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CMM 520 Cancer > All things CRC + Polyposis > Flashcards

All things CRC + Polyposis Flashcards

1
Q

Polyposis syndromes with CRC risk

A

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

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2
Q

Non-polyposis syndromes with CRC risk

A

Lynch

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3
Q

Other syndromes with CRC risk

A

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

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4
Q

Lynch genes

A

MLH1, MSH2, MSH6, PMS2, EPCAM

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5
Q

Lynch accounts for _ of all colorectal and endotmetrial cancers

A

3%

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6
Q

Lynch syndrome prevalence

A

1 in 279

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7
Q

Non-polyposis colorectal cancer

A

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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8
Q

Cancer is dx _ years younger in a person with Lynch

A

10-15 years (general pop is 50)

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9
Q

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

A

greater than 90%

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10
Q

NCCN recommends __ screening for all CRCs and endometrial cancers

A

dMMR (deficient mismatch repair)

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11
Q

What can screening for Microsatellite instability tell us

A

flag individuals who should be tested for Lynch

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12
Q

NCCN screening for Lynch (personal)

A

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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13
Q

NCCN screening for Lynch (FHX)

A

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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14
Q

Lynch related cancers

A

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

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15
Q

MLH1

A

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

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16
Q

NCCN screening and prevention guidelines MLH1

A

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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17
Q

NCCN screening and prevention guidelines MSH2/EPCM

A

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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18
Q

MSH2

A

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

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19
Q

EPCAM

A

less than 10% of Lynch cases

20
Q

MSH6

A

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

21
Q

NCCN screening and prevention guidelines MSH6

A

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

22
Q

PMS2

A

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

23
Q

NCCN screening and prevention guidelines PMS2

A

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

24
Q

Constitutional MMR deficiency CMMRD

A

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

25
Q

Types of Cancer in the Colon and Rectum

A

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

26
Q

CRC symptoms

A

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

27
Q

Stage 0 CRC

A

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

28
Q

CRC is staged using _ system

A

TNM (tumor size, lymph node status, metastasis)

29
Q

Stage 1 CRC

A

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%

30
Q

Stage 2 CRC

A

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%

31
Q

Stage 3 CRC

A

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%

32
Q

Stage 4 CRC

A

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%

33
Q

Average lifetime risk of CRC in the US

A

4.2%

34
Q

Subtypes of gastrointestinal polyposis syndromes

A

Adenomatous
Hamartomatous

35
Q

Adenomatous syndromes

A

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

36
Q

Hamartomatous syndromes

A

Puetz-Jeghers syndrome
Familial juvenile polyposis

37
Q

Classic familial adenomatous polyposis

A

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

38
Q

Non-cancerous FAP findings

A

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

39
Q

NCCN management for FAP

A

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

40
Q

Attenuated familial adenomatous polyposis

A

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

41
Q

AFAP management

A

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

42
Q

Peutz-Jeghers Syndrome

A

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

43
Q

Cancer Risk for Peutz-Jeghers

A

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

44
Q

Peutz-Jeghers surveillance

A

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

45
Q

Peutz-Jeghers surveillance

A

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

CMM 520 Cancer (16 decks)

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