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GI 2 Midterm > gene mutations > Flashcards

gene mutations Flashcards

1
Q

PLAG1

A

pleiomorphic adenoma

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2
Q

PTCH on 9q22

A

odontogenic keratocyst

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3
Q

MECT1 + MAML2

A

mucoepidermoid carcinoma

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4
Q

RET mutation

A

Hirschsprung dz

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5
Q

esophagus

Tp53, CDKN2A –> cyclin D1, E, EGFR. ERBB2, MET

A

adenocarcinoma of the esophagus

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6
Q

esophagus
SOX2 amplification
Cyclin D1, TP53, E-cadherin

A

SCC of esophagus

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7
Q

MEN-1 mutation

stomach

A

Zolinger Elison syndrome

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8
Q

FAP in the stomach

A

fundic gland polyps
gastric adenomas
gastric adenocarcinoma (familial type)
increased risk with PPIs

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9
Q

B-catenin, TGF-Beta, BAX CDKN2

A

sporadic gastric adenocarcinoma

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10
Q

CDH1 in the stomach

A

familial gastric adenocarcinoma

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11
Q

AP12-MLT translocation

increased expression of MALT1 & BCL-10

A

MALToma of the stomach

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12
Q

gain of function in KIT .

A

GI stromal tumor

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13
Q

HLA-DQ8, HLA-DQ2

A

celiac dz

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14
Q

EATL

A

celiac disease complication– t cell lymphoma

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15
Q

FOXP3

A

x linked IPEX - autoimmune enteropathy

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16
Q

MTP

A

abetaproteinemia

GI 2 Midterm (4 decks)

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