle DA
Semin Fetal Neonatal Med 2012 Aug;17(4):207-215. Epub 2012 Jun 4 doi: 10.1016/j.siny.2012.05.002. PMID: 22673527

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