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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

Lu X, Zhang X, Deng X, Yang Z, Shen X, Sheng H, Yin B, Zhang N, Lin J
World Neurosurg 2020 Aug;140:e61-e72. Epub 2020 Apr 25 doi: 10.1016/j.wneu.2020.04.145. PMID: 32344130
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
Jackson JR, Tran HC, Stein JE, Shimada H, Patel AM, Marachelian A, Kim ES
J Surg Res 2016 Jul;204(1):109-13. Epub 2016 Apr 23 doi: 10.1016/j.jss.2016.04.030. PMID: 27451875Free PMC Article

Recent clinical studies

Etiology

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
Mitchell WG, Blaes F
Semin Pediatr Neurol 2017 Aug;24(3):180-188. Epub 2017 Sep 1 doi: 10.1016/j.spen.2017.08.011. PMID: 29103425
Yang T, Huang Y, Xu T, Tan T, Yang J, Pan J, Hu C, Li J, Zou Y
Pediatr Surg Int 2017 Sep;33(9):955-959. Epub 2017 Jun 12 doi: 10.1007/s00383-017-4100-9. PMID: 28608056
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

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
Rodriguez EF, Jones R, Miller D, Rodriguez FJ
Semin Diagn Pathol 2020 Jul;37(4):179-186. Epub 2020 May 21 doi: 10.1053/j.semdp.2020.04.004. PMID: 32448592
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
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
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

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
Blessing MM, Alexandrescu S
Surg Pathol Clin 2020 Jun;13(2):235-247. Epub 2020 Apr 7 doi: 10.1016/j.path.2020.01.003. PMID: 32389264
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
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
Zajtchuk R, Bowen TE, Seyfer AE, Brott WH
J Thorac Cardiovasc Surg 1980 Oct;80(4):605-12. PMID: 7421294

Prognosis

Yuan X, Seneviratne JA, Du S, Xu Y, Chen Y, Jin Q, Jin X, Balachandran A, Huang S, Xu Y, Zhai Y, Lu L, Tang M, Dong Y, Cheung BB, Marshall GM, Shi W, Carter DR, Zhang C
Cell Rep 2022 Oct 4;41(1):111455. doi: 10.1016/j.celrep.2022.111455. PMID: 36198269
McGann EK, Goldberg AM, Lelegren MJ, Pickle JC, Bak MJ, Mark JR
Auris Nasus Larynx 2022 Oct;49(5):889-892. Epub 2021 Apr 16 doi: 10.1016/j.anl.2021.03.010. PMID: 33867181
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
Yang T, Huang Y, Xu T, Tan T, Yang J, Pan J, Hu C, Li J, Zou Y
Pediatr Surg Int 2017 Sep;33(9):955-959. Epub 2017 Jun 12 doi: 10.1007/s00383-017-4100-9. PMID: 28608056
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

Yuan X, Seneviratne JA, Du S, Xu Y, Chen Y, Jin Q, Jin X, Balachandran A, Huang S, Xu Y, Zhai Y, Lu L, Tang M, Dong Y, Cheung BB, Marshall GM, Shi W, Carter DR, Zhang C
Cell Rep 2022 Oct 4;41(1):111455. doi: 10.1016/j.celrep.2022.111455. PMID: 36198269
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
Yang T, Huang Y, Xu T, Tan T, Yang J, Pan J, Hu C, Li J, Zou Y
Pediatr Surg Int 2017 Sep;33(9):955-959. Epub 2017 Jun 12 doi: 10.1007/s00383-017-4100-9. PMID: 28608056
Lam AK
Endocr Pathol 2017 Sep;28(3):213-227. doi: 10.1007/s12022-017-9484-5. PMID: 28477311
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 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

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