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Which of the following is a high-resolution HLA typing
result?
C) A*02:12. A*02 would be low resolution, determined at
a) B27
the serological level. A*26:01/A*26:05/A*26:01/A*26:15
b) A*02:02-02:09
is a medium resolution result.
c) A*02:12
d) A*26:01/A*26:05/A*26:01/A*26:15
Which of the following is a likely haplotype from parents
with A25, Cw10, B27/A23, Cw5, B27 and A17, Cw4,B10/A9,
Cw7,B12 haplotypes? A) A25, Cw10, B27 would be inherited together from one
a) A25, Cw10, B27 parent. A25,Cw5. B27 may occur as a result of a recombi-
b) A25, Cw5, B27 nation even, but would be infrequent.
c) A23, Cw4, B12
d) A17, Cw4, B27
Negative for the presence of the test antigen or a score of
Upon microscopic examination, over 90% of cells are
1. Less than 10% of the cells have taken up dye. Cytotox-
translucent after a CDC assay. How are these results scored
icity (dye uptake) will only occur in those cells that carry
according to the ASHI rules?
antigens to the test antibodies.
A theoretical HLA-A*02 allele is a CTC to CTT change at the B) Nucleotide substitutions that change the amino acid
DNA level (leu --> leu). How is this allele written? sequence are indicated by ditterences in the second
a) HLA-A*02:01 group of digits. Those changes in the DNA sequence that
b) HLA-A*02:01:01 do not change the amino acid sequenece (silent or syn-
c) HLA-A2 onymous substitutions) are designated by addition of a
d) HLA-A*02N third group of digits.
Transplant candidates with % PRA activity of more than
A candidate for kidney transplant has a PRA of 75%. How
50% are considered to be highly sensitized. Finding a
might this attect eligibility for immediate transplant?
crossmatch-negative donor will be diflcult in this case.
HLA-A10 is the parent allele of HLA-A26(10). Number
What is the relationship between alleles HLA-A10 and designations of new alleles of a previously defined allele
HLA-A26(10)? with broad specificity (parent allele) are followed by the
number of the parent allele in parenthesis.
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A CDC assay yields an 8 score for sera with the following This is type HLA-A2. The high cytotoxicity (reading>6) in
specificities: A2, A28, and A2, A28, B7, and a 1 score for the wells containing A28 indicates that the cells being
serum with an A2 specificity. What is the HLA-A type? tested have cell surface antigens matching the A28.
The results of an SSP-PCR reaction are the following: lane
1, one band; lane 2, two bands; lane 3, no bands. If the Lane 1 is the expected result if the test allele is not present;
test includes an amplification control multiplexed with the lane 2 indicates the presence of the allele; lane 3 is not
allele-specific primers, what is the interpretation for each interpretable as the amplification control is absent.
lane?
What are the two important checkpoints in the cell division The transition from unreplicated to replicated DNA (G1 to
cycle that are crossed when the regulation of the cell S) and from replicated DNA to cell division (G2 to M) are
division cycle is attected? regulated checkpoints in the cell division cycle.
An EWS-FLI-1 translocation was detected in a solid tumor
by RT-PCR. Which of the following does this result sup-
port?
B) Ewing sarcoma. Ewing sarcoma is associated with the
a) Normal tissue
EWS-FLI-1 t(11;22) translocation
b) Ewing sarcoma
c) Inherited breast cancer
d) Microsatellite instability
Mutations may be present outside of the sequenced area.
Furthermore, mutations in genes coding for factors that
interact with the target protein may attect its function
Mutation detection, even by sequencing, is not definitive
in the absence of mutations in the target gene. In ad-
with a negative result. Why?
dition, epigenetic, post-transcriptional and post-transla-
tional events may attect gene function without changing
the DNA sequence.
Which of the following predict eflcacy of EGFR tyrosine
B) EGFR-activating mutations. Evidence suggests that, un-
kinase inhibitors?
like the HER2 protein, overexpression of the EGFR protein
a) Overexpression of EGFR protein
does not predict eflcacy of EGFR TKI.
b)EGFR-activating mutations
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c) Patient gender
d) Stage of disease
Microdissection enriches the tested sample in tumor cells.
What is the advantage of microdissection of tumor tissue
This increases the sensitivity of testing, as normal cells may
in testing for tumor-specific molecular markers?
interfere with detection of tumor-specific markers.
K-ras and B-raf kinases are on the same signal trans-
duction pathway. Once that pathway is activated through
Why are K-ras activating mutations and B-raf V600E mu-
mutations in the KRAS or BRAF gene, there is no selective
tually exclusive in colon cancer?
pressure to generate further activating mutations in genes
in the same pathway.
Activation-induced cytidine deaminase alters C residues
What enzyme is responsible for continued sequence
so that they base-pair with A instead of G residues, re-
changes in the immunoglobulin heavy chain gene after
sulting in ditterent amino acid substitutions in antibody
gene rearrangement has occurred?
proteins.
Gene rearrangements are not tumor-specific. Therefore,
there will be a background from normal cells in gene
rearrangement tests performed with consensus primers.
Why are translocation-based PCR tests more sensitive
Translocations are tumor-specific. The absence of back-
than IgH, IgL, and T-cell receptor gene rearrangement
ground allows for more sensitive detection of tumor cells.
tests?
Gene rearrangements may be detected with increased
sensitivity using patient-specific primers that will detect
only the gene rearrangement in the tumor cell population.
A PCR test for the Bcl-2 translocation is performed on a
patient with suspected follicular lymphoma. The results The results are positive for the presence of the Bcl-2
show a bright band at 400 bp (amplification control) and translocation, given that the 300 bp translocation specific
another at about 300 bp for this patient. The negative con- product is within the expected size range with the primers
trol has only the 400 bp band. How would you interpret used.
these results?
Which of the following misinterpretations would result
from PCR contamination?
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a) False-positive for the t(15;17) translocation
A) False positive for the t(15;17) translocation. Contami-
b) False-negative for the t(15;17) translocation
nation would result in a false-positive pattern.
c) False-negative for a gene rearrangement
After amplification of the t (12;21) breakpoint by RT-PCR,
the PCR products were loaded and resolved on an agarose If the gel is blank, then the ethidium bromide or SyBr
gel. What might be the explanation for the gel being blank green detection dye was omitted from the procedure.
(no bands, no molecular-weight standard)?
After amplification of the t(12;21) breakpoint by RT-PCR, The visible molecular-weight standard indicates that the
the PCR products were loaded and resolved on an agarose electrophoresis process was adequate. The absence of
gel. What might be the explanation for only the molecu- sample bands suggests an error in the sample prepara-
lar-weight standard being visible? tion or amplification.
After amplification of the t(12;21) breakpoint by RT-PCR,
the PCR products were loaded and resolved on an agarose
gel. What might be the explanation for the molecu- Bands in every lane at 200 bp, even in the reagent blank
lar-weight standard being visible and bands being pre- lane, is an indication of contamination.
sent in every lane at 200 bp, even in the reagent blank
lane?
What is observed on a Southern blot for gene rearrange-
ment in the case of a positive result?
B) Germline bands plus rearranged bands. The re-
a) No bands
arranged bands represent the gene rearrangement in the
b) Germline bands plus rearranged bands.
monoclonal population of tumor cells.
c) Smears
d) Germline bands only
Cyclin D1 promotes passage of cells through the G1 to S
cell division cycle checkpoint. What test detects transloca-
tion of this gene to chromosome 14?
C) t(11;14) translocation analysis (BCL1/IGH). Cyclin D1 is
a) t(14;18) translocation analysis (BCL2, IGH)
encoded by the BCL1 gene located on chromosome 11
b) t(15;17) translocation analysis (PML/RARA)
c) t(11;14) translocation analysis (BCL1/IGH)
d) t(8;14) translocation analysis (MYC/IGH)