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Ganglioneuroma

MedGen UID:
6545
Concept ID:
C0017075
Neoplastic Process
Synonyms: Gangliocytoma; Gangliocytomas; Ganglioneuromas
SNOMED CT: Ganglioneuroma (116371000119107); Ganglioneuroma (53801007)
 
HPO: HP:0003005
Monarch Initiative: MONDO:0005033
Orphanet: ORPHA251992

Definition

A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells. [from HPO]

Conditions with this feature

Multiple endocrine neoplasia type 2B
MedGen UID:
9959
Concept ID:
C0025269
Neoplastic Process
Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, FMTC (familial medullary thyroid carcinoma, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC.
Neuroblastoma, susceptibility to, 1
MedGen UID:
412713
Concept ID:
C2749485
Finding
Neuroblastoma, susceptibility to, 2
MedGen UID:
416607
Concept ID:
C2751682
Finding
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.\n\nNeuroblastoma occurs most often in children before age 5 and rarely occurs in adults.\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

Zhang ZW, Guo X, Qi XP
Endocr Metab Immune Disord Drug Targets 2021;21(3):534-543. doi: 10.2174/1871530320666200910112230. PMID: 32914730
Perrino CM, Ho A, Dall CP, Zynger DL
Histopathology 2017 Sep;71(3):475-479. Epub 2017 Jun 5 doi: 10.1111/his.13229. PMID: 28374498
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

Recent clinical studies

Etiology

D'Ermo G, Genuardi M
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101792. Epub 2022 Mar 17 doi: 10.1016/j.bpg.2022.101792. PMID: 35988965
Mete O, Asa SL, Gill AJ, Kimura N, de Krijger RR, Tischler A
Endocr Pathol 2022 Mar;33(1):90-114. Epub 2022 Mar 13 doi: 10.1007/s12022-022-09704-6. PMID: 35285002
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
Mathiesen JS, Effraimidis G, Rossing M, Rasmussen ÅK, Hoejberg L, Bastholt L, Godballe C, Oturai P, Feldt-Rasmussen U
Semin Cancer Biol 2022 Feb;79:163-179. Epub 2021 Apr 1 doi: 10.1016/j.semcancer.2021.03.035. PMID: 33812987
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

Diagnosis

Li F, Feng H, Liao J, Bao Y, Xu S, Qin G
Ear Nose Throat J 2023 Dec;102(12):765-771. Epub 2022 Nov 30 doi: 10.1177/01455613221142658. PMID: 36450599
Goldberg JL, Tong J, McGrath LB Jr
World Neurosurg 2022 Jun;162:15-16. Epub 2022 Mar 17 doi: 10.1016/j.wneu.2022.03.046. PMID: 35306201
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
Kayastha R , Acharya R , Pradhan S , Tuladhar AS , Shrestha A
Kathmandu Univ Med J (KUMJ) 2020 Jul-Sept.;18(71):316-319. PMID: 34158444
Bach J, Azher Q, Salih A
BMJ Case Rep 2018 Aug 20;2018 doi: 10.1136/bcr-2018-225763. PMID: 30131403Free PMC Article

Therapy

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
Tu A, Ma R, Maguire J, Akagami R
Can J Neurol Sci 2014 Jan;41(1):74-81. doi: 10.1017/s0317167100016292. PMID: 24384341
Westermann F, Schwab M
Cancer Lett 2002 Oct 28;184(2):127-47. doi: 10.1016/s0304-3835(02)00199-4. PMID: 12127685
Zajtchuk R, Bowen TE, Seyfer AE, Brott WH
J Thorac Cardiovasc Surg 1980 Oct;80(4):605-12. PMID: 7421294
Parish C
Thorax 1971 Jul;26(4):392-5. doi: 10.1136/thx.26.4.392. PMID: 4327710Free PMC Article

Prognosis

Mete O, Asa SL, Gill AJ, Kimura N, de Krijger RR, Tischler A
Endocr Pathol 2022 Mar;33(1):90-114. Epub 2022 Mar 13 doi: 10.1007/s12022-022-09704-6. PMID: 35285002
Mathiesen JS, Effraimidis G, Rossing M, Rasmussen ÅK, Hoejberg L, Bastholt L, Godballe C, Oturai P, Feldt-Rasmussen U
Semin Cancer Biol 2022 Feb;79:163-179. Epub 2021 Apr 1 doi: 10.1016/j.semcancer.2021.03.035. PMID: 33812987
Kayastha R , Acharya R , Pradhan S , Tuladhar AS , Shrestha A
Kathmandu Univ Med J (KUMJ) 2020 Jul-Sept.;18(71):316-319. PMID: 34158444
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
Yamanaka R, Hayano A
World Neurosurg 2017 Aug;104:713-722. Epub 2017 May 19 doi: 10.1016/j.wneu.2017.05.066. PMID: 28532923

Clinical prediction guides

D'Ermo G, Genuardi M
Best Pract Res Clin Gastroenterol 2022 Jun-Aug;58-59:101792. Epub 2022 Mar 17 doi: 10.1016/j.bpg.2022.101792. PMID: 35988965
Goldberg JL, Tong J, McGrath LB Jr
World Neurosurg 2022 Jun;162:15-16. Epub 2022 Mar 17 doi: 10.1016/j.wneu.2022.03.046. PMID: 35306201
Mete O, Asa SL, Gill AJ, Kimura N, de Krijger RR, Tischler A
Endocr Pathol 2022 Mar;33(1):90-114. Epub 2022 Mar 13 doi: 10.1007/s12022-022-09704-6. PMID: 35285002
Krejs GJ
Am J Med 1987 May 29;82(5B):37-48. doi: 10.1016/0002-9343(87)90425-6. PMID: 3035922
Bibro MC, Houlihan RK, Sheahan DG
Arch Surg 1980 Jan;115(1):75-7. doi: 10.1001/archsurg.1980.01380010063013. PMID: 7350889

Recent systematic reviews

Yousefi O, Saghebdoust S, Abdollahifard S, Motlagh MA, Farrokhi MR, Motiei-Langroudi R, Mousavi SR
World Neurosurg 2023 Dec;180:163-168.e7. Epub 2023 Sep 1 doi: 10.1016/j.wneu.2023.08.057. PMID: 37659751
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
Dages KN, Kohlenberg JD, Young WF Jr, Murad MH, Prokop L, Rivera M, Dy B, Foster T, Lyden M, McKenzie T, Thompson G, Bancos I
Clin Endocrinol (Oxf) 2021 Jul;95(1):47-57. Epub 2021 Mar 22 doi: 10.1111/cen.14460. PMID: 33721367Free 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
Yamanaka R, Hayano A
World Neurosurg 2017 Aug;104:713-722. Epub 2017 May 19 doi: 10.1016/j.wneu.2017.05.066. PMID: 28532923

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