Question 1

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

Accepted Answer

EBV-DNA levels in patients with Hodgkin lymphoma can be used to monitor the efficacy of treatment, as changes in these levels can reflect the tumor burden and response to therapy.

Question 2

Which of the following is associated with chronic myelogenous leukemia?

Accepted Answer

Chronic myelogenous leukemia (CML) is associated with the BCR/ABL1 fusion gene, which is created by a translocation between chromosomes 9 and 22 (the Philadelphia chromosome). The other options are associated with different types of leukemia: t(15;17) is associated with acute promyelocytic leukemia (APL), t(8;14) is associated with Burkitt lymphoma, and PML/RARA fusion gene is associated with acute promyelocytic leukemia (APL).

Question 3

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

Accepted Answer

DNA sequencing allows for the accurate identification of nucleotide sequences, which makes it the most useful method for identifying point mutations anywhere within a DNA segment. Southern blot analysis, PCR, and FISH are all useful for specific applications, but none provide the comprehensive information that DNA sequencing can offer.

Question 4

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

Accepted Answer

DNA amplification and sequencing is the most useful molecular technique for detecting point mutations in hemoglobinopathies. This technique involves amplifying a specific region of DNA and then sequencing the amplified product to identify any mutations. This approach is highly sensitive and specific, and can detect even low levels of mutant DNA in a sample. QPCR, high-resolution melt curve analysis, and RT-PCR can also be useful in detecting mutations, but they are not as specific or sensitive as DNA amplification and sequencing.

Question 5

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

Accepted Answer

qPCR, or quantitative polymerase chain reaction, is the most sensitive technique for detecting low levels of minimal residual disease. PCR, karyotyping, and Southern blot analysis all have varying levels of sensitivity and specificity, but qPCR has become the gold standard due to its high sensitivity and ability to quantify the amount of residual disease present. Karyotyping is not typically sensitive enough to detect low levels of residual disease, with a limit of detection of around 5-10% tumor burden, and Southern blot analysis is not as widely used due to the advent of more advanced molecular techniques.

Question 6

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

Accepted Answer

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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?

Accepted Answer

The multiplex reaction targeting the V, D, and J regions of the immunoglobulin heavy chain is a PCR-based method used to determine clonality in B-cell leukemia/lymphoma.

Question 8

What is the definition of allele?

Accepted Answer

An allele is one of two or more versions of a gene that are inherited from each parent. So, option B is the correct definition of an allele. Option A describes DNA, option C describes mRNA, and option D describes a protein.

Question 9

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

Accepted Answer

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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:

Accepted Answer

The use of a labeled probe to detect and localize specific RNA or DNA sequences in tissue samples is known as Fluorescence In Situ Hybridization (FISH) technique. ASO (allele-specific oligonucleotide) is used for SNP detection, PCR (polymerase chain reaction) is used for amplification of DNA sequences, and qPCR (quantitative PCR) is used to quantify DNA or RNA in a sample.

Question 11

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

Accepted Answer

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Question 12

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

Accepted Answer

Minimal residual disease testing is primarily used in hematopathology to monitor and assess the effectiveness of treatment for leukemia and lymphoma, by detecting small amounts of cancerous cells that may still be present in the patient's blood, bone marrow or lymph nodes even after treatment.

Question 13

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

Accepted Answer

qPCR (quantitative polymerase chain reaction) is a molecular technique used to amplify and detect specific sequences of nucleic acid. It allows for the quantification of the amount of target nucleic acid in a sample, making it useful in monitoring the amount of pathogen-specific nucleic acids in patients with an infectious disease. ASO (allele-specific oligonucleotide) is used to detect specific genetic mutations, FISH (fluorescence in situ hybridization) is used to visualize specific chromosomal regions, and DNA amplification and sequencing can be used for a variety of purposes but does not provide quantitative information about target nucleic acid levels.

Question 14

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

Accepted Answer

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Question 15

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

Accepted Answer

Quantitative polymerase chain reaction (qPCR) is the most appropriate assay for monitoring minimal residual disease because it is highly sensitive and can detect very low levels of genetic material. Karyotyping and Southern blot analysis are not as sensitive and are better suited for identifying large chromosomal abnormalities.

Question 16

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

Accepted Answer

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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?

Accepted Answer

FV and prothrombin mutations are the most common genetic risk factors for deep vein thrombosis. PCR for sickle cell mutation is not typically associated with increased risk of DVT, and BCR/ABL1 and TCR gene mutations are associated primarily with hematologic malignancies rather than thromboembolic events.

Quiz 42: Molecular Analysis of Hematologic Diseases