All things CRC + Polyposis Flashcards by Ileana Trujillo

Polyposis syndromes with CRC risk

Familial Adenomatous Polyposis (FAP)
Juvenile Polyposis Syndrome (JPS)
MYH-Associated Polyposis (MAP)
Puetz-Jeghers Syndrome
Serrated polyposis syndrome

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Non-polyposis syndromes with CRC risk

Lynch

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Other syndromes with CRC risk

Bloom
Familial gastrointestinal stromal tumor
Hereditary diffuse gastric cancer syndrome
Li-Fraumeni
Cowden syndrome

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Lynch genes

MLH1, MSH2, MSH6, PMS2, EPCAM

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Lynch accounts for _ of all colorectal and endotmetrial cancers

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Lynch syndrome prevalence

1 in 279

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Non-polyposis colorectal cancer

develop similar polyps to gen pop
develop polyps at younger age
each polyp has great chance of transforming from adenoma to adenocarcinoma

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Cancer is dx _ years younger in a person with Lynch

10-15 years (general pop is 50)

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Lifetime risk to develop colorectal or other lynch associated cancer is _

greater than 90%

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NCCN recommends __ screening for all CRCs and endometrial cancers

dMMR (deficient mismatch repair)

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What can screening for Microsatellite instability tell us

flag individuals who should be tested for Lynch

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NCCN screening for Lynch (personal)

PHX for colorectal or endometrial cancer and any of the following:
- dx under 50
- synchronous or metachronous LS related cancer
- 1st or 2nd degree relative with LS related cancer under 50
- more than 2 1st degree relative with LS related cancer regardless of age

having greater than 5% of having MMR gene pathogenic variant based on predictive models

PHX of a tumor with MMR deficiency determined by PCR, NGSM or IHC at any age

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NCCN screening for Lynch (FHX)

more than one 1st degree relative with CRC or endometrial cancer under 50
or
more than one 1st degree relative with CRC or endometrial cancer and other LS related cancer regardless of age
or
more than 2 1st or 2nd degree relatives with LS cancer including one dx under 50
or
more than 3 1st or 2nd degree relatives with LS related cancer regardless of age

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Lynch related cancers

Colorectal, endometrial, gastic, ovarian, pancreas, urothelial, brain, biliary tract, small intestine

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MLH1

15-40% of Lynch dx
more than 700 variants known to cause Lynch
greatest risk for CRC, endometrial, ovarian

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NCCN screening and prevention guidelines MLH1

Colonscopy starting 20-25 or 2-5 years prior to earliest CRC in family; every 1-2 years
Endometrial: education and consider risk reducing hysterectomy, or endometrial biopsies starting at 30-35, every 1-2 years
ovarian screening: CA:125
upper GI surveillance with upper endoscopy starting at age 30-40 years, every 2-4 years
pancreatic cancer: consider annual MRI with contrast if more than one relative affected or start at 50
prostate: consider annual at 40
skin exams every 1-2 years

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NCCN screening and prevention guidelines MSH2/EPCM

Colonscopy starting 20-25 or 2-5 years prior to earliest CRC in family; every 1-2 years
Endometrial: education and consider risk reducing hysterectomy, or endometrial biopsies starting at 30-35, every 1-2 years
ovarian screening: ca-125
upper GI surveillance with upper endoscopy starting at age 30-40 years, every 2-4 years
pancreatic cancer: consider annual MRI with contrast if more than one relative affected or start at 50
prostate: consider annual at 40
skin exams every 1-2 years

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MSH2

20-40% of Lynch cases
over 800 variants known to cause Lynch

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EPCAM

less than 10% of Lynch cases

MSH6

12-35% OF Lynch cases
lower risk of CRC and later age of onset compared to MLH1 and MSH2

NCCN screening and prevention guidelines MSH6

Colonoscopy starting at 30-35, or 2-5 years prior to earliest onset; repeat every 1-2 years
Endometrial: education and consider risk reducing hysterectomy, or endometrial biopsies starting at 30-35, every 1-2 years
upper GI surveillance with upper endoscopy starting at age 30-40 years, every 2-4 years
pancreatic cancer: consider annual MRI with contrast if more than one relative affected or start at 50
prostate: consider annual at 40
skin exams every 1-2 years

PMS2

5-25% of Lynch cases
lower risk of CRC compared to MLH1 or MSH2
lower risk for other Lynch related cancer, but earlier age of onset

NCCN screening and prevention guidelines PMS2

Colonoscopy starting at 30-35, or 2-5 years prior to earliest onset; repeat every 1-2 years
Endometrial: education and consider risk reducing hysterectomy, or endometrial biopsies starting at 30-35, every 1-2 years
upper GI surveillance with upper endoscopy starting at age 30-40 years, every 2-4 years
prostate: consider annual at 40
skin exams every 1-2 years

Constitutional MMR deficiency CMMRD

individuals with balletic pathogenic variants in MLH1, MSH2, MSH6, and PMS2
onset of color or small bowel cancer under 20
hematology cancer, brain cancerm and cafe au last macule

Types of Cancer in the Colon and Rectum

adenocarcinoma (most common) squamous cell carcinoma neuroendociine tumors lymphomas leiomyosarcomas gastrointestinal stromal tumors

CRC symptoms

change in bowel habits feeling you need a bowel movement, but not relived by having one rectal bleeding with bright red blood blood in stool (dark stool) cramping/ abdominal pain weakness and fatigue unintended weight loss

Stage 0 CRC

carcinoma in situ tumor has not grown beyond mucosa treatment: surgical removal of tumor and normal margins 5 year survival rate 95%

CRC is staged using _ system

TNM (tumor size, lymph node status, metastasis)

Stage 1 CRC

tumor has grown through mucosa and into submucosa no spreading to lymph nodes or distant sites treatment: surgical removal of tumor and normal margins, radiation 5 year survival: 90-95%

Stage 2 CRC

Cancer has grown into or through outermost layers of the colon/rectum and may have local spread (not to lymph nodes) treatment: surgical removal of tumor and normal margins, segmental colectomy and lymph node excision w/chemo + radiation 5 year survival: 65-80%

Stage 3 CRC

Tumor cells have spread locally and invaded lymph nodes but have not spread to distant tissues treatment: segmental resection w/chemo 5 year survival: 20-60%

Stage 4 CRC

tumor cell have spread locally have invaded the lymph nodes and have metastasized distant sites typical metastases include liver and lungs therapy: chemo, surgery 5 year: 5-10%

Average lifetime risk of CRC in the US

4.2%

Subtypes of gastrointestinal polyposis syndromes

Adenomatous Hamartomatous

Adenomatous syndromes

Familial adenomatous polyposis (FAP) MUTYH-associated polyposis Serrated polyposis syndrome

Hamartomatous syndromes

Puetz-Jeghers syndrome Familial juvenile polyposis

Classic familial adenomatous polyposis

mutations in APC gene greater than 100 adenomatous colon polyps average age on onset of polyps is 35 100% chance of CRC if left untreated increased risk for stomach, small intestine, pancreas, biliary tract, hepatoblastoma (children), papillary thyroid cancer

Non-cancerous FAP findings

osteomas extra, missing/unerupted teeth Desmoid tumors congenital hypertrophy skin changes (epidermoid cysts and fibromas) adrenal masses

NCCN management for FAP

colonoscopy every year starting at 10 to 15 colectomy once polyp burden is high after surgery, endoscopy every 6-12 months if rectal tissue remains or every 1-3 years if all rectal tissue removed upper endoscopy at 25-30 baseline thyroid exam in later teenage years then 2-5 years if normal annual abdominal palpatation for demoed tumors annual phylsical exam for CNS cancer skin exams

Attenuated familial adenomatous polyposis

APC gene, average 30 polyps (most often in proximal colon) later onset CRC (50-55) 75% lifetime risk duodenal polyps gastric polyps papillary thyroid cancer

AFAP management

colonoscopy in late teens then 1-2 years colectomy is polyp burden to high upper endoscopes beginning at 20 to 25, every 1-2 years depending on polyps baseline thyroid US in teens then 2-5 years if normal

Peutz-Jeghers Syndrome

STK11; AD dark skin freckling around mouth, eyes, nostrils, fingers, inside mouth around anus (may fade out of childhood) most common polyps in small intestine

Cancer Risk for Peutz-Jeghers

lifetimer risk as high as 85% gastrointestinal, breast, cervical, uterine, pancreatic, lung Sertoli cells carcinoma in testes

Peutz-Jeghers surveillance

colonoscopy beginning at 18 year, repeat 2-3 years upper endoscopy every 2-3 years starting at 18 small bowel visualization, clinical breast exams, pelvic exam + PAP, pancreas imagingg, testes exam

Peutz-Jeghers surveillance

colonoscopy beginning at 18 year, repeat 2-3 years upper endoscopy every 2-3 years starting at 18 small bowel visualization, clinical breast exams, pelvic exam + PAP, pancreas imaging, testes exam

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All things CRC + Polyposis Flashcards

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