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Ganglioneuroma

MedGen UID:
6545
Concept ID:
C0017075
Neoplastic Process
Synonyms: Gangliocytoma; Gangliocytomas; Ganglioneuromas
SNOMED CT: Gangliocytoma (128919000); Ganglioneuroma (116371000119107); Ganglioneuroma (53801007)
 
HPO: HP:0003005
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 (MEN 2) is classified into three subtypes: MEN 2A, FMTC (familial medullary thyroid carcinoma), and MEN 2B. All three subtypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN 2A and MEN 2B have an increased risk for pheochromocytoma; MEN 2A has an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN 2B 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 MEN 2B, early adulthood in MEN 2A, and middle age in FMTC.
Neuroblastoma
MedGen UID:
18012
Concept ID:
C0027819
Neoplastic Process
ALK-related neuroblastic tumor susceptibility results from heterozygosity for a germline ALK activating pathogenic variant in the tyrosine kinase domain that predisposes to neuroblastic tumors. The spectrum of neuroblastic tumors includes 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. At present there are no data regarding the lifetime risk to an individual with a germline ALK pathogenic variant of developing a neuroblastic tumor. Preliminary data from the ten reported families with ALK-related neuroblastic tumor susceptibility suggest that the overall penetrance is around 57% with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood.
Congenital central hypoventilation
MedGen UID:
220902
Concept ID:
C1275808
Disease or Syndrome
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory and autonomic regulation. It is typically characterized by a classic presentation in newborns and, rarely, a milder later-onset (LO-CCHS) presentation in toddlers, children, and adults. Classic CCHS presents in newborns as: Apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; Autonomic nervous system dysregulation (ANSD); and In some individuals, altered development of neural crest-derived structures (i.e., Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Individuals with CCHS who have been diagnosed as newborns and ventilated conservatively and consistently throughout childhood have now reached the age of 20 to 30 years; they are highly functional and live independently. LO-CCHS manifests as nocturnal alveolar hypoventilation and mild ANSD. Individuals with LO-CCHS who were not identified until age 20 years or older have now reached the age of 30 to 55 years.
Neuroblastoma 2
MedGen UID:
416607
Concept ID:
C2751682
Finding
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.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.Neuroblastoma occurs most often in children before age 5 and rarely occurs in adults.

Recent clinical studies

Etiology

Ikoma N, Santamaria-Barria JA, Wray C, Tsao K
BMJ Case Rep 2016 Nov 14;2016 doi: 10.1136/bcr-2016-217425. PMID: 27873762
Polat AV, Polat AK, Aslan K, Atmaca H, Karagoz F
JBR-BTR 2014 Mar-Apr;97(2):109-12. PMID: 25073244
Sánchez-Galán A, Barrena S, Vilanova-Sánchez A, Martín SH, Lopez-Fernandez S, García P, Lopez-Santamaria M, Martínez L, Tovar JA
Eur J Pediatr Surg 2014 Feb;24(1):25-30. Epub 2013 Dec 10 doi: 10.1055/s-0033-1358790. PMID: 24327216
Shawa H, Elsayes KM, Javadi S, Morani A, Williams MD, Lee JE, Waguespack SG, Busaidy NL, Vassilopoulou-Sellin R, Jimenez C, Habra MA
Clin Endocrinol (Oxf) 2014 Mar;80(3):342-7. Epub 2013 Sep 18 doi: 10.1111/cen.12320. PMID: 24033606
Guan YB, Zhang WD, Zeng QS, Chen GQ, He JX
Br J Radiol 2012 Aug;85(1016):e365-72. Epub 2012 May 9 doi: 10.1259/bjr/53395088. PMID: 22573298Free PMC Article

Diagnosis

Yamasaki M, Sato Y, Nomura T, Sato F, Uchino S, Mimata H
Asian J Endosc Surg 2017 Feb;10(1):66-69. Epub 2016 Oct 5 doi: 10.1111/ases.12332. PMID: 27704704
Paasch C, Harder A, Gatzky EJ, Ghadamgahi E, Spuler A, Siegel R
World J Surg Oncol 2016 Jul 26;14(1):194. doi: 10.1186/s12957-016-0953-y. PMID: 27461001Free PMC Article
Yang Y, Ren M, Yuan Z, Li K, Zhang Z, Zhang J, Xie L, Yang Z
World J Surg Oncol 2016 Mar 5;14:65. doi: 10.1186/s12957-016-0823-7. PMID: 26946494Free PMC Article
Kang DG, Helgeson MD, Britt JD, Tracey RW, Bernstock JD
Am J Orthop (Belle Mead NJ) 2014 Oct;43(10):E232-6. PMID: 25303450
Urata S, Yoshida M, Ebihara Y, Asakage T
Auris Nasus Larynx 2013 Dec;40(6):577-80. Epub 2013 Feb 20 doi: 10.1016/j.anl.2013.01.005. PMID: 23433475

Therapy

Majbar AM, Elmouhadi S, Elaloui M, Raiss M, Sabbah F, Hrora A, Ahallat M
BMC Res Notes 2014 Nov 7;7:791. doi: 10.1186/1756-0500-7-791. PMID: 25380617Free PMC Article
Kara T, Oztunali C
Clin Imaging 2013 Jul-Aug;37(4):767-8. Epub 2013 Jan 10 doi: 10.1016/j.clinimag.2012.11.003. PMID: 23313187
Okita Y, Narita Y, Yoshida A, Miyakita Y, Ohno M, Saio M, Yoshimi N, Shibui S
Pediatr Hematol Oncol 2012 Oct;29(7):647-51. Epub 2012 Sep 11 doi: 10.3109/08880018.2012.721871. PMID: 22966943
Batra YK, Rajeev S, Rao KL
Paediatr Anaesth 2007 May;17(5):479-83. doi: 10.1111/j.1460-9592.2006.02143.x. PMID: 17474956
Wadhwa NK, Gupta M, Afolabi A, Miller F
Am J Kidney Dis 2004 Aug;44(2):363-8. PMID: 15264196

Prognosis

Yang Y, Ren M, Yuan Z, Li K, Zhang Z, Zhang J, Xie L, Yang Z
World J Surg Oncol 2016 Mar 5;14:65. doi: 10.1186/s12957-016-0823-7. PMID: 26946494Free PMC Article
Shiohama T, Fujii K, Hino M, Shimizu K, Ohashi H, Kambe M, Nakatani Y, Mitsunaga T, Yoshida H, Ochiai H, Shimojo N
Am J Med Genet A 2016 Feb;170A(2):492-7. Epub 2015 Oct 13 doi: 10.1002/ajmg.a.37430. PMID: 26463893
Kang DG, Helgeson MD, Britt JD, Tracey RW, Bernstock JD
Am J Orthop (Belle Mead NJ) 2014 Oct;43(10):E232-6. PMID: 25303450
Yazici B, Özgün G, Adim SB
Ophthal Plast Reconstr Surg 2014 Nov-Dec;30(6):e140-2. doi: 10.1097/IOP.0b013e3182a74e55. PMID: 24833461
Urata S, Yoshida M, Ebihara Y, Asakage T
Auris Nasus Larynx 2013 Dec;40(6):577-80. Epub 2013 Feb 20 doi: 10.1016/j.anl.2013.01.005. PMID: 23433475

Clinical prediction guides

Shiohama T, Fujii K, Hino M, Shimizu K, Ohashi H, Kambe M, Nakatani Y, Mitsunaga T, Yoshida H, Ochiai H, Shimojo N
Am J Med Genet A 2016 Feb;170A(2):492-7. Epub 2015 Oct 13 doi: 10.1002/ajmg.a.37430. PMID: 26463893
Yorita K, Yonei A, Ayabe T, Nakada H, Nakashima K, Fukushima T, Kataoka H
J Med Case Rep 2014 Oct 15;8:345. doi: 10.1186/1752-1947-8-345. PMID: 25319096Free PMC Article
Albuquerque BS, Farias TP, Dias FL, Torman D
ORL J Otorhinolaryngol Relat Spec 2013;75(4):240-4. Epub 2013 Jul 26 doi: 10.1159/000353550. PMID: 23900231
Ishijima K, Kase S, Noda M, Ishida S
Eur J Ophthalmol 2011 Nov-Dec;21(6):837-40. doi: 10.5301/EJO.2011.8317. PMID: 21574161
Do SI, Kim GY, Ki KD, Huh CY, Kim YW, Lee J, Park YK, Lim SJ
Hum Pathol 2011 Oct;42(10):1573-5. Epub 2011 Apr 29 doi: 10.1016/j.humpath.2010.03.013. PMID: 21530998

Recent systematic reviews

Cossu G, Daniel RT, Messerer M
Clin Neurol Neurosurg 2016 Oct;149:122-35. Epub 2016 Aug 9 doi: 10.1016/j.clineuro.2016.08.002. PMID: 27521460
Tu A, Ma R, Maguire J, Akagami R
Can J Neurol Sci 2014 Jan;41(1):74-81. PMID: 24384341
Nordin AB, Fallon SC, Jea A, Kim ES
J Pediatr Surg 2013 Sep;48(9):1871-7. doi: 10.1016/j.jpedsurg.2013.04.029. PMID: 24074660
Li L, Slominski A, Qian J, Carlson JA
Am J Dermatopathol 2011 Feb;33(1):17-26. doi: 10.1097/DAD.0b013e3181e448cb. PMID: 21048488
Cannady SB, Chung BJ, Hirose K, Garabedian N, Van Den Abbeele T, Koltai PJ
Int J Pediatr Otorhinolaryngol 2006 Feb;70(2):287-94. Epub 2005 Aug 15 doi: 10.1016/j.ijporl.2005.06.020. PMID: 16102846

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