Familial adenomatous polyposis APC

Familial adenomatous polyposis  (FAP)

Updated: 03/02/2021

© Jun Wang, MD, PhD

General features
  • Autosomal dominant 
  • Mutation of adenomatous polyposis coli (APC) gene
  • Polyps start growing in teenagers
  • 100% progress to colonic adenocarcinoma, often in teens, most by thirties
  • Higher risk for carcinoma of thyroid, gallbladder, adrenal glands
  • May have desmoid tumors (Gardner syndrome)
Clinical presentations
Pathological features
Genetic abnormalities
Pathogenesis
  • APC mutation associated beta-catenin translocation to nuclei, activating transcriptions
Diagnosis
  • Suspicious presentations
    • Cumulative 10 or more colorectal adenomas
    •  Colorectal adenoma with extracolic features of FAP
  • Genetic testing for APC or MYH


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Contents

Pathology notes Jun Wang, MD, PhD 1. General information Frequently discussed syndromes Terms of dermatology Terms of hematology 2. Primary immunodeficiency disorders 3. Hemodynamic abnormalities Shock Thrombosis and embolism Bleeding disorders 4.  Benign blood cell disorders Anemia Benign white cell disorders 5. Hematopoietic neoplasms Lymphoid neoplasms Myeloid neoplasms Histiocytic neoplasms: Langerhans cell histiocytosis 6. Cardiovascular system Pulmonary hypertension Cardiovascular system tumors 7. Respiratory tract tumors 8. Gastrointestinal tract Congenital disorders Infectious gastroenteritis Oral cavity Esophagus Stomach Intestinal tumors Salivary glands Exocrine pancreas and gallbladder 9. Urinary system Kidney masses Lower urinary tract 10. Male reproductive system 11. Female genital tract 12. Breast 13. Endocrine organs Pituitary gland Adrenal gland Thyroid gland Parathyroid gland Endocrine pancreas...
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Anemia

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Lymphoid neoplasms

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