Colon Cancer, Polyps, IBD Flashcards
(226 cards)
If a patient has ≥10 ADENOMATOUS polyps on a SINGLE colonoscopy, what should be TESTED for?
GENETICS for POLYPOSIS syndromes
If a patient has ≥20 ADENOMATOUS polyps on CUMMULATIVE colonoscopies, what should be TESTED for?
GENETICS for POLYPOSIS syndromes
If a patient has ≥2 HAMARTOMATOUS polyps on CUMMULATIVE colonoscopies, what should be TESTED for?
GENETICS for POLYPOSIS syndromes
AUTOSOMAL DOMINANT, APC gene (5q21), HUNDREDS of adenomatous polyps, COLON CANCER at YOUNG AGE (39)?
Familial Adenomatous Polyposis (FAP) - colon cancer at age 39)
At what AGE do patients with APC gene (5q21) begin to make colon polyps?
15
OSTEOMAS (skull, long bones, between teeth), SKIN tumors (fibromas, lipomas, epidemoid cysts), EYE (CHRPE lesions), THYROID cancer, HEPATOBLASTOMA, ANGIOFIBROMA are found with what POLYPOSIS syndrome?
FAP (AD APC gene 5q21)
What can you see on BIOPSY of the NORMAL-APPEARING colon of an FAP patient BEFORE polyps occurr (APC 5q21)?
MICROADENOMAS
Who should be SCREENED in FAP and how frequently?
Test AFFECTED person 1st (father, etc) if suspecting child has it
If father has it, check APC GENE TEST of child at age 10-12
YEARLY COLONOSCOPY
(pretest counseling, informed consent)
Treatment for FAP?
COLECTOMY (age 15-25)
What is the POST-COLECTOMY follow-up of an FAP patient?
IF POUCH - YEARLY FLEX SIG
EGD for UGI polyps YEARLY (duodenal cancer)
THYROID
DESMOIDS - imaging
At what LOCATION on the APC gene are the FAP mutations?
CENTER
At what LOCATION on the APC gene are the ATTENUATED FAP mutations?
5’ and 3’ (at both ENDS)
A patient that seems to have FAP but instead of HUNDREDS to THUSANDS of ADENOMATOUS polyps, they have < 100 and usually in the ASCENDING RIGHT COLON?
ATTENUATED FAP (AD colon cancer at 51)
What is the SCREENING and TREATMENT for ATTENUATED FAP?
GENETIC TESTING of ALL FAMILY MEMBERS (pedigrees)
COLONOSCOPY q1-2 years in LATE TEENS
COLECTOMY when too many adenomatous polyps are found
A patient that PRESENTS with findings of FAP or ATTENUATED FAP, AUTOSOMAL RECESSIVE inheritance, can also have UGI (duodenal polyps, cancer) and ASSOCIATED with BREAST, OVARIAN, URINARY and SKIN CANCERS (no osteomas, desmoids, thyroid or CHRPE - eye)?
MAP (AR MUTYH Associated Polyposis)
HUNDREDS of colon polyps, with associated BREAST, OVARIAN, URINARY and SKIN cancers?
MAP (AR MUTYH Associated Polyposis)
HUNDREDS -THOUSANDS of colon polyps with associated OSTEOMAS, DESMOID tumors, THYROID cancer and CHRPE?
FAP (AD thousands) or ATTENUATED FAP (AD hundreds)
FAP presentation with BRAIN (MEDULOBLASTOMA)?
CRAIL’s SYNDROME (APC gene)
LYNCH presentation with BRAIN (GLIOBLASTOMA)?
TURCOT’s SYNDROME (MMR gene - mismatch repair)
Can PEUTZ-JEGHER patients develop polyps in the ESOPHAGUS?
NO (arborization and muscle fibers in hamartomas)
STK11 GENE mutation is associated with which POLYPOSIS SYNDROME?
PEUTZ-JEGHERS (AD 19p13)
Which POLYPOSIS SYNDROME is associated with Small Bowel INTUSUSCEPTION?
PEUTZ-JEGHERS (AD 19p13)
POLYPOSIS SYNDROME associated with CANCERS of the BREAST, OVARY (MAP), PANCREAS, LUNG, CERVICAL (adenoma malignum) TESTICLES?
PEUTZ-JEGHERS (AD 19p13)
This POLYPOSIS SYNDROME is associated with PREMATURE ADOLESCENCE of MALES due to SERTOLI CELL TESTICULAR TUMORS?
PEUTZ-JEGHERS (AD 19p13)