Gremlins

Question 1

t(8:14) is seen in which disease?

Answer 1

8urkitt’s Lymphoma.

“Starry sky” appearance on histology.

Question 2

t(9;22) is characteristic of?

Answer 2

9hillidelphia Chromosome in CML

BCR-ABL responds to Imatinib.

Question 3

t(12;21) is the most common translocation in which disease?

Answer 3

Childhood ALL (the 1s look like LLs)

t(12;21) confers a better prognosis.

Question 4

t(11;14) is seen in?

Answer 4

Mant11e cell lymphoma.

Very aggressive; often present with late stage disease.

Question 5

t(14;18) is seen in?

Answer 5

Follicular lymphoma (has 18 letters).

Question 6

Which chromosomal translocation is associated with AML?

What is a common presentation?

What is seen on histology?

Answer 6

t(15;17)

DIC

Auer rods.

Question 7

Which enzyme is deficient in Acute Intermittent Porphyria?

Which enzyme is the target of treatment and why?

Answer 7

PBG deaminase.

Aminolevulinate synthase is targeted by infusing heme which downregulates ALA synthase. This halts the attack.

Question 8

How is Acute Intermittent Porphyria triggered?

Answer 8

An underlying PBG deaminase deficiency is compounded by increased ALA synthase, typically precipitated by medications, smoking, or puberty.