The Molecular Hematology Gym

Question 1:

The vast majority of BCR-ABL breakpoints in CML are positioned within the major breakpoint cluster spanning from exon 13-15, and these code for the p210 protein - True/False?

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Answer 1:
True. See Krumbholz et al.

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Question 2:

BCR-ABL fusions in ALL usually occur in the minor BCR (m-BCR) in intron 1, resulting in a p190 protein - True/False?

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Answer 2:
True. See Krumbholz et al.

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Question 3:

e13a2 = b2a2 in older nomenclature

e14a2 = b3a2 in older nomenclature

True/False?

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Answer 3:

True. See Hijiya et al.

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Question 4:

The e13a2 (b2a2)/ e14a2 (b3a2) fusion transcripts encode for a 210-kDa protein, whereas the e1a2 encodes for a 190-kDa protein, and the e19a2 encodes for a 230-kDa protein.

True/False?

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Answer 4:

True. See Verma et al.

The e13a2 (b2a2)/e14a2 (b3a2) fusion transcripts encode for a 210 kDA protein, whereas the e1a2 encodes for a 190 kDA protein, and the e19a2 encodes for a 230 kDa protein.

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Question 5:

The first chromosomal translocation to be identified in acute myeloid leukemia was that of chromosome 8 and 21.

True/False?

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Answer 5:

True.

Rowley 1998.
Rowley 1973

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Question 6:

The ETO gene stands for (eight, twenty one).

True/False?

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Answer 6:
True
Rowley 1998
pg 507

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Question 7:

With regards to BCR-ABL fusions, which exons span the major breakpoint cluster region (M-bcr)?

a. e1

b. e2

c. e3

d. e4

e. e5

f. b1

g. b2

h. b3

i. b4

j. b5

k. a1

l. a2

m. a3

n. a4

o. a5

Answer: f-j

See Melo; The diversity of BCR-ABL fusion proteins and their relationship to leukemia phenotype

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   Question 8:

According to Professor Weatherall, why was severe form of thalassemia first described in the USA, where they were very uncommon, and not in a Mediterranean country where they must have occurred at a very high frequency?

a. Access to technologies

b. Severe thalassemia would not have been recognized as a distinct entity in the Mediterranean countries since the presentation overlaps with malaria (severe anemia and splenic enlargement)

Answer:

b (pg 18, Thalassemia - The Biography)

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