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Ganglioneuromatosis

MedGen UID:
90813
•Concept ID:
C0334595
•
Neoplastic Process
SNOMED CT: Ganglioneuromatosis (12060004)
 
HPO: HP:0025151

Definition

Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers. [from HPO]

Professional guidelines

PubMed

Diagnosis, treatment, and follow-up of medullary thyroid carcinoma: recommendations by the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism.
Maia AL, Siqueira DR, Kulcsar MA, Tincani AJ, Mazeto GM, Maciel LM
Arq Bras Endocrinol Metabol 2014 Oct;58(7):667-700. doi: 10.1590/0004-2730000003427. PMID: 25372577
Classification and diagnostic criteria of variants of Hirschsprung's disease.
Friedmacher F, Puri P
Pediatr Surg Int 2013 Sep;29(9):855-72. doi: 10.1007/s00383-013-3351-3. PMID: 23943250
Genetic alterations in sporadic and hereditary colorectal cancer: implementations for screening and follow-up.
Souglakos J
Dig Dis 2007;25(1):9-19. doi: 10.1159/000099166. PMID: 17384504

Recent clinical studies

Etiology

Multiple endocrine neoplasia type 2: A review.
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
Pediatric intestinal motility disorders.
Gfroerer S, Rolle U
World J Gastroenterol 2015 Sep 7;21(33):9683-7. doi: 10.3748/wjg.v21.i33.9683. PMID: 26361414Free PMC Article
Multiple endocrine neoplasia type 2: an overview.
Moline J, Eng C
Genet Med 2011 Sep;13(9):755-64. doi: 10.1097/GIM.0b013e318216cc6d. PMID: 21552134
Hereditary gastrointestinal polyposis syndromes.
Haggitt RC, Reid BJ
Am J Surg Pathol 1986 Dec;10(12):871-87. doi: 10.1097/00000478-198612000-00006. PMID: 3024515
Multiple endocrine neoplasia, type 2b.
Carney JA, Sizemore GW, Hayles AB
Pathobiol Annu 1978;8:105-53. PMID: 364372

Diagnosis

Isolated intestinal Ganglioneuromatosis: case report and literature review.
Mauro A, Zenzeri L, Esposito F, Gaglione G, Strisciuglio C, Pilozzi E, Corleto VD, Ziparo C, Di Nardo G
Ital J Pediatr 2021 Mar 30;47(1):80. doi: 10.1186/s13052-021-01024-5. PMID: 33785023Free PMC Article
Patient quality of life and prognosis in multiple endocrine neoplasia type 2.
Grey J, Winter K
Endocr Relat Cancer 2018 Feb;25(2):T69-T77. Epub 2017 Oct 24 doi: 10.1530/ERC-17-0335. PMID: 29066504
Pediatric intestinal motility disorders.
Gfroerer S, Rolle U
World J Gastroenterol 2015 Sep 7;21(33):9683-7. doi: 10.3748/wjg.v21.i33.9683. PMID: 26361414Free PMC Article
Diagnosis, treatment, and follow-up of medullary thyroid carcinoma: recommendations by the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism.
Maia AL, Siqueira DR, Kulcsar MA, Tincani AJ, Mazeto GM, Maciel LM
Arq Bras Endocrinol Metabol 2014 Oct;58(7):667-700. doi: 10.1590/0004-2730000003427. PMID: 25372577
Hereditary gastrointestinal polyposis syndromes.
Haggitt RC, Reid BJ
Am J Surg Pathol 1986 Dec;10(12):871-87. doi: 10.1097/00000478-198612000-00006. PMID: 3024515

Therapy

Development of RET kinase inhibitors for targeted cancer therapy.
Mologni L
Curr Med Chem 2011;18(2):162-75. doi: 10.2174/092986711794088308. PMID: 21110809

Prognosis

Multiple endocrine neoplasia type 2: A review.
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
Patient quality of life and prognosis in multiple endocrine neoplasia type 2.
Grey J, Winter K
Endocr Relat Cancer 2018 Feb;25(2):T69-T77. Epub 2017 Oct 24 doi: 10.1530/ERC-17-0335. PMID: 29066504
Pediatric intestinal motility disorders.
Gfroerer S, Rolle U
World J Gastroenterol 2015 Sep 7;21(33):9683-7. doi: 10.3748/wjg.v21.i33.9683. PMID: 26361414Free PMC Article
Diagnosis, treatment, and follow-up of medullary thyroid carcinoma: recommendations by the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism.
Maia AL, Siqueira DR, Kulcsar MA, Tincani AJ, Mazeto GM, Maciel LM
Arq Bras Endocrinol Metabol 2014 Oct;58(7):667-700. doi: 10.1590/0004-2730000003427. PMID: 25372577
Genetic alterations in sporadic and hereditary colorectal cancer: implementations for screening and follow-up.
Souglakos J
Dig Dis 2007;25(1):9-19. doi: 10.1159/000099166. PMID: 17384504

Clinical prediction guides

Isolated intestinal Ganglioneuromatosis: case report and literature review.
Mauro A, Zenzeri L, Esposito F, Gaglione G, Strisciuglio C, Pilozzi E, Corleto VD, Ziparo C, Di Nardo G
Ital J Pediatr 2021 Mar 30;47(1):80. doi: 10.1186/s13052-021-01024-5. PMID: 33785023Free PMC Article
Impact of gastrointestinal symptoms on quality of life in MEN2.
Goncharova M, Grey J, Druce M
Clin Endocrinol (Oxf) 2021 Apr;94(4):606-615. Epub 2020 Dec 14 doi: 10.1111/cen.14366. PMID: 33171530
Patient quality of life and prognosis in multiple endocrine neoplasia type 2.
Grey J, Winter K
Endocr Relat Cancer 2018 Feb;25(2):T69-T77. Epub 2017 Oct 24 doi: 10.1530/ERC-17-0335. PMID: 29066504
Pediatric intestinal motility disorders.
Gfroerer S, Rolle U
World J Gastroenterol 2015 Sep 7;21(33):9683-7. doi: 10.3748/wjg.v21.i33.9683. PMID: 26361414Free PMC Article
RET proto-oncogene mutations in multiple endocrine neoplasia type 2 and medullary thyroid carcinoma.
Marsh DJ, Mulligan LM, Eng C
Horm Res 1997;47(4-6):168-78. doi: 10.1159/000185461. PMID: 9167949

Recent systematic reviews

Identification of intestinal ganglioneuromatosis leads to early diagnosis of MEN2B: role of rectal biopsy.
Gfroerer S, Theilen TM, Fiegel H, Harter PN, Mittelbronn M, Rolle U
J Pediatr Surg 2017 Jul;52(7):1161-1165. Epub 2016 Nov 17 doi: 10.1016/j.jpedsurg.2016.10.054. PMID: 27899172

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