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GEMS > Genetics & Pathology Low GI > Flashcards

Genetics & Pathology Low GI Flashcards

1
Q

Raised protrusions of colonic mucosa; can occur anywhere in the GI tract, but more common in the colorectal region

A

Polyps

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2
Q

Classification of polyps

A

Neoplastic & Non-neoplastic

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3
Q

Neoplastic polyps

A

Adenoma
Potential to progress to carcinoma (increased risk related to size >2 cm, sessile growth, villous histo)

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4
Q

Non-neoplastic polyps

A

Inflammatory
Hamartomatous
Hyperplastic

Benign epithelial proliferations d/t hyperplasia of glands

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5
Q

SSA

A

Sessile serrated adenomas

Hsito similar to non-neoplastic polyps BUT malignant potential

HP–>SSA/P–>TSA–>carcinoma

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6
Q

Non-neopastic polyps commonly found in

A

LEFT COLON (sigmoid, rectum)

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7
Q

Smooth, nodular protrusions of mucosa

Often on crests of mucosal folds

Frequently multiple in number

A

Non-neoplastic polyps

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8
Q

Micro: Mature goblet & absorptive cells with serrated surface architecture

Serration typically restricted to upper 1/3 of crypt

A

Non-neoplastic polyps

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9
Q

differential dx: Sessile, large, RIGHT sided colon polyps

Dilation, branching, serration extending to base!

A

SSA

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10
Q

A) Sessile: grow directly from “stem” w/o stalk

B)Pedunclated

A

A) Flat
B) w/ stalk

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11
Q

Chronic cycles of injury/bleeding & healing originate inflammatory polyps

A

Solitary rectal ulcer syndrome (non-neoplastic inflammatory polyp)

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12
Q

Rectal bleeding, mucus discharge, inflammatory polyp of anterior rectal wall

A

Solitary rectal ulcer syndrome triad

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13
Q

Failed relaxation of anal sphincter during defecation

A

Etiology of solitary rectal ulcer syndrome

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14
Q

Mixed inflammatory infiltrate

A

Histology of rectal ulcer syndrome

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15
Q

Solitary rectal ulcer syndrome

A

Non-neoplastic inflammatory polyp

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16
Q

Sporatic, mutations in Tumor suppressor or proto oncogeness

A

Hamartomas (non-neoplastic polyps)

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17
Q

Sporadic, mutations in Tumor Suppressor or Proto Oncogenes

A

Etiology Hamartomas (non-neoplastic polyps)

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18
Q

Increased cancer risk w/in polyps or at other intestinal/extraintestinal sites

Present w/ extraintestinal manifestations & possibility of other family members affected

Juvenile polyps vs Juvenile polyposis syndrome

A

Hamartomas (non-neoplastic polyps)

19
Q

Hamartomatous, solitary

Children < 5 yo
No increase risk in CA
Histo identical to JPS pt

A

Sporadic Juvenile Polyp

20
Q

Multiple polyps in stomach/colon

Increased risk of colorectal CA

> 5 polyps (50-200 avg)

A

Juvenile polyposis syndrome (JPS)

21
Q

Almost always syndromatic

Assoc: cardiac, vascular, cranial, skeletal abnormalities, malrotation/Meckel diverticulum

A

Juvenile polyposis syndrome (JPS)

22
Q

Juvenile polyposis syndrome (JPS) – gene

A

SMAD4 mutation

23
Q

+Hamartomatous polps
+Mucocutaneous hyperpigmentation ***
+Bleeding –> hematochexia w/ colonic polyps
+ABD pain (obstruction)

A

Peutz-Jeghers Syndrome

24
Q

Peutz-Jeghers Syndrome

A

Increased risk of malignancies

Demo: 11 yo

Melanonic areas may not be visible in infancy & may fade w/ age

Micro: arborization & presence of smooth mm intermixed w/ lamina propria

25
Q

LKB1/STK11 Mutation

A

Peutz-Jeghers Syndrome Genetics

26
Q

AD, Mutation of APC gene of Wnt pathway

A

Familial adenomatous polyposis

27
Q

+100 polyps (diagnostic)
+Morpho indistinguishable from sporadic adenomas
+Colorectal adenocarcinoma in 100% untreated pts
+adenomatous polyps

A

Familial adenomatous polyposis (FAP)

28
Q

Before age 30, always by age 50

Tx: prophylactic colectomy is std therapy for those with APC mutant

A

Familial adenomatous polyposis (FAP) relationship to colorectal adenocarcinoma

29
Q

Intraepithelial neoplasms (small oft pedunculated polyps –> large sessile lesions)

A

Colonic adenoma (neoplastic polyps)

30
Q

Most common neoplastic polyps

40% adults in West by age 60

Surveillance by age 45

A

Colonic adenoma (neoplastic polyps)

31
Q

+fam hx of colorectal adenocarcinoma

Recommend start colonoscopy screening >10 yr prior to youngest age relative was dx

A

Risk factors of colonic adenomas

32
Q

Size < 1 cm

A

Cancer rare

re: colonic adenoma (neoplastic polyps)

33
Q

Risk of cancer in one polyp DOES NOT confer increased risk of cancer in other polyps in same pt

A

FACTS about colonic adenoma

34
Q

Classification of colonic adenoma

A

Tubular
Tubulovillous
Villous

35
Q

Tubular colonic adenoma

A

Small, pedunculated, rounded tubular glands

36
Q

Villous colonic adenoma

A

Larger & sessile, covered by slender villi

Harbor concerns more frequently that tubular

37
Q

Tubulovillous colonic adenoma

A

Mixed architecture

38
Q

Invasive adenocarcinoma

A

Must be present in submucosa for dx

39
Q

High fat, low fiber, read meat, smoking, alcohol, prior colorectal cancer, radiation, chronic IBD

A

Risk factors for Adenocarcinoma of the colon

40
Q

Right-sided adenocarcinoma Cancer

A

+may grow large w/o obstruction
+Gorws as “raised lesion”
+Asymptomatic chronic bleeding & iron-deficiency anemia (in older pt, assume colorectal CA until proven otherwise)
+fecal occult blood test

41
Q

Left-sided adenocarcinoma Cancer

A

“Appl core”

+ Lumen is narrow & presents w/ obstructive sx

+Grow as “napkin-ring” lesion

+Decreased stool caliber

+Changes in bowel habits

+WT loss, pain

42
Q

Adenocarcinoma of the colon MICRO

A

-Infiltrative malignant glands
-Desmoplasia – submucosal invasion
-Intestinal-type (90%)
-Mucinous (10%) + signet ring cells

43
Q

Increased risk of strep bovis endocarditis

Enterocutaneous & rectovaginal fistulas

Metastasis

Death

A

Adenocarcinoma of the colon COMPLICATIONS

44
Q
A

GEMS (20 decks)

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