colon polyps

discrete mass or lesions that extend into the intestinal lesion that can be either sporadic or familial

colon polyps

4 major pathological groups of colon polyps

mucosal adenomatous; tubular, tubulovillous, villous

mucosal serrated: hyperplastic, sessile, traditional serrated adenoma

mucosal non-neoplastic: juvenille, hamartoma, inflammatory

submucosal: lipomas, lymphoid aggregates, carcinoids, pneumatosis cystoids intestinalis

70% of polyps removed during colonoscopy are ____

adenomatous

(most other 30% are serrated)

adenomatous and serrated colon polyps have a higher chance than submucosal and non-neoplastic polyps for what happening

becoming mallignant

colon polyps present in 30% of adults over 50yo, 95% will develop into carcinoma from dysplastic transition which is why we gotta take em out

nonfamilial adenomatous and serrated colon polyps

what DNA mutation causes adenomatous polyps to turn into cancer

inactivation of normal APC gene → chromosomal instability and inactivation of other tumor suppressor genes → colon cancer (takes roughly 10yrs)

what DNA mutation causes serrated polyps to turn into cancer

Kras mutations or BRAF oncogene activation → inactivation of tumor suppression genes OR mismatch of repair genes → colon cancer

which polyp location has a higher chance of becoming cancerous

polyps in proximal colon (near splenic flexure) esp if over 1cm

polyps under 5mm in rectosigmoid colon dont matter

adenomas that high a higher risk of advancing to carcinomas, over 1cm in size and have villous features and high grade dysplasia

advanced adenomas (pre cancer)

what do serrated polyps arise from (similar chance of developing cancer as adenomatous polpys)

hyperplastic polyps

polyps sx

usually asx (which is why screening is so important!!)

maybe: reported intermittent blood from rectum due to ulcerated polyp, fatigue (from chronic blood loss), pallor, gross blood on rectal exam

polyps labs (±)

fecal occult blood test, fecal immunochemical test, anemia from chronic blood loss

polyps dx of choice to detect and remove polyps (allows for immediate biopsy/removal)

colonoscopy

all pts w pos FOBT, fecal immunochemical test, DNA testing or unexplained anemia should do what

get a colonoscopy

polyps imaging

colonoscopy (allows for immediate biopsy/removal)

CT colonography (requires rectal air insufflation, ok for screening)

barium enema (no longer recommended)

polyps tx

colonoscopic polypectomy (used for most, use forceps or snare cautery), but has risk of perforation and significant bleeding so be careful

when is a malignant polyp considered completely removed and treatment completed and what do we do after

polyp is completely excised and submitted for histologic exam, clean margina, no vascular or lymphatic involvement

(if criteria not met a bowel resection is required)

required follow up in 3 months w repeat colonoscopy

if there are no findings on colonoscopy what is the recommended surveillance for colon polyps and/or cancer

colonoscopy in 10 yrs

if there are 1-2 small (under 1cm) tubular adenomas w/out villous features or high grade dysplasia on colonoscopy what is the recommended surveillance for colon polyps and/or cancer

colonoscopy in 5-10 yrs

if there are 3-10 adenomas, adenomas over 1cm or adenomas w villous features or high grade dysplasia on colonoscopy what is the recommended surveillance for colon polyps and/or cancer

colonoscopy in 3yrs

if there are over 10 adenomas on colonoscopy what is the recommended surveillance for colon polyps and/or cancer

colonoscopy in 1-2 yrs to rule out familial polyposis syndrome w genetic testing

if there are small (under 1cm) serrated polpys without dysplasia on colonoscopy what is the recommended surveillance for colon polyps and/or cancer

colonoscopy in 5yrs

if there are large (over 1cm) serrated polpys and those w cytologic dysplasia on colonoscopy what is the recommended surveillance for colon polyps and/or cancer

colonoscopy in 3yrs

if there are small typical hyperplastic polpys in the distal colon and rectum on colonoscopy what is the recommended surveillance for colon polyps and/or cancer

no surveillance needed until 50yo

germline genetic mutations with high risk for cancer, accounting for 4% of all colorectal cancer cases (family hx huge to determine screening

hereditary polyposis syndromes

if you see any of these conditions in someones family hx genetic counseling is needed

more than 1 family member affected by polyposis syndrome

personal or family hx of colorectal cancer at under 50yo

personal or family hx of 20+ polyps

types of hereditary polyposis syndromes

familial adenomatous polyps, hamartomatous polpyosis syndromes, lych syndrome

type of hereditary polyposis syndrome characterized by development of 100s-1000s of colonic adenomatous polpys and extracolonic manifestations

(15% of these pts have no genetic link and develop this de novo, accounts for 0.5% of colorectal cancer pts)

familial adenomatous polyposis

familial adenomatous polyposis extracolonic manifestations

soft tissue tumors, osteomas, hypertrophy of retinal pigment

DNA mutation associated w familial adenomatous polyposis

autosomal dom inherited mutation of APC (adenomatous polyposis coli) gene in 90% or MUTYH gene in 8%

familial adenomatous polyposis prognosis

colorectal polyps by 15 and cancer by 40

familial adenomatous polyposis tx

prophylactic colectomy to prevent inevitable cancer

complete proctocolectomy w ileoanal anastamosis

colectimy w ileorectal anastamosis before 20yo

upper endoscopy eval every 1-3yrs (lesions over 2cm need excision)

sulindac (NSAID) and COX2 inhibitor (celebrex) to dec number and size of polpys in rectal stump (but not duodenum)

types of hamartomatous polpyosis syndromes (rare, less thatn 0.1% of colorectal cancers)

peutz-jeghers syndrome, familial juvenile polyposis, PTEN multiple hamartoma syndrome (aka cowden disease)

a type of hamartomatous polpyosis syndrome that is autosomal dom and is from a mutation in the serine threanonine kinase 11 gene

peutz-jeghers syndrome

a type of hamartomatous polpyosis syndrome that is autosomal dom and is from a genetic defect in the 18q and 10q gene

familial juvenile polyposis

a type of hamartomatous polpyosis syndrome that is from a mutation in the PTEN gene

cowden disease aka phosphatase & tensin homolog (PTEN) syndrome

clinical presentation/sx of peutz-jeghers syndrome

polyps throughout intestines (mostly small intestines)

pigmented macules on buccal mucosa, lips, skin (not malignant but inc chances of malignancies)

up to 60% develop Gi cancer and 50% develop breast cancer

clinical presentation/sx of familial juvenile polyposis

defined by over 10 polpys, mostly in colon

possible adenomatous polyps

up to 50% risk of adenocarcinoma

affects “juvenile” tissue, not pediatric pts

clinical presentation/sx of cowden disease aka phosphatase & tensin homolog (PTEN) syndrome

polyps and lipomas throught GI tract, trichilemmomas, cerebellar lesions

risk of cancer in thyroid, breast, and GU tract

autosomal dom hereditary nonpolyposis colon CA seen in 3% of all colorectal cancers (pts also have a high risk of other cancers, esp endometrial) that must be ruled out bc high lifetime rate of cancer in all pts

lynch syndrome

we must rule out lynch syndrome in all pts w ____

early onset colorectal cancer, family hx of colorectal cancer or other cancers at young age or in multiple family members

what cells do we see in lynch syndrome

few adenomas, cells are flat w villous features or high grade dysplasia that rapidly transform from benign to cancerous (1-2yrs)

genetic mutation seen in lynch syndrome

defect in either MLH1, MSH2, MSH6, or PMS2 (vital for DNA base-pair matching)

what cell transformation happens in lynch syndrome

normal tissue → HNPCC adenoma → cancer (all in 1-2yrs)

bethesda criteria to select individuals that should get genetic testing for lynch syndrome (all colorectal cancer pts should still receive genetic testing bc this only finds 70% of ppl w lynch syndrome)

colorectal cancer under 50

multiple or reoccuring colorectal or HNPCC associated tumors (regardless of age)

colorectal cancer w 1 or more first degree relatives before age 50

colorectal cancer w 2 or more 2nd degree relatives w either colorectal cancer or HNPCC regardless of age

tumors w infiltrating lymphocytes, mucinous/signet ring differentiation, or medullary growth pattern in pts under 60yo

a protrusion, bulge, or projection of an organ or part of an organ through the abdominal or pelvic wall that form through weak spots within the muscular or facial planes (can be acquired or congenital) and are the 2nd most common cause of bowel wall obstruction

abdominal wall hernias

types of abdominal wall hernias

incisional, umbilical, epigastric, spigelian, inguinal, femoral

abdominal wall hernias risk factors

obesity, preg, straining (excessive weightlifting, defecatoin, BPH, exercise), trauma/surgery, smoking, ascites, aging, family hx of hernias, connective tissue disease (EDS, marfan, loeys dietz)

abdominal wall hernias sx

pain/bulge w a palpable mass (reliable means to dx hernia just w this)

how are hernias categorized

by location and reducibility

type of hernia where contents return to the abdomen spontaneously or w light manual pressure, has a full ache w intermittent protrusion

reducible hernia

type of hernia where contents are “stuck” and cant be pushed back into abdomen, if acute will have crampy abdominal pain, localized tenderness, N/V, obstruction, or fever (can become surgical emergency)

incarcerated or irreducible hernias

type of hernia where contents become trapped, and blood supply becomes compromised leading to ischemia and necrosis (can become surgical emergency)

strangulated hernias

technically any hernia of the abdominal wall is a _____

ventral hernia

protrusion through an incision site less than 1yr post surgery (protrusion of contents through a previous incision by a defect in the facial closure, results from 10% of all abdominal surgeries)

incisional hernia

protrusion through the umbilicus

umbilical hernia

protrusion in epigastric region

epigastric hernia

protrusion through lateral wall

spigelian hernia

hernia that is congenital in kids but acquired in adults (from ascites, preg, obesity, cysts or cancer) that usually heals spontaneously in kids under 2yo or can be surgically repaired via primary direct closure w suture/mesh, which is the only cure in adults

umbilical hernia

most common site of all hernias

groin region (indirect inguinal hernia, direct inguinal hernias, femoral hernias)

groin hernia common in men and women, more often on the right side

indirect inguinal hernias

groin hernia thats more commonly incarcerated than other groin hernias

femoral hernias

how do indirect inguinal hernias happen

protrusion at internal inguinal ring (where spermatic cord is in men and round ligament in women leaves abdominal cavity) → hernia moves through internal inguinal ring (mesentaric fat, intestines, ovaries, fallopian tubes, or uterus can get herniated)

groin hernia most often found in scrotum, mostly congenital, has a risk for strangulation (cause of narrow defect), often seen in 1yo or younger and 10-30yo and can recurr post op

indirect inguinal hernias

how do direct inguinal hernias happen

herniated sac protrudes through inguinal wall (less likely to end up in scrotum) → protrude medial to inferior epigastric vessels in hesselbach triangle (made of inginal ligament on bottom, inferior epigastric vessels on the side, and rectus abdominus muscle medially)

how do femoral hernias happen

located inferior to the inguinal ligaments → protrudes through femoral ring (medial to femoral vein and lateral to lucunar ligament

groin hernia more common in women and more on the right side, initially asymptomatic but has high risk for strangulation/incarceration and can reoccur post-op

femoral hernia

inguinal hernia sx

acute= sharp pain and swelling after event

many asx following acute episode or in subacure presentations and found incidentally

gradual onset of discomfort (dull pain radiating into groin)

localized swelling or visible and palpable mass (reducible mass w light pressure or dissappears on its own w supination

infants may have irritability

exacerbated by cough/valsalva/straining

inguinal hernia just superior to pubic tubercle

direct inguinal hernia

inguinal hernia that is a scotal mass or enlargement

indirect inguinal hernia

physical exam preferred maneuvers for inguinal hernias

place gloved finger into external inguinal rung of pt via scrotum. pt asked to cough or strain to inc intraabdominal pressure, done bilaterally w pt standing

mass touching tip of finger = indirect

mass touching side of finger = direct

inguinal hernia dx

abdominal series xrays (rules out perforation and may see bowel in scrotum)

ultrasound (differentiating scrotal masses)

CT w contrast (helps differentiate hernias and identify small hernias causing pain w/o clinical evidence

inguinal hernia tx

daytime truss, avoid straining, manual reduction using supine position, surgical consult (herniorrhaphy or hernioplasty to reduce sac and clsoe defect, only method of tx to prevent incarceration or strangulation)

if you see an inguinal hernia on the left side its not an inguinal hernia its

a varicocele