Colon Cancer, Polyps, IBD Flashcards
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)
Which POLYPS should be REMOVED in patients with PEUTZ-JEGHERS?
All STOMACH & COLON polyps >5 mm
All SMALL BOWEL polyps >10 mm
Which POLYPOSYIS SYNDROME requires YEARLY surveillance with EGD, COLONOSCOPY, EUS/MRI, SB imaging, MAMMOGRAM, PELVIC/PAP, TESTICULAR exam?
PEUTZ-JEGHERS (AD 19p13)
What is the DIFFERENCE in NUMBER of POLYPS between JUVENILE POLYPS and JUVENILE POLYPOSIS?
1-2 POLYPS found in JUVENILE polyps
>5 POLYPS in JUVENILE POLYPOSIS
Which of ALL the POLYPOSIS SYNDROMES is AUTOSOMAL RECESSIVE (both gene copies needed for expression from mom and dad)?
MAP (MUTYH Associated Polyposis)
Mutations in the SMAD4 and BMPR1A genes with POLYPS that are EDEMATOUS and CYSTIC histologically?
JUVENILE POLYPOSIS
In patients with JUVENILE POLYPOSIS (>5 polyps) with EITHER SMAD4 or BMPR1A mutations, what SURVEILLANCE is REQUIRED and at what age?
EGD/COLONOSCOPY starting at age 12
Which of the TWO JUVENILE POLYPOSIS MUTATIONS require AVM SCREENING in BRAIN/LUNGS as well as EGD/COLONOSCOPY?
SMAD4 (also causes HHT)
This HAMARTOMAROUS disease is caused by a mutation of the PTEN gene, causes GANGLIONEUROMA POYLPS in colon, BREAST CANCER, THYROID CANCER, COLON CANCER, CEREBELLAR GANGLIOCYTOMA, SKIN HAMARTOMAS, MACROCEPHALY?
COWDEN’s SYNDROME
What surgical procedure INCREASES one’s risk for COLON CANCER?
URETERO-SIGMOIDOSTOMY
FAMILY HISTORY, RED MEAT, PELVIC Radiation therapy, DERMATOMYOSITIS, STREP BOVIS, ACROMEGALY, METABOLIC SYNDROME, CHOLECYSTECTOMY, I1307K APC mutation, CHOLECYSTECTOMY are all ASSOCIATED with?
HIGHER RISK of COLON CANCER
Accumulated somatic mutations in APC, K-RAS, DCC18q, p53 cause what?
COLORECTAL CANCER
Which are the TWO types of PRE-CANCEROUS colon polyps?
ADENOMAS
SERRATED
What are the THREE types of SERRATED colon polyps?
Hyperplastic (benign)
Sessile serrated adenoma
Traditional serrated
Colonoscopy: NO POLYPS, surveillance?
10 YEARS
Colonoscopy: ALL < 10 mm; 1-2, 3-4, 5-10 ADENOMATOUS POLYPS, surveillance?
1-2: 7-10 YEARS
3-4: 3-5 YEARS
5-10: 3 YEARS
Colonoscopy: ≥ 10 mm ADENOMATOUS POLYP, surveillance?
3 YEARS
Colonoscopy: ANY SIZE ADENOMATOUS POLYP with “VILLOUS” HISTOLOGY, surveillance?
3 YEARS
Colonoscopy: ADENOMATOUS POLYP with HIGH-GRADE DYSPLASIA, surveillance?
3 YEARS
Colonoscopy: >10 ADENOMATOUS POLYPS, surveillance?
1 YEAR
Colonoscopy: ≥ 20 mm ADENOMATOUS POLYP PIECEMEAL REMOVAL, surveillance?
6 MONTHS
TIER 1 AVERAGE RISK COLORECTAL CANCER SCREENING?
COLONOSCOPY q10 YEARS
or ANNUAL FIT testing
TIER 2 AVERAGE RISK COLORECTAL CANCER SCREENING?
VIRTUAL COLONOSCOPY q5 YEARS
or FLEX SIG q5-10 YEARS
or FIT-DNA q3 YEARS
TIER 3 AVERAGE RISK COLORECTAL CANCER SCREENING?
VIDEO CAPSULE ENDOSCOPY q5 YEARS
AFTER what AGE should you STOP colorectal cancer SCREENING?
85
IMMUNOLOGICAL test for human HEMOGLOBIN in stool?
FIT (ANNUAL, single-sample)
TEST for MOLECULAR MARKERS for COLORECTAL CANCER in STOOL
FIT-DNA (q3 YEARS, single-sample)
What is the SERUM test for COLORECTAL CANCER?
SEPTIN9 (methylated septin9)
EXCLUDING COLONOSCOPY, which test has the HIGHEST SENSITIVITY (identify disease when its actually there - rule in) for COLORECTAL CANCER?
FIT-DNA (cancer, NOT polyps)
FAMILY HISTORY of ≥1 FIRST DEGREE RELATIVE with COLORECTAL CANCER at ANY AGE, SURVEILLANCE?
Start at AGE 40 or 10 YEARS BEFORE EARLIEST CRC and EVERY 5 YEARS after
FAMILY HISTORY of ≥1 FIRST DEGREE RELATIVE with ADVANCED ADENOMA or SESSILE SERRATED POLY at ANY AGE, SURVEILLANCE?
Start at AGE 40 or AGE of ONSET of ADENOMA and EVERY 5 YEARS after
FAMILY HISTORY of 2nd or 3rd DEGREE RELATIVES with CRC at ANY AGE, SURVEILLANCE?
AS PER USUAL SURVEILLANCE, NO DIFFERENCE
After diagnosis of COLON CANCER, s/p SURGERY, when do you do SURVEILLANCE if normal SURVEILLANCE previosly? If NONE previously?
1 YEAR
3-6 MONTHS
After diagnosis of COLON CANCER, s/p SURGERY, when do you do SURVEILLANCE if find ADVANCED ADENOMA on the 1 YEAR SURVEILLANCE colonoscopy?
1 YEAR
ADENOMATOUS POLYP >1 cm; ADENOMATOUS POLYP with >25% VILLOUS component; ADENOMATOUS POLYP with HIGH-GRADE DYSPLASIA; ADENOMATOUS POLYP with EARLY INVASIVE CANCER?
ADVANCED ADENOMA
After diagnosis of COLON CANCER, s/p SURGERY, when do you do SURVEILLANCE if NO ADVANCED ADENOMA? THEN if NEGATIVE?
3 YEARS
5 YEARS
WHEN should you SCREEN IBD patients with COLONOSCOPY?
8 YEARS after DIAGNOSIS
HOW do you SCREEN IBD patients with colonoscopy?
CHROMO or HD WHITE LIGHT, 4 QUADRANTS every 10 cm
HOW FREQUENTLY do you SCREEN HIGH-RISK IBD patient (PSC, EXTENSIVE disease, ACTIVE disease, FAMILY HISTORY of CRC)?
YEARLY
HOW FREQUENTLY do you SCREEN LOW-RISK IBD (REMISSION, LEFT-SIDED) patient?
q2-3 YEARS
WHEN do you start SCREENING for CRC in a patient with IBD found to have PSC?
IMMEDIATELY
AD, MISMATCH REPAIR PROTEIN mutation, NO POLYPS, RIGHT-SIDED (proximal) COLON CANCER?
LYNCH SYNDROME
(1,2,3) 1: FAMILY MEMBER diagnosed with colon cancer < 50 yo; 2: 2 GENERATIONS; 3: 3 or more with CRC
HNPCC (Hereditary Non-Polyposis Colon Cancer)
SPORADIC Colon Cancers usually occur in which PART of the COLON?
LEFT (mean age of diagnosis is 68)
HNPCC and LYNCH colon cancers occur in which PART of the colon?
RIGHT (mean age of diagnosis is 44)
LYNCH SYNDROME is MAINLY associated with what EXTRA-COLONIC cancer?
ENDOMETRIAL
CRC SCREENING in LYNCH SYNDROME?
Starting at age 20-25, q1-2 YEARS or 2-5 YEARS prior to EARLIEST CRC in family if occured < 25 yo
BESIDES CRC SCREENING, what else do you SCREEN for in patients with LYNCH SYNDROME?
STOMACH - EGD
UTERUS/OVARIES - TV US, CA-125
GU - U/A
PROSTATE - digital exam, PSA
In WOMEN with LYNCH SYNDROME, once OUT of CHILD BEARING age, what should be considered?
HYSTERECTOMY + OOPHERECTOMY
What MEDICATION is used PROPHYLACTICALLY for patients with LYNCH SYNDROME?
ASPIRIN
MLH1; MSH2; MSH6; PMS2; EPCAM mutations, MICROSATELLITE instability (addition of nucleotide repeats), IMMUNOHISTOCHEMISTRY (stain tumor for ABSENT mismatch repair proteins), BRAF mutation?
LYNCH SYNDROME
If pt HAS MICROSATELLITE INSTABILITY or on IMMUNOHISTOCHEMISTRY, has ABSENCE of the MISMATCH REPAIR PROTEINS, BUT BRAF testing shows POSITIVE MUTATION (SOMATIC MLH1) or MLH1 PROMOTER HYPERMETHYLATION is PRESENT (also SOMATIC MLH1 mutation)?
NOT LYNCH
BRAF mutation POSITIVE or MLH1 PROMOTER HYPERMETHYLATION POSITIVE, REGARDLESS of IMMUNOHISTOCHEMISTRY or MICROSATELLITE INSTABILITY FINDINGS?
NOT LYNCH SYNDROME
BRAF mutation NEGATIVE or MLH1 PROMOTER HYPERMETHYLATION NEGATIVE?
LYNCH SYNDROME
To DIAGNOSE LYNCH SYNDROME, once MICROSATELLITE INSTABILITY is FOUND or IMMUNOHISTOCHEMISRTY is positive for ABSENT MISMATCH REPAIR PROTEINS, what MUST be done NEXT?
BRAF and MLH1 PROMOTER HYPERMETHYLATION testing (if POSITIVE, NOT LYNCH)
ANY patient found to have CRC, what TEST is done next to determine if GENETIC COMPONENT exists?
IMMUNOHISTOCHEMICAL TESTING (look for ABSENT mismatch repair proteins)
A patient with CRC undergoes IMMUNOHISTOCHEMICAL testing and is found to have ALL mismatch repair proteins PRESENT, none are absent?
NOT LYNCH
A patient with CRC undergoes IMMUNOHISTOCHEMICAL testing and is found to ABSENT MLH1 or PMS2 mismatch repair proteins, what is done NEXT?
PROMOTER HYPERMETHYLATION testing
or
BRAF mutation testing
if these are PRESENT - NOT LYMCH
if ABSENT - refer to GENETIC COUNSELOR for GERMLINE TESTING
A patient with CRC undergoes IMMUNOHISTOCHEMICAL testing and is found to ABSENT MSH2 or MSH6 mismatch repair proteins, what is done NEXT?
Refer to GENETIC COUNSELOR for GERMLINE TESTING
ALL LYNCH patients with CRC or POSITIVE GENOTYPES should be RECOMMENDED what?
HYSTERECTOMY + OOPHERECTOMY
ALL LYNCH patients with CRC should be RECOMMENDED what?
COLECTOMY with SURVEILLANCE of RECTUM
A patient with FAP with COLECTOMY with RECTUM intact, needs surveillance of RECTUM HOW OFTEN?
YEARLY
DO FAP patients have an increased risk of GU tumors necessitating TV US or U/A?
NO
A patient with FAP HOW OFTEN do they need surveillance of THYROID?
q2-5 YEARS
PRESENCE of MSH2 or MSH6 mutations?
LYNCH SYNDROME
If on ENDOSCOPY, a patient is found to have features of JUVENILE POLYPOSIS SYNDROME (>5 EDEMATOUS, CYSTIC polyps, multiple GASTRIC polyps), what is RECOMMENDED NEXT?
GENETIC TESTING (SMAD4, BMPR1A, PTEN)
On COLONOSCOPY, you remove a HYPERPLASTIC POLYP >1 cm, when should you REPEAT colonoscopy?
3-5 YEARS