Familial Adenomatous Polyposis

Overview

Journal J Pediatr Genet

Publisher Thieme

Specialty Pediatrics

Date 2016 Sep 13

PMID 27617147

Citations 21

Authors

Alexia Waller

Sarah Findeis

Michael J Lee

Affiliations

Soon will be listed here.

Abstract

Familial adenomatous polyposis (FAP), caused by a germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5q21, is an autosomal dominant disorder characterized by hundreds to thousands of adenomas throughout the gastrointestinal tract. A variety of extraintestinal manifestations, including thyroid, soft tissue, and brain tumors, may also be present. These patients inevitably develop colorectal carcinoma by the fourth decade of life. In this review, the pathology, epidemiology, and genetic features of FAP are discussed.

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References

Wu T, Kornacki S, Rashid A, Yardley J, Hamilton S . Dysplasia and dysregulation of proliferation in foveolar and surface epithelia of fundic gland polyps from patients with familial adenomatous polyposis. Am J Surg Pathol. 1998; 22(3):293-8. DOI: 10.1097/00000478-199803000-00003. View

Ruhswurm I, Zehetmayer M, Dejaco C, Wolf B, Karner-Hanusch J . Ophthalmic and genetic screening in pedigrees with familial adenomatous polyposis. Am J Ophthalmol. 1998; 125(5):680-6. DOI: 10.1016/s0002-9394(98)00005-1. View

Arvanitis M, Jagelman D, Fazio V, Lavery I, McGannon E . Mortality in patients with familial adenomatous polyposis. Dis Colon Rectum. 1990; 33(8):639-42. DOI: 10.1007/BF02150736. View

Romania A, Zakov Z, McGannon E, Schroeder T, Heyen F, Jagelman D . Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Ophthalmology. 1989; 96(6):879-84. DOI: 10.1016/s0161-6420(89)32822-3. View

Bilkay U, Erdem O, Ozek C, Helvaci E, Kilic K, Ertan Y . Benign osteoma with Gardner syndrome: review of the literature and report of a case. J Craniofac Surg. 2004; 15(3):506-9. DOI: 10.1097/00001665-200405000-00032. View

GARDNER E, RICHARDS R . Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am J Hum Genet. 1953; 5(2):139-47. PMC: 1716470. View

Parsons M, Rennie I, Rundle P, Dhingra S, Mudhar H, Singh A . Congenital hypertrophy of retinal pigment epithelium: a clinico-pathological case report. Br J Ophthalmol. 2005; 89(7):920-1. PMC: 1772751. DOI: 10.1136/bjo.2004.061887. View

Lynch H, Smyrk T, Watson P, Lanspa S, Boman B, Lynch P . Hereditary colorectal cancer. Semin Oncol. 1991; 18(4):337-66. View

Attard T, Giglio P, Koppula S, Snyder C, Lynch H . Brain tumors in individuals with familial adenomatous polyposis: a cancer registry experience and pooled case report analysis. Cancer. 2007; 109(4):761-6. DOI: 10.1002/cncr.22475. View

10.

Clark S, Neale K, Landgrebe J, Phillips R . Desmoid tumours complicating familial adenomatous polyposis. Br J Surg. 1999; 86(9):1185-9. DOI: 10.1046/j.1365-2168.1999.01222.x. View

11.

Harach H, Williams G, Williams E . Familial adenomatous polyposis associated thyroid carcinoma: a distinct type of follicular cell neoplasm. Histopathology. 1994; 25(6):549-61. DOI: 10.1111/j.1365-2559.1994.tb01374.x. View

12.

Petersen G, Slack J, Nakamura Y . Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology. 1991; 100(6):1658-64. DOI: 10.1016/0016-5085(91)90666-9. View

13.

Perrier N, Van Heerden J, Goellner J, Williams E, Gharib H, Marchesa P . Thyroid cancer in patients with familial adenomatous polyposis. World J Surg. 1998; 22(7):738-42; discussion 743. DOI: 10.1007/s002689900462. View

14.

Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H . Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 1991; 66(3):589-600. DOI: 10.1016/0092-8674(81)90021-0. View

15.

Shih D, Northcott P, Remke M, Korshunov A, Ramaswamy V, Kool M . Cytogenetic prognostication within medulloblastoma subgroups. J Clin Oncol. 2014; 32(9):886-96. PMC: 3948094. DOI: 10.1200/JCO.2013.50.9539. View

16.

Leary S, Zhou T, Holmes E, Geyer J, Miller D . Histology predicts a favorable outcome in young children with desmoplastic medulloblastoma: a report from the children's oncology group. Cancer. 2011; 117(14):3262-7. PMC: 3119763. DOI: 10.1002/cncr.25856. View

17.

Cameselle-Teijeiro J, Chan J . Cribriform-morular variant of papillary carcinoma: a distinctive variant representing the sporadic counterpart of familial adenomatous polyposis-associated thyroid carcinoma?. Mod Pathol. 1999; 12(4):400-11. View

18.

Louis D, Ohgaki H, Wiestler O, Cavenee W, Burger P, Jouvet A . The 2007 WHO classification of tumours of the central nervous system. Acta Neuropathol. 2007; 114(2):97-109. PMC: 1929165. DOI: 10.1007/s00401-007-0243-4. View

19.

Iwama T, Mishima Y, Okamoto N, Inoue J . Association of congenital hypertrophy of the retinal pigment epithelium with familial adenomatous polyposis. Br J Surg. 1990; 77(3):273-6. DOI: 10.1002/bjs.1800770312. View

20.

Rex D, Johnson D, Anderson J, Schoenfeld P, Burke C, Inadomi J . American College of Gastroenterology guidelines for colorectal cancer screening 2009 [corrected]. Am J Gastroenterol. 2009; 104(3):739-50. DOI: 10.1038/ajg.2009.104. View