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What is Peutz-Jegher’s Syndrome?
- Hamartomatous polyps (usually <100) throughout the GIT, most common in jejunumQ
- Associated with hypermelanotic macule in the perioral region, buccal mucosaQ.
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Features of pigment spots in PJS?
- Pigment spots usually appear in first few years of life, reach a maximum level in early adolescence and can fade in adulthoodQ. However, pigmentation on the buccal mucosa remains throughout the lifeQ.
- The pigmented macules of PJS have no malignant potentialQ.
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Histological features of PJS?
- Smooth muscle extends into the superficial epithelial layer in a tree like manner known as arborizationQ.
- Pseudoinvasion (epithelial cell trapping)Q is noted in upto 10% of polyps >3 cm.
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Extra-intestinal Features of PJS?
- Increased risk for extra-intestinal cancer of the pancreas, thyroid, breast (may be bilateral), lung, gall bladder, biliary tract (cholangiocarcinoma)Q.
- Increased risk of gynecologic malignancies
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What is Familial Adenomatous Polyposis (AD)?
- Autosomal dominantQ inherited syndrome
- Development of >100 adenomatous polypsQ.
- Chromosome 5q21
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Earliest phenotypic change in FAP?
- Aberrant crypt formationQ, average age of adenoma development - 15 yearsQ
- If left untreated, colorectal cancer develops in nearly 100%Q of these patients by age 40 yearsQ.
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After Colorectal cancer, which is MC malignancy diagnosed in patients with FAP?
Periampullary adenocarcinoma of duodenumQ
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Most common method used to screen for APC mutations?
APC gene testing by protein truncation testQ
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Treatment of FAP?
- Prophylactic proctocolectomy
- Total proctocolectomy with ileal pouch–anal anastomosis (IPAA)Q.
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What is Spigelman’s Criteria?
Spigelman’s criteria predict the malignant risk of duodenal polyposisQ in patients with FAP
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Incidence of duodenal polyps in the patients with FAP?
90-100%Q
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Incidence of duodenal carcinoma in the patients with FAP?
0-5%Q
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Management of duodenal polyps in patients with FAP?
- Medical intervention (with NSAIDs such as sulindac). Sulindac is most successful in the treatment of small (<1 cm) duodenal polypsQ
- Endoscopic polyp ablation, and
- Surgical resectionQ
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What is Gardner’s Syndrome?
- It is autosomal dominant. The combination of FAP with:
- • Bony lesions (osteomasQ, cortical thickening of long bones and ribs)
- • Benign lymphoid polyposis of ileumQ
- • CHRPEQ
- • Dental anomaliesQ (impacted tooth, supernumerary tooth, dental cyst)
- • Desmoid tumors and sebaceous cystQ
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What is Turcot’s Syndrome?
- Autosomal trait, phenotypic variant of FAP
- MC brain tumors are medulloblastoma and particularly glioblastoma
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What is Gardner’s Syndrome?
- AD trait
- Skeletal abnormalities, the most common of which are osteomas, are an essential component of Gardner syndrome.
- The osteomas are characterized by slow, continuous growth, and occur most frequently in the angle of mandibleQ
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Genetics for hereditary Nonpolyposis Colorectal Cancer?
- AD trait
- Defective mismatch repair genes are located on chromosomes 2, 3 and 7Q.
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What is Lynch syndrome I?
CRC onlyQ
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What is Lynch syndrome II?
CRC and associated malignanciesQ
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Gold standard for diagnosis of HNPCC?
Detection of a germline mutation in MMR geneQ
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Extra-intestinal Features of HNPCC?
Endometrial, gastric,Q, ovarianQ, small intestine, pancreatic, thyroid, transitional cell epithelium of the urinary tract, brain cancers.
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MC extraintestinal feature of HNPCC?
Endometrial cancerQ
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HNPCC associated tumor of the CNS?
Glioblastoma
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Revised Amsterdam Criteria?
- Three or more relatives who are diagnosed with an HNPCC-associated cancer (colorectal, endometrium, small bowel, ureter, or renal pelvis) in which one affected person is a first-degree relative of the other twoQ
- At least two successive generations are affectedQ
- One or more cases of cancer are diagnosed before age 50 yearsQ
- FAP has been excludedQ, and tumors have undergone pathology review
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