Deck 42: Molecular Analysis of Hematologic Diseases

Question 1

A Hodgkin lymphoma patient is admitted for treatment. What would be the benefit in performing an EBV-DNA test on him?

A) It would identify the cause of the Hodgkin lymphoma.
B) Because the patient is immunocompromised, it would identify an opportunistic pathogen.
C) It would help monitor the efficacy of his treatment.
D) It would help rule out other types of lymphomas.

Answer 1

It would help monitor the efficacy of his treatment.

Question 2

Which of the following is associated with chronic myelogenous leukemia?

A) BCR/ABL1 fusion gene
B) t(15;17)
C) t(8,14)
D) PML/RARA fusion gene

Answer 2

BCR/ABL1 fusion gene

Question 3

Which of the following methods would be most useful for identifying point mutations anywhere in the DNA segment?

A) Southern blot analysis
B) PCR
C) DNA sequencing
D) FISH

Answer 3

DNA sequencing

Question 4

Which of the following molecular techniques is useful in detecting the point mutations in a suspected hemoglobinopathy:

A) DNA amplification and sequencing
B) qPCR
C) High-resolution melt curve analysis
D) RT-PCR

Question 5

In reference to detecting minimal residual disease, which of the following is true?

A) PCR, karyotyping, and Southern blot analysis are equally sensitive and specific.
B) qPCR is most sensitive for detecting low levels of tumor burden.
C) Karyotyping is capable of detecting a 0.1% tumor burden.
D) Southern blot analysis has 100% sensitivity and specificity for detecting aberrant proteins formed as a result of the genetic mutation.

Question 6

Explain the impact of a positive test for HTLV-1 in a lymphoma patient.

Question 7

A multiplex reaction that targets conserved regions within the variable (V), diversity (D), and joining (J) regions of the immunoglobulin heavy chain can be used to determine clonality in which neoplasm?

A) CML
B) AML
C) B-cell leukemia/lymphoma
D) Human T-lymphocytic virus type 1

Question 8

What is the definition of allele?

A) A fundamental substance of heredity that cells use to catalog, express, and propagate information
B) The two versions of a gene that are inherited from each parent
C) A messenger molecule that translates the DNA code to induce protein production
D) The functional unit composed of amino acids

Question 9

Explain the central doctrine of molecular biology using proper nomenclature. Define each phase.

Question 10

The use of a labeled probe to detect and localize specific RNA or DNA sequences in tissue samples describes which of the following techniques:

A) ASO
B) PCR
C) qPCR
D) FISH

Question 11

Explain why molecular testing is essential not only in identifying disorders, such as cancer, but also during the course of a disease.

Question 12

Minimal residual disease testing is a molecular application for which hematopathology?

A) Leukemia/lymphoma
B) Sickle cell disease
C) Cancer
D) Gene mutations

Question 13

Which molecular technique is useful in monitoring the amount of pathogen-specific nucleic acids in patients with an infectious disease?

A) ASO
B) FISH
C) DNA amplification and sequencing
D) qPCR

Question 14

Give the advantages of PCR over Southern blot and advantages of Southern blot over PCR.

Question 15

Which of the following assays would be most appropriate for monitoring minimal residual disease?

A) Karyotyping
B) Southern blot analysis
C) qPCR

Question 16

Name and compare two molecular methods used to detect mutations associated with sickle cell disease.

Question 17

A 23-year-old female is admitted to the local hospital with a deep vein thrombosis. In addition to initial laboratory workup, which of the following should be investigated as possible causes of the DVT?

A) PCR for sickle cell mutation
B) FV and prothrombin mutations
C) BCR/ABL1 fusion gene mutation
D) TCR gene mutations