Cystic Fibrosis and Follicular Lymphoma

Molecular basis, pathological diagnosis, molecular techniques for diagnosis, treatment and management of cystic Fibrosis and Follicular Lymphoma

Quiz Type

Practice

Subject

Pathology

Level

Level 500

Questions

10 questions

Created By

Prince Essien

Quick Rules

Time limit: 50 minutes
Multiple attempts are not allowed
All questions must be answered to submit

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Question 1 of 10

Question 1

Basic multiple choice Remembering

What is the primary molecular basis of cystic fibrosis?

Mutations in the CFTR gene

Correct

Mutations in the BRCA1 gene

Mutations in the TP53 gene

Infections caused by bacteria

Explanation

Cystic fibrosis is caused primarily by mutations in the CFTR gene, which affects ion transport in epithelial cells. This leads to the characteristic symptoms of the disease.

Question 2

Basic multiple choice Understanding

Which molecular technique is commonly used for diagnosing cystic fibrosis?

DNA sequencing

Correct

Blood typing

Electrophoresis

X-ray imaging

Explanation

DNA sequencing is frequently used to identify specific mutations in the CFTR gene for diagnosing cystic fibrosis.

Question 3

Basic multiple choice Understanding

What is the common treatment approach for patients with cystic fibrosis?

Gene therapy

Correct

Antibacterial antibiotics only

Chemotherapy

Steroid injections

Explanation

Gene therapy is a promising treatment approach for cystic fibrosis, aimed at correcting the underlying genetic defect, in addition to managing symptoms.

Question 4

Basic multiple choice Remembering

Follicular lymphoma is characterized by which type of cellular pattern?

Follicles of abnormal B-cells

Correct

Clusters of T-cells

Single large abnormal cells

Scattered macrophages

Explanation

Follicular lymphoma is characterized by the presence of follicles composed of abnormal B-cells, which can disrupt normal lymphatic function.

Question 5

Basic multiple choice Understanding

A common molecular technique used in diagnosing follicular lymphoma is:

Flow cytometry

Correct

Tissue biopsies only

MRI scans

Ultrasound imaging

Explanation

Flow cytometry is often employed to analyze cell surface markers and diagnose follicular lymphoma by assessing the characteristics of the B-cells.

Question 6

Complex multiple choice Understanding

A 15-year-old patient presents with respiratory distress and reduced pancreatic function. Genetic testing reveals a mutation in the CFTR gene. Which molecular technique would be most appropriate for confirming the diagnosis of Cystic Fibrosis in this patient?

Whole-genome sequencing

Polymerase Chain Reaction (PCR) for CFTR mutations

Correct

Microarray analysis of the complete genome

Western blot analysis of CFTR protein levels

Explanation

Polymerase Chain Reaction (PCR) specifically amplifies regions of the CFTR gene, allowing for targeted mutation analysis, making it the most appropriate technique for confirming Cystic Fibrosis. Whole-genome sequencing and microarray analysis are too broad and may not specifically confirm CFTR mutations. Western blotting, while useful for assessing protein levels, does not confirm the genetic diagnosis.

Question 7

Complex multiple choice Understanding

A 52-year-old patient is diagnosed with Follicular Lymphoma after presenting with lymphadenopathy. The oncologist orders additional molecular profiling to guide treatment. In this context, which specific molecular test is most likely to yield information critical for treatment decisions?

BCL2 gene rearrangement analysis

Correct

Complete blood count (CBC)

Flow cytometry for cell surface markers

Bone marrow aspiration and biopsy

Explanation

BCL2 gene rearrangement analysis is crucial in Follicular Lymphoma as it identifies the genetic signature associated with tumor proliferation and can guide targeted therapies. A CBC provides general health information but does not specifically inform treatment decisions for lymphoma. Flow cytometry identifies specific cell markers but does not provide molecular genetic information, while a bone marrow biopsy is more to assess staging rather than molecular profiling for treatment guidance.

Question 8

Case based multiple choice Understanding

[Case Scenario] A 45-year-old male patient presents with symptoms of lymphadenopathy and significant weight loss. After a thorough examination, a biopsy is performed revealing follicular lymphoma with a confirmed t(14;18) chromosomal translocation via molecular techniques. This genetic alteration is well-known due to its implications in the progression of the disease. Question: What is the molecular consequence of the t(14;18) translocation that primarily drives the development of follicular lymphoma?

The translocation leads to overexpression of the BCL2 oncogene, resulting in inhibition of apoptosis.

Correct

The translocation causes the formation of a fusion protein that promotes cell differentiation.

The translocation decreases the production of chemokine receptors, leading to reduced lymphocyte trafficking.

The translocation results in increased expression of tumor suppressor genes leading to cellular senescence.

Explanation

The t(14;18) translocation in follicular lymphoma results in the overexpression of the BCL2 gene, which plays a critical role in preventing programmed cell death, thus contributing to the cancer's pathogenesis.

Question 9

Case based multiple choice Understanding

[Case Scenario] During a follow-up appointment, a 60-year-old man diagnosed with follicular lymphoma is assessed for his response to treatment. The oncologist decides to utilize molecular techniques such as PCR and FISH to closely monitor the disease and detect any residual disease post-therapy. This patient has a known presence of the BCL2/IgH gene rearrangement. Question: How do molecular techniques like PCR and FISH contribute to the management of follicular lymphoma in this patient?

They allow for the quantification of tumor-specific gene rearrangements to assess treatment response and detect minimal residual disease.

Correct

They are used primarily to improve patient prognosis by identifying all potential mutations in the genome.

They enhance patient treatment by directly targeting rapidly dividing cells through RNA analysis.

They serve to eliminate the need for clinical symptom assessment and imaging studies.

Explanation

Molecular techniques such as PCR and FISH are essential in assessing response to treatment in follicular lymphoma by detecting tumor-specific rearrangements that indicate disease presence, allowing for precise management adjustments based on minimal residual disease.

Question 10

Case based multiple choice Understanding

[Case Scenario] In a clinical setting, a 34-year-old female presents with a persistent cough, difficulty breathing, and recurrent respiratory infections. Her family history reveals that her brother was diagnosed with cystic fibrosis (CF) at a young age. As part of her evaluation, genetic testing is performed to identify mutations in the CFTR gene. The result shows the presence of a F508del mutation. Question: Based on the molecular basis of cystic fibrosis, what is the most likely underlying mechanism of her symptoms related to the CFTR mutation?

The mutation leads to abnormal protein folding resulting in reduced chloride transport across epithelial cells.

Correct

The mutation directly causes an overproduction of mucus due to increased chloride transport.

The mutation causes an increase in sodium ion absorption, contributing to dehydration of airway surfaces.

The mutation leads to an autoimmune response targeting epithelial cells.

Explanation

The presence of the F508del mutation in the CFTR gene leads to improper folding of the CFTR protein, which is crucial for chloride ion transport in epithelial cells. This results in thickened mucus in respiratory and pancreatic ducts, leading to the patient's symptoms.