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Neuroblastoma, susceptibility to, 3(NBLST3)

MedGen UID:
414083
Concept ID:
C2751681
Finding
Synonyms: ALK-Related Neuroblastic Tumor Susceptibility; ALK-Related Neuroblastoma Susceptibility; Neuroblastoma 3
 
Gene (location): ALK (2p23.2-23.1)
 
Monarch Initiative: MONDO:0013083
OMIM®: 613014

Disease characteristics

Excerpted from the GeneReview: ALK-Related Neuroblastic Tumor Susceptibility
ALK-related neuroblastic tumor susceptibility is characterized by increased risk for neuroblastic tumors including neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. Neuroblastoma is a more malignant tumor and ganglioneuroma a more benign tumor. Depending on the histologic findings, ganglioneuroblastoma can behave in a more aggressive fashion, like neuroblastoma, or in a benign fashion, like ganglioneuroma. Preliminary data from the ten reported families with ALK-related neuroblastic tumor susceptibility suggest an overall penetrance of approximately 57% with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood. [from GeneReviews]
Authors:
Emily G Greengard  |  Julie R Park   view full author information

Additional description

From MedlinePlus Genetics
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.

Neuroblastoma occurs most often in children before age 5 and rarely occurs in adults.

Individuals with neuroblastoma may develop general signs and symptoms such as irritability, fever, tiredness (fatigue), pain, loss of appetite, weight loss, or diarrhea. More specific signs and symptoms depend on the location of the tumor and where it has spread. A tumor in the abdomen can cause abdominal swelling. A tumor in the chest may lead to difficulty breathing. A tumor in the neck can cause nerve damage known as Horner syndrome, which leads to drooping eyelids, small pupils, decreased sweating, and red skin. Tumor metastasis to the bone can cause bone pain, bruises, pale skin, or dark circles around the eyes. Tumors in the backbone can press on the spinal cord and cause weakness, numbness, or paralysis in the arms or legs. A rash of bluish or purplish bumps that look like blueberries indicates that the neuroblastoma has spread to the skin.

In addition, neuroblastoma tumors can release hormones that may cause other signs and symptoms such as high blood pressure, rapid heartbeat, flushing of the skin, and sweating. In rare instances, individuals with neuroblastoma may develop opsoclonus myoclonus syndrome, which causes rapid eye movements and jerky muscle motions. This condition occurs when the immune system malfunctions and attacks nerve tissue.  https://medlineplus.gov/genetics/condition/neuroblastoma

Professional guidelines

PubMed

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J Pediatr Surg 2022 Mar;57(3):430-442. Epub 2021 Aug 24 doi: 10.1016/j.jpedsurg.2021.08.008. PMID: 34503817
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D
Genet Med 2020 Mar;22(3):610-621. Epub 2019 Nov 25 doi: 10.1038/s41436-019-0698-4. PMID: 31761904

Recent clinical studies

Etiology

Chang X, Bakay M, Liu Y, Glessner J, Rathi KS, Hou C, Qu H, Vaksman Z, Nguyen K, Sleiman PMA, Diskin SJ, Maris JM, Hakonarson H
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Diagnosis

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Chang X, Bakay M, Liu Y, Glessner J, Rathi KS, Hou C, Qu H, Vaksman Z, Nguyen K, Sleiman PMA, Diskin SJ, Maris JM, Hakonarson H
J Natl Cancer Inst 2020 Dec 14;112(12):1259-1266. doi: 10.1093/jnci/djaa024. PMID: 32096864Free PMC Article
Armenian S, Bhatia S
Am Soc Clin Oncol Educ Book 2018 May 23;38:3-12. doi: 10.1200/EDBK_100015. PMID: 30231396
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Owens C, Irwin M
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Therapy

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Armenian S, Bhatia S
Am Soc Clin Oncol Educ Book 2018 May 23;38:3-12. doi: 10.1200/EDBK_100015. PMID: 30231396
Nakagawara A, Li Y, Izumi H, Muramori K, Inada H, Nishi M
Jpn J Clin Oncol 2018 Mar 1;48(3):214-241. doi: 10.1093/jjco/hyx176. PMID: 29378002
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
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Prognosis

Bian J, Zhuo Z, Zhu J, Yang Z, Jiao Z, Li Y, Cheng J, Zhou H, Li S, Li L, He J, Liu Y
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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

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
Li Y, Lu T, Wang J, Zhuo Z, Miao L, Yang Z, Zhang J, Cheng J, Zhou H, Li S, Li L, He J, Li A
Aging (Albany NY) 2021 Dec 12;13(23):25426-25439. doi: 10.18632/aging.203760. PMID: 34897032Free PMC Article
Bian J, Zhuo Z, Zhu J, Yang Z, Jiao Z, Li Y, Cheng J, Zhou H, Li S, Li L, He J, Liu Y
J Cell Mol Med 2020 Aug;24(16):9280-9286. Epub 2020 Jul 2 doi: 10.1111/jcmm.15576. PMID: 32615646Free PMC Article
Armenian S, Bhatia S
Am Soc Clin Oncol Educ Book 2018 May 23;38:3-12. doi: 10.1200/EDBK_100015. PMID: 30231396
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

Banday AZ, Babbar A, Patra PK, Jindal AK, Suri D, Pandiarajan V, Rawat A, Gupta A, Singh S
J Trop Pediatr 2023 Apr 5;69(3) doi: 10.1093/tropej/fmad022. PMID: 37608506
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
Tserga E, Nandwani T, Edvall NK, Bulla J, Patel P, Canlon B, Cederroth CR, Baguley DM
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