Disorders

Question 1

CML

Answer 1

Chronic Myelogenous Leukemia
9:22
Philadelphia chromosome
Treated with TKI

Question 2

EWS

Answer 2

Ewing’s Sarcoma
Solid tumor cancer
11:22

Question 3

ALL

Answer 3

Acute lymphoblastic leukemia
9:22
Found in bone marrow
High lymphoblast production pushes out other normal cell production

Question 4

FL

Answer 4

Follicular Lymphoma
B cell
14:18 — BCL2
Defective BCL2 prevents apoptosis
Indolent

Question 5

PML

Answer 5

Promyelocytic Lymphoma
15:17
PML and RARA genes for DNA binding proteins, translocation causes a loss of function in both

Question 6

MCL

Answer 6

Mantle Cell lymphoma
11:14
BCL1
CCDN1

Question 7

BL

Answer 7

Burkitt Lymphoma
8:14
C-myc

Question 8

RMS

Answer 8

Rhabdomyosarcoma
2:13 or 1:13

Question 9

Breast Cancer

Answer 9

HER2/neu
Ch 17
Tyrosine phosphotase
Herceptin

Question 10

Tumor Protein 53

Answer 10

Tp53
Ch 17
Causes MSI
In 50% of all cancers

Question 11

Breast Cancer

Answer 11

BRCA1/2 - DNA repair genes
Ch 17/14

Question 12

Alpha Thalassemia

Answer 12

Hemaglobinopathy
Ch 16
HBA1 and 2
Excess beta chains

Question 13

PWS

Answer 13

Prader Willi Syndrome
Ch 15
Paternal defective

Question 14

AS

Answer 14

Angelman Syndrome
Ch 15
Maternal defective

Question 15

KRAS

Answer 15

Solid tumor
Ch 12
Interfere MapK pathway

Question 16

Beta Thalessemia

Answer 16

Hemaglobinopathy
Ch 11
HBB GENE

Question 17

Prothrombin

Answer 17

Hemaglobinopathy
Ch 11
Aka Factor 2
Can’t make prothrombin

Question 18

ATM

Answer 18

Ataxia telangiesctasia
Ch 11
ATM gene

Question 19

EGFR

Answer 19

solid tumor
Ch 7
Help with treatment options

Question 20

CF

Answer 20

Cystic Fibrosis
Ch 7
CFTR

Question 21

HC

Answer 21

Hemachromatosis
Ch 6
HFE gene
C282Y and H63D most common mutation
Affects iron storage

Question 22

HD

Answer 22

Huntingtons disease
Ch 4
CAG expansion
38-86 diseased

Question 23

Factor V Leiden

Answer 23

Hemaglobinopathy
Ch 1
Mutation in exon 10 1691 a to g

Question 24

MTHFR

Answer 24

Hemaglobinopathy
Ch 1
Homocysteine to methionine

Question 25

FRAGILE X

Answer 25

Ch X CGG repeats FMR1

Question 26

MD

Answer 26

Muscular Dystrophy Ch X Deletion in dystrophin