U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
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
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
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
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
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
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
Diffuse ganglioneuromatosis in small intestine associated with neurofibromatosis type 1.
Thway K, Fisher C
Ann Diagn Pathol 2009 Feb;13(1):50-4. Epub 2007 Oct 24 doi: 10.1016/j.anndiagpath.2007.06.001. PMID: 19118783
Multiple endocrine neoplasia type 2B--genetic basis and clinical expression.
Lee NC, Norton JA
Surg Oncol 2000 Nov;9(3):111-8. doi: 10.1016/s0960-7404(00)00038-4. PMID: 11356339

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
Diffuse Intestinal Ganglioneuromatosis Showing Multiple Large Bowel Ulcers in a Patient with Neurofibromatosis Type 1.
Iwamuro M, Omote R, Tanaka T, Sunada N, Nada T, Kondo Y, Nose S, Kawaguchi M, Otsuka F, Okada H
Intern Med 2017 Dec 15;56(24):3287-3291. Epub 2017 Oct 11 doi: 10.2169/internalmedicine.8671-16. PMID: 29021449Free PMC Article
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

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

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.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...