U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Ganglioneuroblastoma

MedGen UID:
60218
Concept ID:
C0206718
Neoplastic Process
Synonym: Ganglioneuroblastomas
SNOMED CT: Ganglioneuroblastoma (69515008); Ganglioneuroblastoma (116381000119105)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0006747
Monarch Initiative: MONDO:0005035
Orphanet: ORPHA251877

Definition

Ganglioneuroblastoma is a rare type of primitive neuroectodermal tumor (PNET; see this term), affecting almost exclusively infants and young children under the age of 10, usually occurring in the posterior mediastinum, adrenal medulla and extra-adrenal retroperitoneum (but sometimes in the neck and pelvis), with metastasis most often presenting in the bones, and characterized clinically by pain, stridor, shortness of breath, peripheral neurological signs, superior vena cava syndrome and congenital Horner syndrome (see this term), depending on the location of the tumor. [from ORDO]

Conditions with this feature

Neuroblastoma, susceptibility to, 1
MedGen UID:
412713
Concept ID:
C2749485
Finding
Neuroblastoma, susceptibility to, 2
MedGen UID:
416607
Concept ID:
C2751682
Finding
Neuroblastoma occurs most often in children before age 5 and rarely occurs in adults.\n\nIn 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.\n\nIndividuals 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.\n\nNeuroblastoma 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.
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
MedGen UID:
1794285
Concept ID:
C5562075
Disease or Syndrome
Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control. The age of initial recognition of CCHS ranges from neonatal onset (i.e., in the first 30 days of life) to (less commonly) later onset (from 1 month to adulthood). Neonatal-onset CCHS is characterized by apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; ANSD including decreased heart rate beat-to-beat variability and sinus pauses; altered temperature regulation; and altered pupillary response to light. Some children have altered development of neural crest-derived structures (i.e., Hirschsprung disease, altered esophageal motility/dysphagia, and severe constipation even in the absence of Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Neurocognitive delay is variable, and possibly influenced by cyanotic breath holding, prolonged sinus pauses, need for 24-hour/day artificial ventilation, and seizures. Later-onset CCHS is characterized by alveolar hypoventilation during sleep and attenuated manifestations of ANSD.

Professional guidelines

PubMed

Fishel Ben Kenan R, Polishchuk AL, Hawkins RA, Braunstein SE, Matthay KK, DuBois SG, Haas-Kogan DA
Pediatr Blood Cancer 2022 Feb;69(2):e29396. Epub 2021 Oct 18 doi: 10.1002/pbc.29396. PMID: 34662499
Decarolis B, Simon T, Krug B, Leuschner I, Vokuhl C, Kaatsch P, von Schweinitz D, Klingebiel T, Mueller I, Schweigerer L, Berthold F, Hero B
BMC Cancer 2016 Jul 27;16:542. doi: 10.1186/s12885-016-2513-9. PMID: 27465021Free PMC Article
Zhuang B, Lv DK, Gao SJ, Meng JJ
Asian Pac J Cancer Prev 2014;15(23):10509-12. doi: 10.7314/apjcp.2014.15.23.10509. PMID: 25556501

Recent clinical studies

Etiology

Shimada H, Ikegaki N
Biomolecules 2022 Jan 5;12(1) doi: 10.3390/biom12010079. PMID: 35053227Free PMC Article
Choi JH, Ro JY
Semin Diagn Pathol 2022 Mar;39(2):120-130. Epub 2021 Jun 15 doi: 10.1053/j.semdp.2021.06.007. PMID: 34167847
Harvengt J, Gernay C, Mastouri M, Farhat N, Lebrethon MC, Seghaye MC, Bours V
J Clin Endocrinol Metab 2020 Jul 1;105(7) doi: 10.1210/clinem/dgaa247. PMID: 32407531
Alexander N, Sullivan K, Shaikh F, Irwin MS
Pediatr Blood Cancer 2018 May;65(5):e26964. Epub 2018 Jan 25 doi: 10.1002/pbc.26964. PMID: 29369484
Mody R, Naranjo A, Van Ryn C, Yu AL, London WB, Shulkin BL, Parisi MT, Servaes SE, Diccianni MB, Sondel PM, Bender JG, Maris JM, Park JR, Bagatell R
Lancet Oncol 2017 Jul;18(7):946-957. Epub 2017 May 23 doi: 10.1016/S1470-2045(17)30355-8. PMID: 28549783Free PMC Article

Diagnosis

Nezami BG, Modak S, Cardenas FI, Sarungbam J, Sirintrapun SJ, Gopalan A, Chen Y, Al-Ahmadie H, Fine SW, Reuter VE, Tickoo SK
Pediatr Blood Cancer 2023 Aug;70(8):e30434. Epub 2023 May 26 doi: 10.1002/pbc.30434. PMID: 37243318Free PMC Article
Choi JH, Ro JY
Semin Diagn Pathol 2022 Mar;39(2):120-130. Epub 2021 Jun 15 doi: 10.1053/j.semdp.2021.06.007. PMID: 34167847
Badiu Tișa I, Samașca G, Aldea C, Lupan I, Farcau D, Makovicky P
Neurol Sci 2019 Sep;40(9):1985-1989. Epub 2019 May 30 doi: 10.1007/s10072-019-03932-1. PMID: 31147856
Alexander N, Sullivan K, Shaikh F, Irwin MS
Pediatr Blood Cancer 2018 May;65(5):e26964. Epub 2018 Jan 25 doi: 10.1002/pbc.26964. PMID: 29369484
Pavlus JD, Carter BW, Tolley MD, Keung ES, Khorashadi L, Lichtenberger JP 3rd
AJR Am J Roentgenol 2016 Sep;207(3):552-61. Epub 2016 Jun 24 doi: 10.2214/AJR.16.16018. PMID: 27340927

Therapy

Yıldırım M, Öncel İ, Bektaş Ö, Tanalı G, Şahin S, Kutluk T, Teber S, Anlar B
Eur J Paediatr Neurol 2022 Nov;41:19-26. Epub 2022 Sep 20 doi: 10.1016/j.ejpn.2022.09.002. PMID: 36155293
Mody R, Naranjo A, Van Ryn C, Yu AL, London WB, Shulkin BL, Parisi MT, Servaes SE, Diccianni MB, Sondel PM, Bender JG, Maris JM, Park JR, Bagatell R
Lancet Oncol 2017 Jul;18(7):946-957. Epub 2017 May 23 doi: 10.1016/S1470-2045(17)30355-8. PMID: 28549783Free PMC Article
Roth J, Constantini S
Childs Nerv Syst 2017 May;33(5):787-792. Epub 2017 Mar 14 doi: 10.1007/s00381-017-3371-8. PMID: 28293736
Steenberge SP, Prayson RA
J Clin Neurosci 2014 Nov;21(11):2023-5. Epub 2014 Sep 10 doi: 10.1016/j.jocn.2014.07.007. PMID: 25216629
Zajtchuk R, Bowen TE, Seyfer AE, Brott WH
J Thorac Cardiovasc Surg 1980 Oct;80(4):605-12. PMID: 7421294

Prognosis

Zhang Y, Ma Y, Liu Q, Du Y, Peng L, Zhou J, Zhao Z, Li C, Wang S
Front Immunol 2023;14:1197773. Epub 2023 Sep 18 doi: 10.3389/fimmu.2023.1197773. PMID: 37790931Free PMC Article
Lampros M, Alexiou GA
Adv Exp Med Biol 2023;1405:405-420. doi: 10.1007/978-3-031-23705-8_15. PMID: 37452947
Jin QY, Du SB, Yuan XJ
Neoplasma 2022 Mar;69(2):464-473. Epub 2022 Jan 25 doi: 10.4149/neo_2021_210325N399. PMID: 35068159
Alexander N, Sullivan K, Shaikh F, Irwin MS
Pediatr Blood Cancer 2018 May;65(5):e26964. Epub 2018 Jan 25 doi: 10.1002/pbc.26964. PMID: 29369484
Mody R, Naranjo A, Van Ryn C, Yu AL, London WB, Shulkin BL, Parisi MT, Servaes SE, Diccianni MB, Sondel PM, Bender JG, Maris JM, Park JR, Bagatell R
Lancet Oncol 2017 Jul;18(7):946-957. Epub 2017 May 23 doi: 10.1016/S1470-2045(17)30355-8. PMID: 28549783Free PMC Article

Clinical prediction guides

Zhu X, Liu S, Yuan Y, Gu N, Sha J, Guo Y, Deng Y
BMC Pediatr 2024 Mar 16;24(1):186. doi: 10.1186/s12887-024-04673-7. PMID: 38491421Free PMC Article
Shimada H, Ikegaki N
Biomolecules 2022 Jan 5;12(1) doi: 10.3390/biom12010079. PMID: 35053227Free PMC Article
Whitlock RS, Mehl SC, Larson SK, Foster JH, Hicks J, Nuchtern JG, Sher AC, Vasudevan SA, Naik-Mathuria B
J Pediatr Surg 2022 Aug;57(8):1538-1543. Epub 2021 Jul 7 doi: 10.1016/j.jpedsurg.2021.07.002. PMID: 34281709
Jasiak A, Krawczyńska N, Iliszko M, Czarnota K, Buczkowski K, Stefanowicz J, Adamkiewicz-Drożyńska E, Cichosz G, Iżycka-Świeszewska E
Genes (Basel) 2021 Jan 26;12(2) doi: 10.3390/genes12020168. PMID: 33530592Free PMC Article
Wu W, Xu WJ, Liu JB, Sun J, Huang YM, Lv ZB
Math Biosci Eng 2019 Aug 8;16(6):7217-7229. doi: 10.3934/mbe.2019362. PMID: 31698611

Recent systematic reviews

Dhanasekar K, Visakan V, Tahir F, Balasubramanian SP
Langenbecks Arch Surg 2022 Mar;407(2):517-527. Epub 2021 Mar 2 doi: 10.1007/s00423-021-02129-5. PMID: 33651160Free PMC Article
Harvengt J, Gernay C, Mastouri M, Farhat N, Lebrethon MC, Seghaye MC, Bours V
J Clin Endocrinol Metab 2020 Jul 1;105(7) doi: 10.1210/clinem/dgaa247. PMID: 32407531
Sznewajs A, Pon E, Matthay KK
Pediatr Blood Cancer 2019 Oct;66(10):e27901. Epub 2019 Jul 2 doi: 10.1002/pbc.27901. PMID: 31264798
Sweeney M, Sweney M, Soldán MM, Clardy SL
Pediatr Neurol 2016 Dec;65:86-89. Epub 2016 Sep 2 doi: 10.1016/j.pediatrneurol.2016.08.024. PMID: 27707529

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...