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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

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
Dhooge M, Saurin JC
Dig Liver Dis 2021 Apr;53(4):418-419. Epub 2021 Mar 3 doi: 10.1016/j.dld.2021.02.002. PMID: 33674216
Levin B, Barthel JS, Burt RW, David DS, Ford JM, Giardiello FM, Gruber SB, Halverson AL, Hamilton S, Kohlmann W, Ludwig KA, Lynch PM, Marino C, Martin EW Jr, Mayer RJ, Pasche B, Pirruccello SJ, Rajput A, Rao MS, Shike M, Steinbach G, Terdiman JP, Weinberg D, Winawer SJ
J Natl Compr Canc Netw 2006 Apr;4(4):384-420. doi: 10.6004/jnccn.2006.0033. PMID: 16569391

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

Urso EDL, Ponz de Leon M, Vitellaro M, Piozzi GN, Bao QR, Martayan A, Remo A, Stigliano V, Oliani C, Lucci Cordisco E, Pucciarelli S, Ranzani GN, Viel A; AIFEG group
Dig Liver Dis 2021 Apr;53(4):409-417. Epub 2021 Jan 25 doi: 10.1016/j.dld.2020.11.018. PMID: 33504457
van der Post RS, Carneiro F
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Gastroenterology 2009 Dec;137(6):1976-85.e1-10. Epub 2009 Sep 2 doi: 10.1053/j.gastro.2009.08.052. PMID: 19732775
Fitzsimmons ML
Semin Oncol Nurs 1992 Nov;8(4):252-7. doi: 10.1016/0749-2081(92)90037-4. PMID: 1336211

Diagnosis

Ho JL, Vu C, Liang R, Ding C
Gut 2022 Apr;71(4):675-715. Epub 2020 Nov 2 doi: 10.1136/gutjnl-2020-322842. PMID: 33139270
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
de la Chapelle A
Nat Rev Cancer 2004 Oct;4(10):769-80. doi: 10.1038/nrc1453. PMID: 15510158
Aaltonen LA
Semin Cancer Biol 2000 Aug;10(4):289-98. doi: 10.1006/scbi.2000.0148. PMID: 10966851
Fitzsimmons ML
Semin Oncol Nurs 1992 Nov;8(4):252-7. doi: 10.1016/0749-2081(92)90037-4. PMID: 1336211

Therapy

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
George AT, Di Cocco P, Benedetti E, Boulay BR, Carroll RE
JPEN J Parenter Enteral Nutr 2021 May;45(4):839-843. Epub 2020 Sep 7 doi: 10.1002/jpen.2001. PMID: 32829492
Colwell JC, Gray M
J Wound Ostomy Continence Nurs 2001 Jul;28(4):184-9. doi: 10.1067/mjw.2001.116743. PMID: 11452254
Clapper ML, Chang WC, Meropol NJ
Curr Opin Oncol 2001 Jul;13(4):307-13. doi: 10.1097/00001622-200107000-00015. PMID: 11429490

Prognosis

Pittman ME, Brosens LA, Wood LD
Surg Pathol Clin 2016 Dec;9(4):705-715. Epub 2016 Oct 12 doi: 10.1016/j.path.2016.05.012. PMID: 27926368
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
Peiser J, Smith A, Bapat B, Stern H
Surg Oncol 1994 Aug;3(4):195-201. doi: 10.1016/0960-7404(94)90034-5. PMID: 7834110

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
Egan JB, Thompson PA, Vitanov MV, Bartik L, Jacobs ET, Haussler MR, Gerner EW, Jurutka PW
Mol Carcinog 2010 Apr;49(4):337-52. doi: 10.1002/mc.20603. PMID: 20043299Free 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
Burke CA, Bauer WM, Lashner B
Cleve Clin J Med 2003 Apr;70(4):346-50. doi: 10.3949/ccjm.70.4.346. PMID: 12701989
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

Mannucci A, Puzzono M, Goel A, Möslein G, Balafas S, Di Serio MS, Cavestro GM
Am J Gastroenterol 2024 Apr 1;119(4):617-624. Epub 2024 Jan 31 doi: 10.14309/ajg.0000000000002688. PMID: 38294150
Emile SH, Khan SM, Silva-Alvarenga E, Garoufalia Z, Wexner SD
Tech Coloproctol 2022 Sep;26(9):691-705. Epub 2022 Mar 31 doi: 10.1007/s10151-022-02617-w. PMID: 35357610
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
Morada AO, Senapathi SH, Bashiri A, Chai S, Cagir B
Surg Endosc 2022 Mar;36(3):1750-1760. Epub 2022 Jan 7 doi: 10.1007/s00464-021-08847-7. PMID: 34997348
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

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.
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      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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