Neoplastic lesions of Gastrointestinal Tract
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Questions and Answers

What genetic defect is associated with Familial Polyposis Syndrome (FPS)?

  • Mutation in the KRAS gene
  • Mutation in the APC gene (correct)
  • Mutation in the BRAF gene
  • Mutation in the TP53 gene

    • Which syndrome is characterized by tubular adenomas with multiple osteomas, desmoid tumors, and epidermal cysts?

  • Turcot Syndrome
  • Gardner Syndrome (correct)
  • Lynch Syndrome
  • Peutz-Jeghers Syndrome

    • What happens when the second allele of the APC gene is somatically mutated or lost by LOH in Familial Polyposis Syndrome (FPS)?

  • The APC gene becomes overexpressed
  • The cells undergo apoptosis
  • Loss of APC function confers a growth advantage over neighboring cells (correct)
  • The neighboring cells become hyperactive

    • Which gene is associated with the genetic defect in Familial Polyposis Syndrome (FPS)?

    <p>APC gene</p> Signup and view all the answers

    What confers a growth advantage over neighboring cells in Familial Polyposis Syndrome (FPS)?

    <p>Loss of APC function</p> Signup and view all the answers

    What is the most common symptom of right-sided colon carcinoma?

    <p>Fatigue and iron deficiency anemia.</p> Signup and view all the answers

    Which gene mutations are associated with the chromosomal instability pathway in colon cancer?

    <p>APC gene mutations</p> Signup and view all the answers

    What is the characteristic feature of juvenile polyps?

    <p>Common in children &lt; 5 years of age</p> Signup and view all the answers

    What is the characteristic feature of Peutz-Jeghers polyp?

    <p>Melanotic pigmentation in mucocutaneous areas</p> Signup and view all the answers

    Which type of colon cancer arises from defects in DNA mismatch repair genes?

    <p>Hereditary non polyposis colorectal cancer (HNPCC)</p> Signup and view all the answers

    Which pathway accounts for 85-90% of colon cancer cases?

    <p>Chromosomal instability pathway</p> Signup and view all the answers

    Which type of polyp is characterized by melanotic pigmentation in mucocutaneous areas, lips, and perioral region?

    <p>Peutz-Jeghers polyp</p> Signup and view all the answers

    Which type of colon cancer arises from defects in DNA mismatch repair genes?

    <p>MSI pathway colon cancer</p> Signup and view all the answers

    Which syndrome is characterized by adenomas and CNS gliomas?

    <p>Turcot Syndrome</p> Signup and view all the answers

    What is the precursor lesion of carcinoma in the gastrointestinal tract?

    <p>Adenomas</p> Signup and view all the answers

    Which genetic defect is associated with Hereditary Non-Polyposis Colorectal Cancer (HNPCC)?

    <p>Defective DNA repair genes, MLH1 gene</p> Signup and view all the answers

    Study Notes

    Familial Polyposis Syndrome (FPS)

    • Associated with a genetic defect in the APC gene
    • Characterized by tubular adenomas with multiple osteomas, desmoid tumors, and epidermal cysts
    • When the second allele of the APC gene is somatically mutated or lost by LOH, it leads to FPS

    Genetic Defects and Colon Cancer

    • The APC gene is associated with the genetic defect in FPS
    • Mutations in the APC gene confer a growth advantage over neighboring cells in FPS
    • Gene mutations associated with the chromosomal instability pathway in colon cancer include APC, beta-catenin, and others
    • Defects in DNA mismatch repair genes lead to Lynch syndrome, a type of colon cancer
    • The chromosomal instability pathway accounts for 85-90% of colon cancer cases

    Characteristics of Polyps

    • Juvenile polyps are characterized by a mixture of epithelial and stromal elements
    • Peutz-Jeghers polyps are characterized by a treelike pattern of smooth muscle and a mixture of epithelial and stromal elements
    • Polyps with melanotic pigmentation in mucocutaneous areas, lips, and perioral region are characteristic of Peutz-Jeghers syndrome

    Syndromes and Colon Cancer

    • Turcot syndrome is characterized by adenomas and CNS gliomas
    • Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is associated with a genetic defect in DNA mismatch repair genes

    Precursor Lesions and Symptoms

    • Adenomas are the precursor lesions of carcinoma in the gastrointestinal tract
    • The most common symptom of right-sided colon carcinoma is anemia

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    Description

    Test your knowledge of Familial Polyposis Syndromes and their associated genetic defects with this informative quiz. Explore the key characteristics and manifestations of FAP, Gardner Syndrome, and Turcot Syndrome, and enhance your understanding of the genetic basis of these conditions.

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