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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
LKB1/STK11 Mutation
Peutz-Jeghers Syndrome Genetics
26
AD, Mutation of APC gene of Wnt pathway
Familial adenomatous polyposis
27
+100 polyps (diagnostic) +Morpho indistinguishable from sporadic adenomas +Colorectal adenocarcinoma in 100% untreated pts +adenomatous polyps
Familial adenomatous polyposis (FAP)
28
Before age 30, always by age 50 Tx: prophylactic colectomy is std therapy for those with APC mutant
Familial adenomatous polyposis (FAP) relationship to colorectal adenocarcinoma
29
Intraepithelial neoplasms (small oft pedunculated polyps --> large sessile lesions)
Colonic adenoma (neoplastic polyps)
30
Most common neoplastic polyps 40% adults in West by age 60 Surveillance by age 45
Colonic adenoma (neoplastic polyps)
31
+fam hx of colorectal adenocarcinoma Recommend start colonoscopy screening >10 yr prior to youngest age relative was dx
Risk factors of colonic adenomas
32
Size < 1 cm
Cancer rare re: colonic adenoma (neoplastic polyps)
33
Risk of cancer in one polyp DOES NOT confer increased risk of cancer in other polyps in same pt
FACTS about colonic adenoma
34
Classification of colonic adenoma
Tubular Tubulovillous Villous
35
Tubular colonic adenoma
Small, pedunculated, rounded tubular glands
36
Villous colonic adenoma
Larger & sessile, covered by slender villi Harbor concerns more frequently that tubular
37
Tubulovillous colonic adenoma
Mixed architecture
38
Invasive adenocarcinoma
Must be present in submucosa for dx
39
High fat, low fiber, read meat, smoking, alcohol, prior colorectal cancer, radiation, chronic IBD
Risk factors for Adenocarcinoma of the colon
40
Right-sided adenocarcinoma Cancer
+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
Left-sided adenocarcinoma Cancer
"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
Adenocarcinoma of the colon MICRO
-Infiltrative malignant glands -Desmoplasia -- submucosal invasion -Intestinal-type (90%) -Mucinous (10%) + signet ring cells
43
Increased risk of strep bovis endocarditis Enterocutaneous & rectovaginal fistulas Metastasis Death
Adenocarcinoma of the colon COMPLICATIONS
44

GEMS (20 decks)

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