Familial adenomatous polyposis View Full Text


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Article Info

DATE

2009-10-12

AUTHORS

Elizabeth Half, Dani Bercovich, Paul Rozen

ABSTRACT

Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC) cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rectal bleeding or even anemia, or cancer develops. Generally, cancers start to develop a decade after the appearance of the polyps. Nonspecific symptoms may include constipation or diarrhea, abdominal pain, palpable abdominal masses and weight loss. FAP may present with some extraintestinal manifestations such as osteomas, dental abnormalities (unerupted teeth, congenital absence of one or more teeth, supernumerary teeth, dentigerous cysts and odontomas), congenital hypertrophy of the retinal pigment epithelium (CHRPE), desmoid tumors, and extracolonic cancers (thyroid, liver, bile ducts and central nervous system). A less aggressive variant of FAP, attenuated FAP (AFAP), is characterized by fewer colorectal adenomatous polyps (usually 10 to 100), later age of adenoma appearance and a lower cancer risk. Some lesions (skull and mandible osteomas, dental abnormalities, and fibromas on the scalp, shoulders, arms and back) are indicative of the Gardner variant of FAP. Classic FAP is inherited in an autosomal dominant manner and results from a germline mutation in the adenomatous polyposis (APC) gene. Most patients (~70%) have a family history of colorectal polyps and cancer. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition, MUTYH-associated polyposis (MAP), which is characterized by a slightly increased risk of developing CRC and polyps/adenomas in both the upper and lower gastrointestinal tract. Diagnosis is based on a suggestive family history, clinical findings, and large bowel endoscopy or full colonoscopy. Whenever possible, the clinical diagnosis should be confirmed by genetic testing. When the APC mutation in the family has been identified, genetic testing of all first-degree relatives should be performed. Presymptomatic and prenatal (amniocentesis and chorionic villous sampling), and even preimplantation genetic testing is possible. Referral to a geneticist or genetic counselor is mandatory. Differential diagnoses include other disorders causing multiple polyps (such as Peutz-Jeghers syndrome, familial juvenile polyps or hyperplastic polyposis, hereditary mixed polyposis syndromes, and Lynch syndrome). Cancer prevention and maintaining a good quality of life are the main goals of management and regular and systematic follow-up and supportive care should be offered to all patients. By the late teens or early twenties, colorectal cancer prophylactic surgery is advocated. The recommended alternatives are total proctocolectomy and ileoanal pouch or ileorectal anastomosis for AFAP. Duodenal cancer and desmoids are the two main causes of mortality after total colectomy, they need to be identified early and treated. Upper endoscopy is necessary for surveillance to reduce the risk of ampullary and duodenal cancer. Patients with progressive tumors and unresectable disease may respond or stabilize with a combination of cytotoxic chemotherapy and surgery (when possible to perform). Adjunctive therapy with celecoxib has been approved by the US Food and Drug Administration and the European Medicines Agency in patients with FAP. Individuals with FAP carry a 100% risk of CRC; however, this risk is reduced significantly when patients enter a screening-treatment program. More... »

PAGES

22-22

References to SciGraph publications

  • 2006-09. Restorative proctocolectomy and ileal pouch-anal anastomosis for familial adenomatous polyposis revisited in FAMILIAL CANCER
  • 2007-11-13. Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management in FAMILIAL CANCER
  • 2003-04. Attenuated familial adenomatous polyposis (AFAP): a review of the literature in FAMILIAL CANCER
  • 1994-11. Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis in HUMAN GENETICS
  • 2008-07-09. Extra-Intestinal Manifestations of Familial Adenomatous Polyposis in ANNALS OF SURGICAL ONCOLOGY
  • 2002-01-30. Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors in NATURE GENETICS
  • 2006-11. Impact of familial adenomatous polyposis on young adults: Attitudes toward genetic testing, support, and information needs in GENETICS IN MEDICINE
  • 2001-04. Familial adenomatous polyposis at the Tel Aviv Medical Center: demographic and clinical features in FAMILIAL CANCER
  • 1992-09. APC mutations occur early during colorectal tumorigenesis in NATURE
  • 2004-07-26. Genetic alterations of the MYH gene in gastric cancer in ONCOGENE
  • 2005-07-01. The Utility of Capsule Endoscopy Small Bowel Surveillance in Patients with Polyposis in THE AMERICAN JOURNAL OF GASTROENTEROLOGY
  • 2007-03-13. Attitudes Toward Prenatal Genetic Testing in Patients With Familial Adenomatous Polyposis in THE AMERICAN JOURNAL OF GASTROENTEROLOGY
  • 2006-09. Current ideas in desmoid tumours in FAMILIAL CANCER
  • 2003-10. Rofecoxib Reduces Polyp Recurrence in Familial Polyposis in DIGESTIVE DISEASES AND SCIENCES
  • 2006-09. Familial adenomatous polyposis: the practical applications of clinical and molecular screening in FAMILIAL CANCER
  • 2006-09. The history of familial adenomatous polyposis in FAMILIAL CANCER
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/1750-1172-4-22

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    28 schema:description Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC) cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rectal bleeding or even anemia, or cancer develops. Generally, cancers start to develop a decade after the appearance of the polyps. Nonspecific symptoms may include constipation or diarrhea, abdominal pain, palpable abdominal masses and weight loss. FAP may present with some extraintestinal manifestations such as osteomas, dental abnormalities (unerupted teeth, congenital absence of one or more teeth, supernumerary teeth, dentigerous cysts and odontomas), congenital hypertrophy of the retinal pigment epithelium (CHRPE), desmoid tumors, and extracolonic cancers (thyroid, liver, bile ducts and central nervous system). A less aggressive variant of FAP, attenuated FAP (AFAP), is characterized by fewer colorectal adenomatous polyps (usually 10 to 100), later age of adenoma appearance and a lower cancer risk. Some lesions (skull and mandible osteomas, dental abnormalities, and fibromas on the scalp, shoulders, arms and back) are indicative of the Gardner variant of FAP. Classic FAP is inherited in an autosomal dominant manner and results from a germline mutation in the adenomatous polyposis (APC) gene. Most patients (~70%) have a family history of colorectal polyps and cancer. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition, MUTYH-associated polyposis (MAP), which is characterized by a slightly increased risk of developing CRC and polyps/adenomas in both the upper and lower gastrointestinal tract. Diagnosis is based on a suggestive family history, clinical findings, and large bowel endoscopy or full colonoscopy. Whenever possible, the clinical diagnosis should be confirmed by genetic testing. When the APC mutation in the family has been identified, genetic testing of all first-degree relatives should be performed. Presymptomatic and prenatal (amniocentesis and chorionic villous sampling), and even preimplantation genetic testing is possible. Referral to a geneticist or genetic counselor is mandatory. Differential diagnoses include other disorders causing multiple polyps (such as Peutz-Jeghers syndrome, familial juvenile polyps or hyperplastic polyposis, hereditary mixed polyposis syndromes, and Lynch syndrome). Cancer prevention and maintaining a good quality of life are the main goals of management and regular and systematic follow-up and supportive care should be offered to all patients. By the late teens or early twenties, colorectal cancer prophylactic surgery is advocated. The recommended alternatives are total proctocolectomy and ileoanal pouch or ileorectal anastomosis for AFAP. Duodenal cancer and desmoids are the two main causes of mortality after total colectomy, they need to be identified early and treated. Upper endoscopy is necessary for surveillance to reduce the risk of ampullary and duodenal cancer. Patients with progressive tumors and unresectable disease may respond or stabilize with a combination of cytotoxic chemotherapy and surgery (when possible to perform). Adjunctive therapy with celecoxib has been approved by the US Food and Drug Administration and the European Medicines Agency in patients with FAP. Individuals with FAP carry a 100% risk of CRC; however, this risk is reduced significantly when patients enter a screening-treatment program.
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    40 European Union
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    71 cancer prophylactic surgery
    72 cancer risk
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    76 celecoxib
    77 chemotherapy
    78 classic familial adenomatous polyposis
    79 clinical diagnosis
    80 clinical findings
    81 colectomy
    82 colon
    83 colonoscopy
    84 colorectal adenomatous polyps
    85 colorectal cancer cases
    86 colorectal cancer prophylactic surgery
    87 colorectal polyps
    88 combination
    89 conditions
    90 congenital hypertrophy
    91 constipation
    92 counselors
    93 cytotoxic chemotherapy
    94 decades
    95 dental abnormalities
    96 desmoid tumors
    97 desmoids
    98 development
    99 diagnosis
    100 diarrhea
    101 differential diagnosis
    102 disease
    103 disorders
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    105 duodenal cancer
    106 early twenties
    107 endoscopy
    108 epithelium
    109 extracolonic cancers
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    111 familial adenomatous polyposis
    112 family
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    115 first-degree relatives
    116 food
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    118 gastrointestinal tract
    119 genes
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    124 goal
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    126 history
    127 hypertrophy
    128 ileorectal anastomosis
    129 incidence
    130 individuals
    131 large bowel endoscopy
    132 late teens
    133 lesions
    134 life
    135 loss
    136 lower cancer risk
    137 lower gastrointestinal tract
    138 main cause
    139 main goal
    140 management
    141 manifestations
    142 manner
    143 mass
    144 mortality
    145 most patients
    146 multiple polyps
    147 mutations
    148 nonspecific symptoms
    149 pain
    150 palpable abdominal mass
    151 patients
    152 pigment epithelium
    153 polyposis
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    155 polyposis gene
    156 polyps
    157 polyps/
    158 preimplantation genetic testing
    159 prevalence
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    162 program
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    171 retinal pigment epithelium
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    186 testing
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    188 thousands
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    192 tract
    193 tumors
    194 twenties
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    196 upper endoscopy
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    198 weight loss
    199 years
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