genes

Question 1

GoF in Tyrosine kinases: EGFR, ALK, ROS, MET, RET

Answer 1

adenocarcinomas

Question 2

HLA class II alleles

Answer 2

asthma (prob atopic)

-linked to prod IgE abs

Question 3

My88

Answer 3

predispose to pulm infection

Question 4

TSC2 (tuberin) mutation

Answer 4

Lymphangioleiomyomatosis

= Increased mTOR activity

Question 5

Loss of RB.

Answer 5

squamous cell carcinoma

-also SCLC**

Question 6

Β2adrenergic receptor

Answer 6

asthma (prob atopic)

airway reactivity

Question 7

Gene encoding IL13, IL4,5,9: all on chr 5q

Answer 7

asthma (prob atopic)

Question 8

ABCA3

Answer 8

Surfactant Dysfunction Disorder Mutations

Question 9

ADAM33

Answer 9

asthma (prob atopic)

-leads to bronchial smooth m. and fibroblast proliferation

Question 10

Loss of TP53 (17p)

Answer 10

squamous cell carcinoma

• highest mutation rate of this gene of all lung cancers
• also SCLC.

Question 11

MUC5B

Answer 11

Idiopathic Pulmonary Fibrosis (IPF)

Question 12

CD34

Answer 12

Solitary Fibrous Tumor

Question 13

Amplification of FGFR1

Answer 13

squamous cell carcinoma

Question 14

YKL-40

Answer 14

asthma (prob atopic)
=increased levels of this chitinase-like glycoprotein is directly correlated with dz severity, airway remodeling, and decreased pulmonary function

Question 15

Chr 9: CDKN2A/INK4A deletion (tumor suppressor)

Answer 15

malig mesothelioma

Question 16

unfolded protein response that harms T2 pneumocytes –> prob w surfactant

Answer 16

Idiopathic Pulmonary Fibrosis (IPF)

Question 17

mutatinon in GM-CSF

Answer 17

Pulmonary Alveolar Proteinosis (PAP)

Question 18

BMPR2

Answer 18

Familial Pulmonary HTN

Question 19

IL4 receptor.

Answer 19

asthma (prob atopic)

Question 20

piZZ

Answer 20

a1ATD –> more suscepptable to panacinar emphysema

Question 21

ALK

Answer 21

Inflammatory Myofibroblastic Tumor, adenocarcinoma

Question 22

HLA-A1, HLA-B8

Answer 22

sarcoidosis

Question 23

NAB2 -STAT6 rearrangement

Answer 23

Solitary Fibrous Tumor

Question 24

S100, CD1a, CD207

Answer 24

Pulmonary Langerhans Cell Histiocytosis

Question 25

p53 and p40

Answer 25

squamous cell carcinoma

Question 26

NFR2 inactivaiton

Answer 26

emphysema

Question 27

HLA-DRB1*1501 and *1502.

Answer 27

goodpastures synd

Question 28

Nicotinic acetylcholine receptor variation

Answer 28

Makes smoking more addictive and thus increases the risk of the dz (emphysema)

Question 29

MYC amp

Answer 29

SCLC.

Question 30

napsinA

Answer 30

adenocarcinomas

Question 31

Translocation → fusion gene of NUT and BRD4

Answer 31

NUT Midline Carcinoma | weird bc this combo usu happenes in leukemia

Question 32

TTF1

Answer 32

adenocarcinomas

Question 33

Loss of CDKN2A (3p, 9p) = loss of p16

Answer 33

squamous cell carcinoma

Question 34

KRAS

Answer 34

the worst adenocarcinomas

Question 35

Chr p16 deletion

Answer 35

malig mesothelioma

Question 36

LYST mutation

Answer 36

Chediak-Higashi syndrome

Question 37

Telomerase: TERT, TERC.

Answer 37

Idiopathic Pulmonary Fibrosis (IPF)

Question 38

EBER1 (EBV encoded RNA), or LMP1 (EBV proteins)

Answer 38

Undifferentiated/basaloid nasopharyngeal carcinomas