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Neuroblastoma, susceptibility to, 5(NBLST5)

MedGen UID:
442787
•Concept ID:
C2751679
•
Finding
Synonyms: NBLST5; Neuroblastoma 5
 
Monarch Initiative: MONDO:0013085
OMIM®: 613016

Professional guidelines

PubMed

Pediatric solid tumors and associated cancer predisposition syndromes: Workup, management, and surveillance. A summary from the APSA Cancer Committee.
Grant CN, Rhee D, Tracy ET, Aldrink JH, Baertschiger RM, Lautz TB, Glick RD, Rodeberg DA, Ehrlich PF, Christison-Lagay E
J Pediatr Surg 2022 Mar;57(3):430-442. Epub 2021 Aug 24 doi: 10.1016/j.jpedsurg.2021.08.008. PMID: 34503817
Synergic Therapeutic Potential of PEA-Um Treatment and NAAA Enzyme Silencing In the Management of Neuroinflammation.
Casili G, Lanza M, Campolo M, Siracusa R, Paterniti I, Ardizzone A, Scuderi SA, Cuzzocrea S, Esposito E
Int J Mol Sci 2020 Oct 11;21(20) doi: 10.3390/ijms21207486. PMID: 33050589Free PMC Article
Recent biologic and genetic advances in neuroblastoma: Implications for diagnostic, risk stratification, and treatment strategies.
Newman EA, Nuchtern JG
Semin Pediatr Surg 2016 Oct;25(5):257-264. Epub 2016 Sep 28 doi: 10.1053/j.sempedsurg.2016.09.007. PMID: 27955728

Recent clinical studies

Etiology

Predicting and Preventing Anthracycline-Related Cardiotoxicity.
Armenian S, Bhatia S
Am Soc Clin Oncol Educ Book 2018 May 23;38:3-12. doi: 10.1200/EDBK_100015. PMID: 30231396
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.
Telomeres Mendelian Randomization Collaboration, Haycock PC, Burgess S, Nounu A, Zheng J, Okoli GN, Bowden J, Wade KH, Timpson NJ, Evans DM, Willeit P, Aviv A, Gaunt TR, Hemani G, Mangino M, Ellis HP, Kurian KM, Pooley KA, Eeles RA, Lee JE, Fang S, Chen WV, Law MH, Bowdler LM, Iles MM, Yang Q, Worrall BB, Markus HS, Hung RJ, Amos CI, Spurdle AB, Thompson DJ, O'Mara TA, Wolpin B, Amundadottir L, Stolzenberg-Solomon R, Trichopoulou A, Onland-Moret NC, Lund E, Duell EJ, Canzian F, Severi G, Overvad K, Gunter MJ, Tumino R, Svenson U, van Rij A, Baas AF, Bown MJ, Samani NJ, van t'Hof FNG, Tromp G, Jones GT, Kuivaniemi H, Elmore JR, Johansson M, Mckay J, Scelo G, Carreras-Torres R, Gaborieau V, Brennan P, Bracci PM, Neale RE, Olson SH, Gallinger S, Li D, Petersen GM, Risch HA, Klein AP, Han J, Abnet CC, Freedman ND, Taylor PR, Maris JM, Aben KK, Kiemeney LA, Vermeulen SH, Wiencke JK, Walsh KM, Wrensch M, Rice T, Turnbull C, Litchfield K, Paternoster L, Standl M, Abecasis GR, SanGiovanni JP, Li Y, Mijatovic V, Sapkota Y, Low SK, Zondervan KT, Montgomery GW, Nyholt DR, van Heel DA, Hunt K, Arking DE, Ashar FN, Sotoodehnia N, Woo D, Rosand J, Comeau ME, Brown WM, Silverman EK, Hokanson JE, Cho MH, Hui J, Ferreira MA, Thompson PJ, Morrison AC, Felix JF, Smith NL, Christiano AM, Petukhova L, Betz RC, Fan X, Zhang X, Zhu C, Langefeld CD, Thompson SD, Wang F, Lin X, Schwartz DA, Fingerlin T, Rotter JI, Cotch MF, Jensen RA, Munz M, Dommisch H, Schaefer AS, Han F, Ollila HM, Hillary RP, Albagha O, Ralston SH, Zeng C, Zheng W, Shu XO, Reis A, Uebe S, Hüffmeier U, Kawamura Y, Otowa T, Sasaki T, Hibberd ML, Davila S, Xie G, Siminovitch K, Bei JX, Zeng YX, Försti A, Chen B, Landi S, Franke A, Fischer A, Ellinghaus D, Flores C, Noth I, Ma SF, Foo JN, Liu J, Kim JW, Cox DG, Delattre O, Mirabeau O, Skibola CF, Tang CS, Garcia-Barcelo M, Chang KP, Su WH, Chang YS, Martin NG, Gordon S, Wade TD, Lee C, Kubo M, Cha PC, Nakamura Y, Levy D, Kimura M, Hwang SJ, Hunt S, Spector T, Soranzo N, Manichaikul AW, Barr RG, Kahali B, Speliotes E, Yerges-Armstrong LM, Cheng CY, Jonas JB, Wong TY, Fogh I, Lin K, Powell JF, Rice K, Relton CL, Martin RM, Davey Smith G
JAMA Oncol 2017 May 1;3(5):636-651. doi: 10.1001/jamaoncol.2016.5945. PMID: 28241208Free PMC Article
The genetic landscape of high-risk neuroblastoma.
Pugh TJ, Morozova O, Attiyeh EF, Asgharzadeh S, Wei JS, Auclair D, Carter SL, Cibulskis K, Hanna M, Kiezun A, Kim J, Lawrence MS, Lichenstein L, McKenna A, Pedamallu CS, Ramos AH, Shefler E, Sivachenko A, Sougnez C, Stewart C, Ally A, Birol I, Chiu R, Corbett RD, Hirst M, Jackman SD, Kamoh B, Khodabakshi AH, Krzywinski M, Lo A, Moore RA, Mungall KL, Qian J, Tam A, Thiessen N, Zhao Y, Cole KA, Diamond M, Diskin SJ, Mosse YP, Wood AC, Ji L, Sposto R, Badgett T, London WB, Moyer Y, Gastier-Foster JM, Smith MA, Guidry Auvil JM, Gerhard DS, Hogarty MD, Jones SJ, Lander ES, Gabriel SB, Getz G, Seeger RC, Khan J, Marra MA, Meyerson M, Maris JM
Nat Genet 2013 Mar;45(3):279-84. Epub 2013 Jan 20 doi: 10.1038/ng.2529. PMID: 23334666Free PMC Article
The epidemiology of neuroblastoma: a review.
Heck JE, Ritz B, Hung RJ, Hashibe M, Boffetta P
Paediatr Perinat Epidemiol 2009 Mar;23(2):125-43. doi: 10.1111/j.1365-3016.2008.00983.x. PMID: 19159399
Neonatal neoplasms.
Halperin EC
Int J Radiat Oncol Biol Phys 2000 Apr 1;47(1):171-8. doi: 10.1016/s0360-3016(00)00424-7. PMID: 10758320

Diagnosis

Neuroimaging features of FOXR2-activated CNS neuroblastoma: A case series and systematic review.
Shimazaki K, Kurokawa R, Franson A, Kurokawa M, Baba A, Bou-Maroun L, Kim J, Moritani T
J Neuroimaging 2023 May-Jun;33(3):359-367. Epub 2023 Feb 20 doi: 10.1111/jon.13095. PMID: 36806312
Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma.
Egolf LE, Vaksman Z, Lopez G, Rokita JL, Modi A, Basta PV, Hakonarson H, Olshan AF, Diskin SJ
Am J Hum Genet 2019 Sep 5;105(3):658-668. Epub 2019 Aug 29 doi: 10.1016/j.ajhg.2019.07.020. PMID: 31474320Free PMC Article
Predicting and Preventing Anthracycline-Related Cardiotoxicity.
Armenian S, Bhatia S
Am Soc Clin Oncol Educ Book 2018 May 23;38:3-12. doi: 10.1200/EDBK_100015. PMID: 30231396
The epidemiology of neuroblastoma: a review.
Heck JE, Ritz B, Hung RJ, Hashibe M, Boffetta P
Paediatr Perinat Epidemiol 2009 Mar;23(2):125-43. doi: 10.1111/j.1365-3016.2008.00983.x. PMID: 19159399
Neonatal neoplasms.
Halperin EC
Int J Radiat Oncol Biol Phys 2000 Apr 1;47(1):171-8. doi: 10.1016/s0360-3016(00)00424-7. PMID: 10758320

Therapy

Photodynamic therapy with 5-aminolevulinic acid: A new diagnostic, therapeutic, and surgical aid for neuroblastoma.
Watanabe T, Nishio Y, Yamamoto Y, Shimizu T, Li XK, Okita H, Kuroda T
J Pediatr Surg 2022 Jul;57(7):1281-1285. Epub 2022 Mar 14 doi: 10.1016/j.jpedsurg.2022.02.028. PMID: 35396087
Genetic regulation of spermine oxidase activity and cancer risk: a Mendelian randomization study.
Fadista J, Yakimov V, Võsa U, Hansen CS, Kasela S, Skotte L, Geller F, Courraud J, Esko T, Kukuškina V, Buil A, Melbye M, Werge TM, Hougaard DM, Milani L, Bybjerg-Grauholm J, Cohen AS, Feenstra B
Sci Rep 2021 Aug 31;11(1):17463. doi: 10.1038/s41598-021-97069-x. PMID: 34465810Free PMC Article
Transcriptomic Landscape of Cisplatin-Resistant Neuroblastoma Cells.
Rodrigo MAM, Buchtelova H, Jimenez AMJ, Adam P, Babula P, Heger Z, Adam V
Cells 2019 Mar 12;8(3) doi: 10.3390/cells8030235. PMID: 30871063Free PMC Article
Predicting and Preventing Anthracycline-Related Cardiotoxicity.
Armenian S, Bhatia S
Am Soc Clin Oncol Educ Book 2018 May 23;38:3-12. doi: 10.1200/EDBK_100015. PMID: 30231396
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.
Telomeres Mendelian Randomization Collaboration, Haycock PC, Burgess S, Nounu A, Zheng J, Okoli GN, Bowden J, Wade KH, Timpson NJ, Evans DM, Willeit P, Aviv A, Gaunt TR, Hemani G, Mangino M, Ellis HP, Kurian KM, Pooley KA, Eeles RA, Lee JE, Fang S, Chen WV, Law MH, Bowdler LM, Iles MM, Yang Q, Worrall BB, Markus HS, Hung RJ, Amos CI, Spurdle AB, Thompson DJ, O'Mara TA, Wolpin B, Amundadottir L, Stolzenberg-Solomon R, Trichopoulou A, Onland-Moret NC, Lund E, Duell EJ, Canzian F, Severi G, Overvad K, Gunter MJ, Tumino R, Svenson U, van Rij A, Baas AF, Bown MJ, Samani NJ, van t'Hof FNG, Tromp G, Jones GT, Kuivaniemi H, Elmore JR, Johansson M, Mckay J, Scelo G, Carreras-Torres R, Gaborieau V, Brennan P, Bracci PM, Neale RE, Olson SH, Gallinger S, Li D, Petersen GM, Risch HA, Klein AP, Han J, Abnet CC, Freedman ND, Taylor PR, Maris JM, Aben KK, Kiemeney LA, Vermeulen SH, Wiencke JK, Walsh KM, Wrensch M, Rice T, Turnbull C, Litchfield K, Paternoster L, Standl M, Abecasis GR, SanGiovanni JP, Li Y, Mijatovic V, Sapkota Y, Low SK, Zondervan KT, Montgomery GW, Nyholt DR, van Heel DA, Hunt K, Arking DE, Ashar FN, Sotoodehnia N, Woo D, Rosand J, Comeau ME, Brown WM, Silverman EK, Hokanson JE, Cho MH, Hui J, Ferreira MA, Thompson PJ, Morrison AC, Felix JF, Smith NL, Christiano AM, Petukhova L, Betz RC, Fan X, Zhang X, Zhu C, Langefeld CD, Thompson SD, Wang F, Lin X, Schwartz DA, Fingerlin T, Rotter JI, Cotch MF, Jensen RA, Munz M, Dommisch H, Schaefer AS, Han F, Ollila HM, Hillary RP, Albagha O, Ralston SH, Zeng C, Zheng W, Shu XO, Reis A, Uebe S, Hüffmeier U, Kawamura Y, Otowa T, Sasaki T, Hibberd ML, Davila S, Xie G, Siminovitch K, Bei JX, Zeng YX, Försti A, Chen B, Landi S, Franke A, Fischer A, Ellinghaus D, Flores C, Noth I, Ma SF, Foo JN, Liu J, Kim JW, Cox DG, Delattre O, Mirabeau O, Skibola CF, Tang CS, Garcia-Barcelo M, Chang KP, Su WH, Chang YS, Martin NG, Gordon S, Wade TD, Lee C, Kubo M, Cha PC, Nakamura Y, Levy D, Kimura M, Hwang SJ, Hunt S, Spector T, Soranzo N, Manichaikul AW, Barr RG, Kahali B, Speliotes E, Yerges-Armstrong LM, Cheng CY, Jonas JB, Wong TY, Fogh I, Lin K, Powell JF, Rice K, Relton CL, Martin RM, Davey Smith G
JAMA Oncol 2017 May 1;3(5):636-651. doi: 10.1001/jamaoncol.2016.5945. PMID: 28241208Free PMC Article

Prognosis

Transcriptomic Landscape of Cisplatin-Resistant Neuroblastoma Cells.
Rodrigo MAM, Buchtelova H, Jimenez AMJ, Adam P, Babula P, Heger Z, Adam V
Cells 2019 Mar 12;8(3) doi: 10.3390/cells8030235. PMID: 30871063Free PMC Article
Predicting and Preventing Anthracycline-Related Cardiotoxicity.
Armenian S, Bhatia S
Am Soc Clin Oncol Educ Book 2018 May 23;38:3-12. doi: 10.1200/EDBK_100015. PMID: 30231396
Recent biologic and genetic advances in neuroblastoma: Implications for diagnostic, risk stratification, and treatment strategies.
Newman EA, Nuchtern JG
Semin Pediatr Surg 2016 Oct;25(5):257-264. Epub 2016 Sep 28 doi: 10.1053/j.sempedsurg.2016.09.007. PMID: 27955728
Neuroblastoma: paradigm for precision medicine.
Irwin MS, Park JR
Pediatr Clin North Am 2015 Feb;62(1):225-56. doi: 10.1016/j.pcl.2014.09.015. PMID: 25435121
Neonatal neoplasms.
Halperin EC
Int J Radiat Oncol Biol Phys 2000 Apr 1;47(1):171-8. doi: 10.1016/s0360-3016(00)00424-7. PMID: 10758320

Clinical prediction guides

Neuroimaging features of FOXR2-activated CNS neuroblastoma: A case series and systematic review.
Shimazaki K, Kurokawa R, Franson A, Kurokawa M, Baba A, Bou-Maroun L, Kim J, Moritani T
J Neuroimaging 2023 May-Jun;33(3):359-367. Epub 2023 Feb 20 doi: 10.1111/jon.13095. PMID: 36806312
Susceptibility of neuroblastoma and glioblastoma cell lines to SARS-CoV-2 infection.
Bielarz V, Willemart K, Avalosse N, De Swert K, Lotfi R, Lejeune N, Poulain F, Ninanne N, Gilloteaux J, Gillet N, Nicaise C
Brain Res 2021 May 1;1758:147344. Epub 2021 Feb 5 doi: 10.1016/j.brainres.2021.147344. PMID: 33556379Free PMC Article
Predicting and Preventing Anthracycline-Related Cardiotoxicity.
Armenian S, Bhatia S
Am Soc Clin Oncol Educ Book 2018 May 23;38:3-12. doi: 10.1200/EDBK_100015. PMID: 30231396
The role of anaplastic lymphoma kinase in pediatric cancers.
Takita J
Cancer Sci 2017 Oct;108(10):1913-1920. Epub 2017 Aug 24 doi: 10.1111/cas.13333. PMID: 28756644Free PMC Article
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.
Telomeres Mendelian Randomization Collaboration, Haycock PC, Burgess S, Nounu A, Zheng J, Okoli GN, Bowden J, Wade KH, Timpson NJ, Evans DM, Willeit P, Aviv A, Gaunt TR, Hemani G, Mangino M, Ellis HP, Kurian KM, Pooley KA, Eeles RA, Lee JE, Fang S, Chen WV, Law MH, Bowdler LM, Iles MM, Yang Q, Worrall BB, Markus HS, Hung RJ, Amos CI, Spurdle AB, Thompson DJ, O'Mara TA, Wolpin B, Amundadottir L, Stolzenberg-Solomon R, Trichopoulou A, Onland-Moret NC, Lund E, Duell EJ, Canzian F, Severi G, Overvad K, Gunter MJ, Tumino R, Svenson U, van Rij A, Baas AF, Bown MJ, Samani NJ, van t'Hof FNG, Tromp G, Jones GT, Kuivaniemi H, Elmore JR, Johansson M, Mckay J, Scelo G, Carreras-Torres R, Gaborieau V, Brennan P, Bracci PM, Neale RE, Olson SH, Gallinger S, Li D, Petersen GM, Risch HA, Klein AP, Han J, Abnet CC, Freedman ND, Taylor PR, Maris JM, Aben KK, Kiemeney LA, Vermeulen SH, Wiencke JK, Walsh KM, Wrensch M, Rice T, Turnbull C, Litchfield K, Paternoster L, Standl M, Abecasis GR, SanGiovanni JP, Li Y, Mijatovic V, Sapkota Y, Low SK, Zondervan KT, Montgomery GW, Nyholt DR, van Heel DA, Hunt K, Arking DE, Ashar FN, Sotoodehnia N, Woo D, Rosand J, Comeau ME, Brown WM, Silverman EK, Hokanson JE, Cho MH, Hui J, Ferreira MA, Thompson PJ, Morrison AC, Felix JF, Smith NL, Christiano AM, Petukhova L, Betz RC, Fan X, Zhang X, Zhu C, Langefeld CD, Thompson SD, Wang F, Lin X, Schwartz DA, Fingerlin T, Rotter JI, Cotch MF, Jensen RA, Munz M, Dommisch H, Schaefer AS, Han F, Ollila HM, Hillary RP, Albagha O, Ralston SH, Zeng C, Zheng W, Shu XO, Reis A, Uebe S, Hüffmeier U, Kawamura Y, Otowa T, Sasaki T, Hibberd ML, Davila S, Xie G, Siminovitch K, Bei JX, Zeng YX, Försti A, Chen B, Landi S, Franke A, Fischer A, Ellinghaus D, Flores C, Noth I, Ma SF, Foo JN, Liu J, Kim JW, Cox DG, Delattre O, Mirabeau O, Skibola CF, Tang CS, Garcia-Barcelo M, Chang KP, Su WH, Chang YS, Martin NG, Gordon S, Wade TD, Lee C, Kubo M, Cha PC, Nakamura Y, Levy D, Kimura M, Hwang SJ, Hunt S, Spector T, Soranzo N, Manichaikul AW, Barr RG, Kahali B, Speliotes E, Yerges-Armstrong LM, Cheng CY, Jonas JB, Wong TY, Fogh I, Lin K, Powell JF, Rice K, Relton CL, Martin RM, Davey Smith G
JAMA Oncol 2017 May 1;3(5):636-651. doi: 10.1001/jamaoncol.2016.5945. PMID: 28241208Free PMC Article

Recent systematic reviews

Neuroimaging features of FOXR2-activated CNS neuroblastoma: A case series and systematic review.
Shimazaki K, Kurokawa R, Franson A, Kurokawa M, Baba A, Bou-Maroun L, Kim J, Moritani T
J Neuroimaging 2023 May-Jun;33(3):359-367. Epub 2023 Feb 20 doi: 10.1111/jon.13095. PMID: 36806312
The genetic vulnerability to cisplatin ototoxicity: a systematic review.
Tserga E, Nandwani T, Edvall NK, Bulla J, Patel P, Canlon B, Cederroth CR, Baguley DM
Sci Rep 2019 Mar 5;9(1):3455. doi: 10.1038/s41598-019-40138-z. PMID: 30837596Free PMC Article

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