Case 1: A strong family history of cancer

• This family is likely to have a mutation in BRCA1. This is a germ line mutation that increases the risk of ovarian, breast and colon cancer in females, and prostate and colon cancer in males. BRCA2 mutations have a greater association with pancreatic cancer and male breast cancer.
  
• The mutation is inherited as an autosomal dominant pattern with variable penetrance, and if her mother has a mutation, the risk of carrying the gene for this patient is 50%.
  
• The strong family history warrants referral to a cancer geneticist for testing and consideration of more intensive surveillance.

See Chapter 8.

Case 2: Fertility preservation after treatment

• Treatment for breast cancer cannot be delayed to allow a pregnancy to complete. She should have a discussion relating to prognosis and likely outcome of treatment and effects on fertility and options available for preservation of ovarian function.
  
• Pregnancy in a woman previously treated for breast cancer does not appear to have an adverse effect on the risk of breast cancer recurrence. Should it recur during a pregnancy there will be issues about whether to treat the cancer during a pregnancy or to terminate.
  
• There is a high probability that the planned chemotherapy will suppress her ovarian function, but this recovers in at least 70% of patients under 35 years. She could consider fertilised embryo cryopreservation but this would take at least 1 month to complete. This may not be appropriate for a single woman. All other methods should be considered experimental but include storage of mature oocytes and ovarian slice autotransplantation.

See Chapter 29.

Case 3: A man with cough and swelling of the face

• Obstruction of the superior vena cava (SVC) is the clinical expression of obstruction of blood flow through the vessel. Characteristic symptoms and signs may develop quickly or gradually and is caused by compression, invasion, or thrombosis in the superior mediastinum.
  
• Symptoms and signs may be aggravated by bending forward, stooping, or by lying down.
  
• Treatment is directed at the underlying cause, and prognosis of patients with SVC obstruction strongly correlates with the prognosis of the underlying disease. Options for treatment include chemotherapy, radiotherapy, endovascular stenting, thrombolysis and surgery. In this case systemic chemotherapy following stenting would be most appropriate.
  
• In this case, the preceding cough suggests a lung primary and 50% of patients presenting with SVC obstruction have small cell lung cancer.

See Chapter 13.

Case 4: A woman with leg weakness

• The finding of bilateral UMN signs should be considered spinal cord compression until proved otherwise. Spinal cord compression from metastatic cancer remains an important source of morbidity despite the fact that with early diagnosis, treatment is effective in 90% of patients.
  
• Malignant spinal cord compression is defined as the compressive indentation, displacement, or encasement of the spinal cord’s thecal sac by metastatic or locally advanced cancer. Compression can occur via posterior extension of a vertebral body mass, resulting in compression of the anterior aspect of the spinal cord, or through anterior or anterolateral extension of a mass arising from the dorsal elements or invading the vertebral foramen, respectively. Intramedullary spinal cord metastases produce oedema, distortion and compression of the spinal cord parenchyma, resulting in symptoms and signs that are similar to epidural spinal cord compression.
  
• Any neoplasm capable of metastasis or local invasion can produce malignant spinal cord compression. Response to non-surgical therapy and the duration of survival following treatment can vary considerably among different histologic tumour types. The degree of pre-treatment neurologic dysfunction is the strongest predictor of treatment outcome. Ambulation can be preserved in more than 80% of patients who are ambulatory at presentation. Paraplegia, quadriplegia and loss of bowel or bladder function are potential consequences of cord compression if it is diagnosed late or left untreated, and once lost, neurologic function cannot be regained in the majority of patients.
  
• The key to successful management is a heightened awareness of signs and symptoms, specifically newly developed back pain or motor dysfunction, leading to early diagnosis and treatment.
  
• All patients require an urgent MRI and should be discussed with a neurosurgeon, started on dexamethasone and considered for radiotherapy.

See Chapter 13.

Case 5: An old man with confusion

• This patient is likely to have brain metastases, which are a common complication in cancer patients and an increasingly important cause of morbidity and mortality. In adults, metastases are the most common cause of brain tumours, five to 10 times more frequently than primaries. In children, the most common sources are sarcomas, neuroblastoma and germ cell tumours. Certain tumours almost never metastasise to the brain including oesophagus, oropharynx, prostate and non-melanoma skin cancers.
  
• Brain metastases develop when tumour cells originating in tissues outside the nervous system spread secondarily to directly involve the brain, and develop in 10–30% of adults and 6–10% of children with cancer. The number of cases may be increasing as a result of the increased ability of MRI to detect small metastases.
  
• Most patients receive effective palliation with systemic chemotherapy and radiotherapy.
  
• Metastases may involve the brain parenchyma, the cranial nerves, the blood vessels (including the dural sinuses), the dura, the leptomeninges and the inner skull table. Most common are intraparenchymal metastases.
  
• A CT or MRI (contrast enhanced) may be diagnostic and in some cases a biopsy may be required to exclude a primary tumour.
  
• Management includes steroids for peritumoural oedema, anti­convulsants, treatment of venous thromboembolic disease (20% of patients with brain metastases), surgery (single and multiple me­tastases), whole brain radiotherapy, stereotactic radiotherapy and chemotherapy.

See Chapter 14.

Case 6: An incidental finding on chest CT

• Pulmonary metastases from sarcomas or other distinctive non-pulmonary cancers are usually easy to diagnose, but solitary metastasis from breast or colon, or squamous cell cancer metastasis from head and neck primary tumours, are difficult to distinguish from primary lung cancer.
  
• Patients with two or more pulmonary nodules can be considered to have metastases.
  
• A biopsy with comparison of the primary neoplasm and the lung nodule is required; electron microscopy or specific molecular or genetic characteristics may identify more precisely the origin of such cancers; monoclonal antibodies can assist in discriminating between primary bronchogenic adenocarcinoma and colon carcinoma metastatic to the lung; characteristics of amplified K-ras oncogene expression present in the primary tumour can be used to identify pulmonary metastases; flow cytometry and DNA analysis have been used to describe primary carcinomas of the lung and to distinguish them from metastases.
  
• Prognostic indicators generally associated with prolonged post-resection survival include resectable tumour, longer disease-free interval, longer tumour doubling time, fewer numbers of metastases and solitary metastasis. Neither age nor gender should be considered as prognostic factors.
  
• The approaches to treatment include surgery with a generous wedge resection, radiotherapy, chemotherapy, endocrine therapy for breast or prostate cancer, and novel therapies.

See Chapter 14.

Case 7: A man with right upper quadrant pain

Related posts:

Presenting problems in a patient with cancer Paraneoplastic syndromes Adverse effects of treatment End of life care Germ cell tumours Myeloma

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