Cancer biology Assessment Case study

Assignment Overview

Case study 1: Breast Cancer

Despina, a 55-year-old English teacher, was recently diagnosed with stage III breast cancer. She presented at the doctor with a palpable lump in her left breast, skin dimpling, and occasional pain. During a medical history recording, the patient revealed that her mother was also diagnosed with breast cancer at 65 post-menopausal and her mother’s sister with ovarian cancer.

The clinician asked for a tissue biopsy. Tissue Biopsy confirmed invasive ductal carcinoma (IDC), estrogen receptor-positive (ER+), progesterone receptor-positive (PR+), and HER2-negative (HER2-). The patient’s oncologist recommended a liquid biopsy for comprehensive molecular profiling.

Findings from liquid biopsy:

1. Elevated levels of ctDNA bearing mutations in the PIK3CA gene.
2. Detection of TP53 mutations associated with tumour progression.

In the next appointment, the clinician asks that Despina also bring her 35-year-old daughter for consultation and possibly a blood test.

Questions: choose two questions to complete and delete the two you won’t answer to.

1. Discuss the role of liquid biopsies (circulating tumour DNA) in the diagnosis and management of patients with breast cancer.
2. Based on the diagnosis done on Despina’s tissue biopsy, what would be the most appropriate therapy for the type of breast cancer affecting her and why? Illustrate how liquid biopsy results can help the clinician identify a more targeted therapy for Despina.
3. Explain why it is important for the clinician to explore Despina's family history, and justify why the clinician is interested in getting a blood sample from Despina's daughter. 
4. Compare and contrast the diagnosis of breast cancer using Next Generation Sequencing approaches to traditional immunohistochemistry using tissue biopsy.

Case Study 2: Chronic Lymphocytic Leukaemia (CLL)

Luigi, a 65-year-old male man, is diagnosed with chronic lymphocytic leukaemia (CLL) following routine blood tests showing leucocytosis. He reported fatigue, night sweats, and mild lymphadenopathy. Flow cytometry confirmed CD5+/CD19+ CLL cells, and genetic testing revealed a TP53 mutation. Due to high-risk features, the patient was started on a combination of Ibrutinib and Venetoclax.

After one year of treatment, the patient achieved minimal residual disease (MRD)-negative remission, with a significant reduction in lymph node size and normalization of blood counts. He tolerated the treatment well, with only mild diarrhoea and transient neutropenia. The treating physician discussed further treatment options, including CAR-T cell therapy, in case of relapse.

Questions: choose two questions to complete and delete the two you won’t answer to.

1. What are the mechanisms of action of Ibrutinib and Venetoclax in the treatment of CLL, and how do they compare to traditional CLL chemotherapy (FCR: fludarabine, cyclophosphamide, rituximab)?
2. Summarise the role of TP53 in cancer and the impact of TP53 mutations on CLL cell biology and disease progression. Which different molecular methodologies can identify TP53 mutations for the diagnosis of CLL?
3. Explain what CAR-T cell therapy is, and how it differs from small-molecule inhibitors. What are the advantages of CAR-T cell therapy in relapsed or refractory CLL?
4. Referring to the case study, summarise the key pathological features and diagnostic approaches used for CLL diagnosis, and explain the role of flow cytometry in haematological CLL diagnosis and other relevant haematological cancers.

Assessment Requirements: Summary

This assessment involves analysing two medical case studies—Breast Cancer and Chronic Lymphocytic Leukaemia (CLL), each containing a clinical scenario, diagnostic findings, and a set of four questions. Students must:

Key Requirements

• Select two questions from each case study (four questions total) and delete the ones not answered.

• Provide scientifically accurate, evidence-based explanations relevant to:

  • Diagnostic tools such as liquid biopsies, NGS, flow cytometry, and genetic testing.

  • Molecular markers including ER/PR/HER2 status, PIK3CA, TP53, etc.

  • Therapeutic approaches such as targeted therapy, Ibrutinib/Venetoclax, and CAR-T therapy.

• Link findings from tissue and liquid biopsies to disease interpretation and management.

• Demonstrate understanding of genetic risk, familial predisposition, and clinical decision making.

• Present answers clearly, logically, and using appropriate scientific language.

How the Academic Mentor Guided the Student: Step-by-Step Approach

1. Understanding the Task

The mentor first helped the student break down the long assessment instructions into manageable steps.
This included:

• Reading both case studies carefully

• Identifying clinical features, diagnostic results, and genetic findings

• Deciding which two questions from each case study the student was most confident answering

This ensured the student approached the task strategically and avoided unnecessary complexity.

2. Mapping Out Key Clinical and Molecular Details

Before writing, the mentor guided the student to extract the essential medical information from each case:

Case Study 1 (Breast Cancer)

• Stage III IDC

• ER+/PR+, HER2–

• ctDNA mutations in PIK3CA and TP53

• Strong family history of breast/ovarian cancer

Case Study 2 (CLL)

• TP53 mutation

• CD5+/CD19+ immunophenotype

• Treatment with Ibrutinib + Venetoclax

• MRD-negative remission and potential CAR-T consideration

This step helped the student align the selected questions with the most relevant case information.

3. Selecting the Questions to Answer

The mentor advised choosing the questions that:

• Best matched the student's theoretical understanding

• Allowed integration of the diagnostic data provided

• Could be explained clearly without unnecessary complexity

The student selected the most suitable two questions per case based on comfort and clarity.

4. Structuring Each Answer

For each chosen question, the mentor recommended following a simple scientific structure:

a. Define the concept (e.g., liquid biopsy, TP53, CAR-T)
b. Explain its relevance to the case
c. Link to diagnosis, treatment, or prognosis
d. Conclude with clinical implications

This ensured each answer was concise, clinically meaningful, and aligned with assessment expectations.

5. Ensuring Scientific Accuracy and Clear Justification

The mentor guided the student to:

• Use correct terminology (e.g., “invasive ductal carcinoma,” “ctDNA,” “MRD”)

• Explain mechanisms of action clearly for targeted therapies

• Show understanding of why clinicians consider genetic risk and family history

• Contrast modern diagnostics (NGS, flow cytometry) with traditional methods

This strengthened the analytical depth of each answer.

6. Final Refinement

The mentor reviewed the student’s draft and helped:

• Remove the two unselected questions from each case

• Improve clarity and flow

• Maintain academic tone

• Ensure each answer addressed exactly what the question asked

This step produced a polished, well-structured submission.

Final Outcome and Learning Objectives Achieved

Outcome

The student produced:

• Four clear, well-structured answers aligned with clinical scenarios

• Scientifically accurate explanations connecting diagnostics, molecular findings, and treatment decisions

• A professional, concise submission demonstrating understanding of modern oncological and haematological diagnostics

Learning Objectives Covered

• Understanding molecular and clinical cancer diagnostics (NGS, ctDNA, flow cytometry)

• Interpreting genetic mutations (TP53, PIK3CA) and their clinical implications

• Applying case-based reasoning in oncology and haematology

• Comparing traditional and advanced diagnostic modalities

• Linking molecular findings to targeted therapy decisions

• Understanding hereditary cancer risk and family screening

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