Solid Tumours 2 (SLS430)

15 credits

Aim of this module

 This module provides trainees with a detailed understanding of the molecular mechanisms of lung and ovarian cancer and the associated genomic testing. With these exemplars trainees will develop an understanding of the organisation and delivery of a complex cancer genotyping service. They will perform common laboratory methods, interpret genomic results and develop an understanding of the need for additional investigations as well as use of associated targeted therapies. Trainees will build upon previous knowledge gained in the context of relapse, metastasis, resistance, as well as the roles of first and second line therapeutics. Furthermore, this module will increase the knowledge base for applications to monitor disease and use less-invasive sampling strategies. They will consider how this impacts on patient management, personalised medicine and therapeutic options. They will also develop an awareness of common central nervous system (CNS) tumours. Trainees will understand the contribution of germline mutations to cancer and the implications for patients and their families. They will recognize the importance of cross-discipline cancer genomic analysis.

Using lung and ovarian cancer;

  1. Interact with relevant disciplines and apply appropriate approaches for the diagnosis and treatment of example conditions
  2. Recognise the main clinical features and morphological characteristics of lung and ovarian cancer.
  3. Compare the routes of referral of patients for genomic testing from a range of clinical settings.
  4. Apply the appropriate genomic testing strategy set in the context of the patient treatment pathway.
  5. Appreciate the role of ctDNA in diagnosis and monitoring of disease
  6. Interpret and report on the relevant laboratory procedures for the diagnosis and monitoring of the patient.
  7. Understand the assignment of risks and likelihoods based on the results of tumour analysis and the response to chemotherapy.
  8. Describe the implications of the identification of somatic and germline variation in tumour samples for the patient and their family.
Number Work-based learning outcome Title Knowledge
1 1,2,3,4

Select the correct genomic tests for a range of lung and ovarian cancer referrals and sample types

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2 2,4

Perform morphological identification of tumour material for lung and/or ovarian cancer.

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3 4,5,6

Perform and interpret genomic testing to identify single nucleotide variation for patients referred with lung cancer

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4 4,6

Perform molecular investigations for identifying fusion gene translocations which may impact patient management.

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5 6

Use appropriate bioinformatics analysis of genotyping results.

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6 5,6

Perform analyses and interpret genomic results from non-invasive liquid biopsy samples

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7 6,7,8

Prepare a range of diagnostic clinical reports for a lung cancer patient.

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8 6,7,8

Produce a diagnostic report for an ovarian cancer patient which should include germline mutation and appropriate additional information.

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9 1,3,6,

Observe a clinic where a patient is being given results of laboratory tests that include genetic analysis. Reflect on this experience and present to colleagues

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10 1,3,6,8

Assist with the preparation of cases to be discussed and reviewed in an MDT meeting with other healthcare professionals

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You must complete
3 Case-based discussion(s)
3 of the following DOPS / OCEs
Assessment Title Type
Perform morphological assessment on lung and ovarian tissue, demonstrating awareness of cellularity, necrosis and tumour material. DOPS
Perform DNA extraction of suitable samples types other than FFPE material, such as fresh tumour and liquid biopsies. DOPS
Describe and perform technologies suitable for tumour genotyping and identifying fusion gene translocations. DOPS
Perform tumour genotyping analysis using bioinformatics pipelines and associated tools. DOPS
Produce a diagnostic clinical report for a patient with familial ovarian cancer. DOPS
Prepare a draft report for an inappropriate referral received. DOPS
Participate in an MDT meeting with other healthcare professionals OCE
Discuss patient results with a healthcare professional telephone or in person OCE
Discuss implications of receiving an unlabeled sample with a healthcare professional. OCE
Discuss an inappropriate referral with a healthcare professional OCE

Important information

The academic parts of this module will be detailed and communicated to you by your university. Please contact them if you have questions regarding this module and its assessments. The module titles in your MSc may not be exactly identical to the work-based modules shown in the e-portfolio. Your modules will be aligned, however, to ensure that your academic and work-based learning are complimentary.

Learning Outcomes

Using lung and ovarian cancer;

  1. Describe the incidence and biological aetiology of lung and ovarian cancer .
  2. Understand the clinical treatment pathway for patients with a diagnosis of lung or ovarian cancer.
  3. Appraise the risk assessment criteria for the selection of patients for genomic testing.
  4. Apply the appropriate technologies to the analysis of the disease including sequencing technologies and molecular techniques for the monitoring of the development of resistance genomic aberrations
  5. Summarise the importance of a panel based approach and integrating results from different testing strategies for the diagnosis and disease management in the context of mutual exclusivity, sensitising, resistance and germline genomic aberrations.
  6. Explain the use of clinical therapeutics and their role in personalised medicine
  7. Identify the roles and responsibilities of advisory and regulatory bodies, including current clinical trials in the role of approved therapeutics.
  8. Evaluate further testing strategies in the context of disease monitoring, metastasis, relapse and resistant genomic aberrations in cancer.
  9. Understand the importance of epigenetic change and its influence on targeted therapies and outcomes.
  10. Explain the importance of Genetics and other Clinical specialism partnerships for appropriate genomic investigations in the patient pathway.

 

Indicative Content

Pathogenesis

  • Aetiology of lung and ovarian cancers
  • Molecular and underlying mechanisms, including epigenetics
  • Signalling pathways and associated genes
  • Mechanisms of genomic aberrations in lung and ovarian cancer, including relapse, metastasis, and resistance and secondary mutations
  • Associated genomic aberrations and role within diagnosis and disease management
  • Inherited syndromes of lung and ovarian cancers
  • Mechanisms of personalised treatment in lung and ovarian cancer.
  • Epigenetic change e.g. Methylation and its influence on targeted therapies and outcomes and clinical trials using current examples e.g. Gliomas
  • Germline mutations
  • Brief insight into central nervous system tumours, associated genomic testing and therapeutic strategies

 

Design, operation and performance of methods used to investigate genomic diseases

  • Current laboratory techniques and methodologies employed for tumour genotyping in identifying aberrations such as point mutations, deletions, insertions and translocations seen in lung and ovarian cancer.
  • Histopathological sample processing requirements for genotyping and impact on upstream testing
  • The use of protein expression to classify tumours.
  • Extraction methodologies for less-invasive sampling techniques such as liquid biopsies.
  • Modern sequencing technologies employed and troubleshooting including panel based testing and whole genome analysis using both DNA and RNA as analytes.
  • Quality control, validation and verification, external quality assessment schemes
  • Analytical and clinical sensitivity and specificity of these tests
  • Bioinformatics tools, relevant genomic databases, pathways for reporting variants of unknown significance
  • Analysis, interpretation and reporting of genetic alterations in a clinical context
  • Appropriate tests for follow-up cancer samples e.g. liquid biopsies and circulating free tumour DNA Therapeutics available for primary and secondary disease and how these are utilised in the clinical setting.
  • Current best practise guidelines, UKAS accreditation, EQAS
  • Accurate integrated clinical report writing
  • Current nomenclature for reporting genomic findings
  • Potential application of relevant emerging technologies

 

Therapeutics

  • Genomic aberrations seen in lung and ovarian cancer and their role in disease management in the context of predictive and prognostic value
  • Application of current therapeutics to the clinical scenario
  • The use of medical imaging in cancer.
  • Primary and secondary disease monitoring, reflex testing in the context of metastases, resistant genomic aberrations and available therapeutics
  • NICE guidelines and standard of care testing
  • Clinical trials and their role in a diagnostic setting
  • Personalised healthcare. Examples may include: the role of Tyrosine Kinase Inhibitors, detection of hotspot mutations (such as EGFR), intracellular signalling targeted therapy – (such as RAS, BRAF), translocated genes targets (such as ALK, ROS1) in lung cancer and the role of PARP inhibitors in ovarian cancers.
  • Epigenetic change and role within targeted therapies for common CNS tumours.

 

Partnership of Genetics with other clinical specialisms

  • Multi-disciplinary team (MDT) working in Pathology
  • Integrated reporting
  • Role of Clinical Genetics and onward referral
  • Impact of genomics on patients and their families including ethical considerations, including consent
  • Best Practice Guidelines (BPGs), national guidance, clinical trials, advisory and regulatory bodies