Biochem

Question 1

T(14,18)

Answer 1

Follicular Lymphoma
BCL-2 (inhibits apoptosis)
Waxing and waining Lymph Node size

Question 2

T(8,14)

Answer 2

Burkitts Lymphoma
C-Myc
Starry Skye
EBV
Jaw/abdomen

Sheets of lymphocytes and “tingible” macrophages

Question 3

T(11,14)

Answer 3

Mantle Cell Lymphoma
CyclinD1
Very aggressive

Question 4

T(11,18)

Answer 4

Marginal Zone Lymphoma
Chronic inflammation association
Sjrogen, gastritis,
“MALT lymphoma”

Question 5

T(15,17)

Answer 5

Acute Promyelocytic Leukemia
M3-AML
All Trans-Retinoic Acid
Auer rods

Question 6

T(9,22)

Answer 6

Philadelphia Chr
CML
BCR-ABL

Question 7

T(11,22)

Answer 7

Ewing Sarcoma
<15y/o
Small blue cell cancer
Diaphysis of long bones
Fusion protein

Question 8

Dpoly III

Answer 8

5:3 polymerase
3:5 exonuclease

Question 9

Dpoly 1

Answer 9

5:3 exonuclease

Question 10

Friedrich Ataxia

Answer 10

GAA
Gait ataxia(spinocerebellar)
Degeneration of posterior columns dorsal root ganglia
IHSS
Kyphoscoliosis
Pes cavus
DM

Question 11

GSDs

Answer 11

Polysaccharides in cytosol of hepatocytes, muscle (McArdle), or lysosome (Pompes)

Question 12

VonGierke

Answer 12

Glu-6-Phosphatase

Liver & Kidney

Hepatomegaly
Lactic acidosis
Hyperuricemia
Hyperlipidemia

Question 13

Cori

Answer 13

1,6 Debranching

Muscle & Liver

Ketotic Hypoglycemia
Hypotonia

Question 14

HERS

Answer 14

Glycogen Phosphorylase

Liver

Question 15

McArdle

Answer 15

Muscle Glycogen phosphorylase

No lactate
Rhabdomyolysis

Question 16

Pompes

Answer 16

Acid 1,4 Glucosidase or Alpha-1,6-…
Glycogen in Lysosomes

Normal glucose
Cardiomegaly
Respiratory failure

Early death

Question 17

Anderson’s

Answer 17

Alpha-1,4 & 1,6- Branching enzyme

Liver & Spleen
Cirrhosis

Death by 2