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Colorectal Perineurioma

MedGen UID:
474469
•Concept ID:
C3272836
•
Neoplastic Process
Synonym: Colorectal Fibroblastic Polyp

Definition

A perineurioma that arises from the colon or rectum. It usually presents as a small sessile polyp. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVColorectal Perineurioma

Professional guidelines

PubMed

Neurofibromatosis type 1: A comparison of the 1997 NIH and the 2021 revised diagnostic criteria in 75 children and adolescents.
Angelova-Toshkina D, Holzapfel J, Huber S, Schimmel M, Wieczorek D, Gnekow AK, Frühwald MC, Kuhlen M
Genet Med 2022 Sep;24(9):1978-1985. Epub 2022 Jun 17 doi: 10.1016/j.gim.2022.05.013. PMID: 35713653
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.
Kehrer-Sawatzki H, Cooper DN
Hum Genet 2022 Feb;141(2):177-191. Epub 2021 Dec 20 doi: 10.1007/s00439-021-02410-z. PMID: 34928431Free PMC Article
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.
Suerink M, Ripperger T, Messiaen L, Menko FH, Bourdeaut F, Colas C, Jongmans M, Goldberg Y, Nielsen M, Muleris M, van Kouwen M, Slavc I, Kratz C, Vasen HF, Brugiѐres L, Legius E, Wimmer K
J Med Genet 2019 Feb;56(2):53-62. Epub 2018 Nov 10 doi: 10.1136/jmedgenet-2018-105664. PMID: 30415209

Recent clinical studies

Etiology

Epithelial-Stromal Polyps of the Colon Are Not Perineuriomas.
Hissong E, Yantiss RK
Am J Clin Pathol 2021 Jun 17;156(1):109-116. doi: 10.1093/ajcp/aqaa210. PMID: 33313671
Genodermatoses with malignant potential.
Ladd R, Davis M, Dyer JA
Clin Dermatol 2020 Jul-Aug;38(4):432-454. Epub 2020 Mar 30 doi: 10.1016/j.clindermatol.2020.03.007. PMID: 32972602
Constipation in adults with neurofibromatosis type 1.
Ejerskov C, Krogh K, Ostergaard JR, Fassov JL, Haagerup A
Orphanet J Rare Dis 2017 Aug 16;12(1):139. doi: 10.1186/s13023-017-0691-4. PMID: 28814319Free PMC Article
Epidemiological evidence relating snus to health--an updated review based on recent publications.
Lee PN
Harm Reduct J 2013 Dec 6;10:36. doi: 10.1186/1477-7517-10-36. PMID: 24314326Free PMC Article
Lessons from the skin--cutaneous features of familial cancer.
Winship IM, Dudding TE
Lancet Oncol 2008 May;9(5):462-72. doi: 10.1016/S1470-2045(08)70126-8. PMID: 18452857

Diagnosis

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.
Kehrer-Sawatzki H, Cooper DN
Hum Genet 2022 Feb;141(2):177-191. Epub 2021 Dec 20 doi: 10.1007/s00439-021-02410-z. PMID: 34928431Free PMC Article
Genodermatoses with malignant potential.
Ladd R, Davis M, Dyer JA
Clin Dermatol 2020 Jul-Aug;38(4):432-454. Epub 2020 Mar 30 doi: 10.1016/j.clindermatol.2020.03.007. PMID: 32972602
Schwannoma of the colon and rectum: a systematic literature review.
Bohlok A, El Khoury M, Bormans A, Galdon MG, Vouche M, El Nakadi I, Donckier V, Liberale G
World J Surg Oncol 2018 Jul 3;16(1):125. doi: 10.1186/s12957-018-1427-1. PMID: 29970075Free PMC Article
Tumours with class 3 BRAF mutants are sensitive to the inhibition of activated RAS.
Yao Z, Yaeger R, Rodrik-Outmezguine VS, Tao A, Torres NM, Chang MT, Drosten M, Zhao H, Cecchi F, Hembrough T, Michels J, Baumert H, Miles L, Campbell NM, de Stanchina E, Solit DB, Barbacid M, Taylor BS, Rosen N
Nature 2017 Aug 10;548(7666):234-238. Epub 2017 Aug 2 doi: 10.1038/nature23291. PMID: 28783719Free PMC Article
Genetics of the hamartomatous polyposis syndromes: a molecular review.
Chen HM, Fang JY
Int J Colorectal Dis 2009 Aug;24(8):865-74. Epub 2009 Apr 21 doi: 10.1007/s00384-009-0714-2. PMID: 19381654

Therapy

Anal Squamous Cell Carcinoma in Ulcerative Colitis: Can Pouches Withstand Traditional Treatment Protocols?
Lightner AL, Vaidya P, McMichael J, Click B, Regueiro M, Steele SR, Hull TL
Dis Colon Rectum 2021 Sep 1;64(9):1106-1111. doi: 10.1097/DCR.0000000000002011. PMID: 33951686
Epidemiological evidence relating snus to health--an updated review based on recent publications.
Lee PN
Harm Reduct J 2013 Dec 6;10:36. doi: 10.1186/1477-7517-10-36. PMID: 24314326Free PMC Article
Tyrosine kinase expression in pulmonary metastases and paired primary tumors.
Muehling BM, Toelkes S, Schelzig H, Barth TF, Sunder-Plassmann L
Interact Cardiovasc Thorac Surg 2010 Feb;10(2):228-31. Epub 2009 Nov 30 doi: 10.1510/icvts.2009.218263. PMID: 19948538
The posterior approach for low retrorectal tumors in adults.
Buchs N, Taylor S, Roche B
Int J Colorectal Dis 2007 Apr;22(4):381-5. Epub 2006 Aug 15 doi: 10.1007/s00384-006-0183-9. PMID: 16909248
Use of saline-filled tissue expanders to protect the small bowel from radiation.
Hoffman JP, Sigurdson ER, Eisenberg BL
Oncology (Williston Park) 1998 Jan;12(1):51-4; discussion 54, 60, 62, passim. PMID: 9474587

Prognosis

What About Gastric Schwannoma? A Review Article.
Lauricella S, Valeri S, Mascianà G, Gallo IF, Mazzotta E, Pagnoni C, Costanza S, Falcone L, Benvenuto D, Caricato M, Capolupo GT
J Gastrointest Cancer 2021 Mar;52(1):57-67. doi: 10.1007/s12029-020-00456-2. PMID: 32964322
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.
Suerink M, Ripperger T, Messiaen L, Menko FH, Bourdeaut F, Colas C, Jongmans M, Goldberg Y, Nielsen M, Muleris M, van Kouwen M, Slavc I, Kratz C, Vasen HF, Brugiѐres L, Legius E, Wimmer K
J Med Genet 2019 Feb;56(2):53-62. Epub 2018 Nov 10 doi: 10.1136/jmedgenet-2018-105664. PMID: 30415209
Schwannoma of the colon and rectum: a systematic literature review.
Bohlok A, El Khoury M, Bormans A, Galdon MG, Vouche M, El Nakadi I, Donckier V, Liberale G
World J Surg Oncol 2018 Jul 3;16(1):125. doi: 10.1186/s12957-018-1427-1. PMID: 29970075Free PMC Article
Intestinal obstruction in von Recklinghausen's disease.
Trilling B, Faucheron JL
Colorectal Dis 2014 Oct;16(10):762-8. doi: 10.1111/codi.12649. PMID: 24766607
Genetics of the hamartomatous polyposis syndromes: a molecular review.
Chen HM, Fang JY
Int J Colorectal Dis 2009 Aug;24(8):865-74. Epub 2009 Apr 21 doi: 10.1007/s00384-009-0714-2. PMID: 19381654

Clinical prediction guides

A systems mechanism for KRAS mutant allele-specific responses to targeted therapy.
McFall T, Diedrich JK, Mengistu M, Littlechild SL, Paskvan KV, Sisk-Hackworth L, Moresco JJ, Shaw AS, Stites EC
Sci Signal 2019 Sep 24;12(600) doi: 10.1126/scisignal.aaw8288. PMID: 31551296Free PMC Article
Cellular prion protein (PrP(C)) in the development of Merlin-deficient tumours.
Provenzano L, Ryan Y, Hilton DA, Lyons-Rimmer J, Dave F, Maze EA, Adams CL, Rigby-Jones R, Ammoun S, Hanemann CO
Oncogene 2017 Nov 2;36(44):6132-6142. Epub 2017 Jul 10 doi: 10.1038/onc.2017.200. PMID: 28692055
CT Features of Colorectal Schwannomas: Differentiation from Gastrointestinal Stromal Tumors.
Kang JH, Kim SH, Kim YH, Rha SE, Hur BY, Han JK
PLoS One 2016;11(12):e0166377. Epub 2016 Dec 22 doi: 10.1371/journal.pone.0166377. PMID: 28005903Free PMC Article
Clinical significance of perineural invasion in stages II and III colorectal cancer.
Zhou Y, Wang H, Gong H, Cao M, Zhang G, Wang Y
Pathol Res Pract 2015 Nov;211(11):839-44. Epub 2015 Sep 4 doi: 10.1016/j.prp.2015.09.001. PMID: 26429129
Genetic insights into familial cancers-- update and recent discoveries.
Marsh D, Zori R
Cancer Lett 2002 Jul 26;181(2):125-64. doi: 10.1016/s0304-3835(02)00023-x. PMID: 12175530

Recent systematic reviews

Mismatch repair deficiency is rare in bone and soft tissue tumors.
Lam SW, Kostine M, de Miranda NFCC, Schöffski P, Lee CJ, Morreau H, Bovée JVMG
Histopathology 2021 Oct;79(4):509-520. Epub 2021 Jun 8 doi: 10.1111/his.14377. PMID: 33825202Free PMC Article
What About Gastric Schwannoma? A Review Article.
Lauricella S, Valeri S, Mascianà G, Gallo IF, Mazzotta E, Pagnoni C, Costanza S, Falcone L, Benvenuto D, Caricato M, Capolupo GT
J Gastrointest Cancer 2021 Mar;52(1):57-67. doi: 10.1007/s12029-020-00456-2. PMID: 32964322
Intestinal obstruction in von Recklinghausen's disease.
Trilling B, Faucheron JL
Colorectal Dis 2014 Oct;16(10):762-8. doi: 10.1111/codi.12649. PMID: 24766607

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