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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.
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.
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.
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
What is Familial Adenomatous Polyposis (AD)?
- Autosomal dominantQ inherited syndrome
- Development of >100 adenomatous polypsQ.
- Chromosome 5q21
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.
After Colorectal cancer, which is MC malignancy diagnosed in patients with FAP?
Periampullary adenocarcinoma of duodenumQ
Most common method used to screen for APC mutations?
APC gene testing by protein truncation testQ
Treatment of FAP?
- Prophylactic proctocolectomy
- Total proctocolectomy with ileal pouch–anal anastomosis (IPAA)Q.
What is Spigelman’s Criteria?
Spigelman’s criteria predict the malignant risk of duodenal polyposisQ in patients with FAP
Incidence of duodenal polyps in the patients with FAP?
Incidence of duodenal carcinoma in the patients with FAP?
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
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
What is Turcot’s Syndrome?
- Autosomal trait, phenotypic variant of FAP
- MC brain tumors are medulloblastoma and particularly glioblastoma
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
Genetics for hereditary Nonpolyposis Colorectal Cancer?
- AD trait
- Defective mismatch repair genes are located on chromosomes 2, 3 and 7Q.
What is Lynch syndrome I?
What is Lynch syndrome II?
CRC and associated malignanciesQ
Gold standard for diagnosis of HNPCC?
Detection of a germline mutation in MMR geneQ
Extra-intestinal Features of HNPCC?
Endometrial, gastric,Q, ovarianQ, small intestine, pancreatic, thyroid, transitional cell epithelium of the urinary tract, brain cancers.
MC extraintestinal feature of HNPCC?
HNPCC associated tumor of the CNS?
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