Deck 14: Molecular Oncology

Question 1

Which of the following translocations results in the overexpression of the intact translocated gene as opposed to formation of an abnormally functional fusion protein?

A) t(X;18) in synovial sarcoma
B) t(2;13) in rhabdomyosarcoma
C) t(9;22) in chronic myelogenous leukemia
D) t(14;18) in B-cell chronic lymphocytic leukemia

Answer 1

t(14;18) in B-cell chronic lymphocytic leukemia

Question 2

Mutations in the VHL gene are associated with what condition?

A) Pediatric neuroendocrine tumors
B) Von-Hippel Landau syndrome
C) Ataxia telangiectasia
D) Li-Fraumeni syndrome

Answer 2

Von-Hippel Landau syndrome

Question 3

Malignant tissue originating in one organ (primary) site is isolated from a different organ. How would this malignancy be described?

A) Benign
B) Necrotic
C) Metastatic
D) Apoptotic

Answer 3

Metastatic

Question 4

This test is used to determine if the mismatch repair system is functioning normally.

A) Translocation of DNA between chromosomes
B) Microsatellite instability
C) Clonality of immunoglobulin gene rearrangements
D) Overexpression of Her2/neu

Question 5

Which of the following targets is tissue specific but not necessarily tumor specific?

A) PML/RARA
B) EWS/FLI-1
C) EGFR
D) BCR/ABL

Question 6

Fusions of FKHR and the paired box genes (PAX3 and PAX7) are frequently found in what tumors?

A) Adenoma
B) Synovial sarcoma
C) Adenocarcinoma
D) Rhabdomyosarcoma

Question 7

This gene is frequently tested with K-ras and works on the same pathway downstream of K-ras in colon cancer.

A) HER2/neu
B) B-raf
C) N-ras
D) EGFR

Question 8

Which of the following is a clinical test to help determine optimal therapeutic use of EGFR inhibitors in lung cancer?

A) EGFR overexpression by immunohistochemistry
B) EGFR activating mutation analysis by PCR
C) EGFR deletion by FISH
D) Chromosome 7 translocation analysis by karyotyping

Question 9

What are the two checkpoints of the cell division cycle?

A) M to G1 and G1 to G2
B) G1 to G2 and M to S
C) G1 to S and G2 to M
D) S to G1 and G2 to M

Question 10

Leukemia and lymphoma are:

A) Hematological malignancies
B) Solid tumors
C) Types of carcinoma
D) Always benign

Question 11

A patient's diagnosis is ataxia-telangiectasia. The physician wants to know if the patient has a mutation associated with increased risk for developing cancer. Which of the following genes should be examined for mutations in this patient?

A) BRCA1
B) ATM
C) TP53
D) EWS

Question 12

Mutations in this gene are found in inherited multiple endocrine neoplasia (MEN) syndromes.

A) EGFR
B) SSX
C) RET
D) VHL

Question 13

These genes form a dimeric enzyme that catalyzes decarboxylation of isocitrate into alpha-ketoglutarate.

A) K-ras, N-ras
B) BRCA1, BRCA2
C) TP53, ATM
D) IDH1, IDH2

Question 14

What type of mutations usually occur in tumor suppressor genes in malignant cells?

A) Gain of function
B) Loss of function
C) Activating
D) Amplifications

Question 15

Herceptin (trastuzumab) therapy works best on what tumors?

A) Colon cancer expressing K-ras
B) Lung cancer with EGFR mutations
C) Breast cancer with no HER2/neu expression
D) Breast cancer with HER2/neu overexpression

Question 16

A patient with a family history of breast cancer wants to know her risk of having breast cancer. Which of the following genes should be analyzed in this patient?

A) BRCA1
B) Von Hippel-Lindau
C) N-myc
D) K-ras

Question 17

Which of the following laboratory methods will give the most detailed information regarding whether TP53 mutations are present in a patient's tumor cells?

A) Direct sequencing
B) Pulsed field gel electrophoresis
C) Polymerase chain reaction
D) Southern blot

Question 18

Specific translocations involving the EWS gene at 22q12 are useful for diagnosis of what types of tumors?

A) Lymphoma
B) PNET/Ewing's sarcoma
C) Adenocarcinoma
D) Adenoma

Question 19

Mutations in which of the following oncogenes are the most common oncogene mutations seen in human cancers?

A) HER2/neu
B) EGFR
C) K-ras
D) EWS

Question 20

What do the products of the HER2/neu and epidermal growth factor receptor (EGFR) genes have in common?

A) Found on the cell surface and, when bound to their substrate, activate proliferation
B) Intracellular proteins that are critical components of the mitogen-activated protein kinase pathway
C) Stop cell division in the G1 phase of the cell cycle in cells that have damaged DNA
D) Phosphorylate proteins and pause the cell cycle at G1 or G2 so that DNA damage can be repaired

Question 21

A PCR assay is performed on a patient with presumptive mantle cell lymphoma using primers against the immunoglobulin heavy chain gene and the cyclin D1 (CCND1) gene. Capillary gel electrophoresis was used for product detection, and the patient did not have a detectable PCR product. All controls were acceptable. Which of the following is the correct interpretation of this result?

A) The patient is positive for a t(11;14).
B) The patient is negative for a t(11;14).
C) Mantle cell lymphoma is definitively ruled out.
D) The results are a false negative because inappropriate primers were used.

Question 22

A patient is suspected of having follicular lymphoma, and his physician would like additional laboratory tests performed to confirm or rule out the diagnosis. Which of the following tests should be performed?

A) T-cell receptor gene rearrangement clonality
B) t(9;22) translocation
C) t(14;18) translocation
D) t(11;14) translocation

Question 23

T-cell receptor gene rearrangements were analyzed by PCR using forward and reverse primers complementary to the V_1 and J_1 regions, respectively, of the T-cell receptor gene region. The products were separated by polyacrylamide gel electrophoresis and bands visualized using ethidium bromide. The lane corresponding to the patient had a sharp band. All controls were acceptable. How is this result interpreted?

A) The patient has a monoclonal (monotypic) T-cell population.
B) The patient is normal and has polyclonal T cells.
C) This is a false positive because of amplification of immunoglobulin genes.
D) The assay should be repeated because the wrong primers were used.

Question 24

Which of the following translocations is associated with acute promyelocytic leukemia (APL)?

A) t(1;19)
B) t(15;17)
C) t(11;14)
D) t(8;14)

Question 25

What would be observed in the event of loss of heterozygosity?

A) Two alleles at a heterozygous locus
B) One allele at a homozygous locus
C) One allele at a heterozygous locus
D) Two alleles at a homozygous locus

Question 26

Which of the following translocations can be used to monitor treatment for chronic myelogenous leukemia?

A) t(9;22)
B) t(11;14)
C) t(8:14)
D) t(9;11)

Question 27

A patient is assessed for B-cell clonality by examining the immunoglobulin heavy chain gene rearrangements using PCR with primers complementary to the variable and joining regions of the immunoglobulin heavy chain gene. When the products are resolved by gel electrophoresis, the patient lane has a smear and does not have a sharp band. Controls were all acceptable. This result is interpreted as which of the following?

A) The patient does not have a detectable B-cell clone.
B) The patient has a B-cell clone.
C) The patient lacks B cells.
D) The methodology described is not appropriate for this analysis.

Question 28

Gene expression patterns are now used to characterize tumor types. What method is appropriate for analysis of expression of many genes simultaneously?

A) Northern blot
B) GE arrays
C) CGH arrays
D) Slot blots

Question 29

What genes are most likely mutated in inherited colon cancer with microsatellite instability?

A) FLT3, NPM
B) BRCA1, BRCA2
C) MLH1, MSH2
D) RET, n-myc

Question 30

Five one- and two-base repeat loci were tested for instability, comparing cancer tissue to reference normal tissue from the same patient. Three of the five loci showed additional alleles in the cancer cells compared to the normal cells. How is this interpreted?

A) High instability (MSI-H)
B) Low instability (MSI-L)
C) Stability (MSS)
D) This result is not informative.