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Familial adenomatous polyposis 4(FAP4)

MedGen UID:
934686
Concept ID:
C4310719
Disease or Syndrome
Synonyms: FAP4; MSH3-related attenuated familial adenomatous polyposis
 
Gene (location): MSH3 (5q14.1)
 
Monarch Initiative: MONDO:0044300
OMIM®: 617100

Definition

Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by Adam et al., 2016). For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (175100). [from OMIM]

Clinical features

From HPO
Uterine leiomyoma
MedGen UID:
21801
Concept ID:
C0042133
Neoplastic Process
Uterine leiomyoma (UL), commonly known as fibroids, are benign tumors of the uterine myometrium. They represent the most prevalent pelvic tumors in women and are found in more than 75% of women of reproductive age. Approximately 20 to 25% of women with UL exhibit symptoms including menorrhagia, infertility, pelvic pain, and a range of complications during pregnancy. UL are the leading cause for hysterectomy in the United States, accounting for 30% of all hysterectomies (summary by Eggert et al., 2012).
Thyroid adenoma
MedGen UID:
56228
Concept ID:
C0151468
Neoplastic Process
The presence of a adenoma of the thyroid gland.
Ovarian cyst
MedGen UID:
14540
Concept ID:
C0029927
Disease or Syndrome
The presence of one or more cysts of the ovary.
Renal cyst
MedGen UID:
854361
Concept ID:
C3887499
Disease or Syndrome
A fluid filled sac in the kidney.
Gastric adenocarcinoma
MedGen UID:
82961
Concept ID:
C0278701
Neoplastic Process
An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia.
Duodenal polyposis
MedGen UID:
488924
Concept ID:
C0578477
Neoplastic Process
Presence of multiple polyps in the duodenum.
Adenomatous colonic polyposis
MedGen UID:
358118
Concept ID:
C1868071
Finding
Presence of multiple adenomatous polyps in the colon.
Astrocytoma
MedGen UID:
438
Concept ID:
C0004114
Neoplastic Process
Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.
Intraductal breast papilloma
MedGen UID:
65944
Concept ID:
C0238034
Neoplastic Process
Intraductal papilloma is a benign tumor found within breast ducts. The abnormal proliferation of ductal epithelial cells causes growth. A solitary intraductal papilloma is usually found centrally posterior to the nipple affecting the central duct. Multiple intraductal papillomas are located peripherally, found in any breast quadrant affecting the peripheral ducts.

Professional guidelines

PubMed

Castro R, Pimentel-Nunes P, Dinis-Ribeiro M
Best Pract Res Clin Gastroenterol 2017 Aug;31(4):381-387. Epub 2017 Jun 13 doi: 10.1016/j.bpg.2017.06.001. PMID: 28842047
Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, Wada K, Hosoi H, Yachida S, Suzuki M, Usui R, Furukawa T, Furuse J, Sato T, Ueno M, Kiyozumi Y, Hijioka S, Mizuno N, Terashima T, Mizumoto M, Kodama Y, Torishima M, Kawaguchi T, Ashida R, Kitano M, Hanada K, Furukawa M, Kawabe K, Majima Y, Shimosegawa T
World J Gastroenterol 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. PMID: 28246467Free PMC Article
Jasperson KW
Cancer J 2012 Jul-Aug;18(4):328-33. doi: 10.1097/PPO.0b013e3182609300. PMID: 22846733

Curated

UK NICE Clinical Guideline CG118, Colorectal cancer prevention: colonoscopic surveillance in adults with ulcerative colitis, Crohn's disease or adenomas, 2022

Recent clinical studies

Etiology

Stone JK, Mehta NA, Singh H, El-Matary W, Bernstein CN
Fam Cancer 2023 Oct;22(4):413-422. Epub 2023 Apr 29 doi: 10.1007/s10689-023-00334-3. PMID: 37119510
Soyer T
Pediatr Surg Int 2020 Apr;36(4):447-455. Epub 2020 Jan 21 doi: 10.1007/s00383-020-04621-3. PMID: 31965250
Sourrouille I, Lefèvre JH, Shields C, Colas C, Bellanger J, Desaint B, Paye F, Tiret E, Parc Y
Dis Colon Rectum 2017 Nov;60(11):1137-1146. doi: 10.1097/DCR.0000000000000903. PMID: 28991077
Half E, Bercovich D, Rozen P
Orphanet J Rare Dis 2009 Oct 12;4:22. doi: 10.1186/1750-1172-4-22. PMID: 19822006Free PMC Article
Vogt S, Jones N, Christian D, Engel C, Nielsen M, Kaufmann A, Steinke V, Vasen HF, Propping P, Sampson JR, Hes FJ, Aretz S
Gastroenterology 2009 Dec;137(6):1976-85.e1-10. Epub 2009 Sep 2 doi: 10.1053/j.gastro.2009.08.052. PMID: 19732775

Diagnosis

Sourrouille I, Lefèvre JH, Shields C, Colas C, Bellanger J, Desaint B, Paye F, Tiret E, Parc Y
Dis Colon Rectum 2017 Nov;60(11):1137-1146. doi: 10.1097/DCR.0000000000000903. PMID: 28991077
Trigui A, Frikha F, Rejab H, Ben Ameur H, Triki H, Ben Amar M, Mzali R
J Visc Surg 2014 Sep;151(4):281-8. Epub 2014 Jul 3 doi: 10.1016/j.jviscsurg.2014.05.004. PMID: 24999229
Gala M, Chung DC
Semin Oncol 2011 Aug;38(4):490-9. doi: 10.1053/j.seminoncol.2011.05.003. PMID: 21810508
Half E, Bercovich D, Rozen P
Orphanet J Rare Dis 2009 Oct 12;4:22. doi: 10.1186/1750-1172-4-22. PMID: 19822006Free PMC Article
Lal G, Gallinger S
Semin Surg Oncol 2000 Jun;18(4):314-23. doi: 10.1002/(sici)1098-2388(200006)18:4<314::aid-ssu6>3.0.co;2-9. PMID: 10805953

Therapy

Stone JK, Mehta NA, Singh H, El-Matary W, Bernstein CN
Fam Cancer 2023 Oct;22(4):413-422. Epub 2023 Apr 29 doi: 10.1007/s10689-023-00334-3. PMID: 37119510
Shaukat A, Lichtenstein DR, Somers SC, Chung DC, Perdue DG, Gopal M, Colucci DR, Phillips SA, Marka NA, Church TR, Brugge WR; SKOUT™ Registration Study Team
Gastroenterology 2022 Sep;163(3):732-741. Epub 2022 May 25 doi: 10.1053/j.gastro.2022.05.028. PMID: 35643173
Li Q, Hu W, Liu WX, Zhao LY, Huang D, Liu XD, Chan H, Zhang Y, Zeng JD, Coker OO, Kang W, Ng SSM, Zhang L, Wong SH, Gin T, Chan MTV, Wu JL, Yu J, Wu WKK
Gastroenterology 2021 Mar;160(4):1179-1193.e14. Epub 2020 Sep 11 doi: 10.1053/j.gastro.2020.09.003. PMID: 32920015
Matsubayashi H, Takaori K, Morizane C, Maguchi H, Mizuma M, Takahashi H, Wada K, Hosoi H, Yachida S, Suzuki M, Usui R, Furukawa T, Furuse J, Sato T, Ueno M, Kiyozumi Y, Hijioka S, Mizuno N, Terashima T, Mizumoto M, Kodama Y, Torishima M, Kawaguchi T, Ashida R, Kitano M, Hanada K, Furukawa M, Kawabe K, Majima Y, Shimosegawa T
World J Gastroenterol 2017 Feb 14;23(6):935-948. doi: 10.3748/wjg.v23.i6.935. PMID: 28246467Free PMC Article
Trigui A, Frikha F, Rejab H, Ben Ameur H, Triki H, Ben Amar M, Mzali R
J Visc Surg 2014 Sep;151(4):281-8. Epub 2014 Jul 3 doi: 10.1016/j.jviscsurg.2014.05.004. PMID: 24999229

Prognosis

Conteduca V, Sansonno D, Russi S, Dammacco F
Int J Oncol 2013 Oct;43(4):973-84. Epub 2013 Jul 29 doi: 10.3892/ijo.2013.2041. PMID: 23900573
Church J
Surg Oncol Clin N Am 2009 Oct;18(4):585-98. doi: 10.1016/j.soc.2009.07.002. PMID: 19793567
Vogt S, Jones N, Christian D, Engel C, Nielsen M, Kaufmann A, Steinke V, Vasen HF, Propping P, Sampson JR, Hes FJ, Aretz S
Gastroenterology 2009 Dec;137(6):1976-85.e1-10. Epub 2009 Sep 2 doi: 10.1053/j.gastro.2009.08.052. PMID: 19732775
Gill SS, Heuman DM, Mihas AA
J Clin Gastroenterol 2001 Oct;33(4):267-82. doi: 10.1097/00004836-200110000-00004. PMID: 11588539
Bülow S
Ann Med 1989 Aug;21(4):299-307. doi: 10.3109/07853898909149211. PMID: 2551351

Clinical prediction guides

Sourrouille I, Lefèvre JH, Shields C, Colas C, Bellanger J, Desaint B, Paye F, Tiret E, Parc Y
Dis Colon Rectum 2017 Nov;60(11):1137-1146. doi: 10.1097/DCR.0000000000000903. PMID: 28991077
Conteduca V, Sansonno D, Russi S, Dammacco F
Int J Oncol 2013 Oct;43(4):973-84. Epub 2013 Jul 29 doi: 10.3892/ijo.2013.2041. PMID: 23900573
Vogt S, Jones N, Christian D, Engel C, Nielsen M, Kaufmann A, Steinke V, Vasen HF, Propping P, Sampson JR, Hes FJ, Aretz S
Gastroenterology 2009 Dec;137(6):1976-85.e1-10. Epub 2009 Sep 2 doi: 10.1053/j.gastro.2009.08.052. PMID: 19732775
Wijn MA, Keller JJ, Giardiello FM, Brand HS
Oral Dis 2007 Jul;13(4):360-5. doi: 10.1111/j.1601-0825.2006.01293.x. PMID: 17577321
Lal G, Gallinger S
Semin Surg Oncol 2000 Jun;18(4):314-23. doi: 10.1002/(sici)1098-2388(200006)18:4<314::aid-ssu6>3.0.co;2-9. PMID: 10805953

Recent systematic reviews

Aelvoet AS, Struik D, Bastiaansen BAJ, Bemelman WA, Hompes R, Bossuyt PMM, Dekker E
Fam Cancer 2022 Oct;21(4):429-439. Epub 2022 Jan 13 doi: 10.1007/s10689-022-00288-y. PMID: 35022961Free PMC Article
Sriranganathan D, Kilic Y, Nabil Quraishi M, Segal JP
Colorectal Dis 2022 Jan;24(1):27-39. Epub 2021 Dec 3 doi: 10.1111/codi.15995. PMID: 34800326
Cantalejo-Díaz M, Ramia-Ángel JM, Palomares-Cano A, Serradilla-Martín M
Dig Surg 2021;38(3):186-197. Epub 2021 May 17 doi: 10.1159/000515718. PMID: 34000717
Sandoval JA, Fernandez-Pineda I, Malkan AD
J Pediatr Surg 2016 Apr;51(4):675-87. Epub 2016 Feb 3 doi: 10.1016/j.jpedsurg.2016.01.004. PMID: 26898681
Parc Y, Mabrut JY, Shields C; Mallorca Group
Br J Surg 2011 Apr;98(4):480-4. Epub 2011 Jan 6 doi: 10.1002/bjs.7374. PMID: 21656714

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.

    Curated

    • NICE, 2022
      UK NICE Clinical Guideline CG118, Colorectal cancer prevention: colonoscopic surveillance in adults with ulcerative colitis, Crohn's disease or adenomas, 2022

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