What causes carcinoid syndrome?
Mets in the liver release serotonin into systemic circulation
An 80-year-old man presents with a 4-week history of increasing confusion and diarrhoea. He has lost weight over the last 2–3 months although he is unable to say how much. He has noticed that his clothes are much looser.
His son tells you that he has long-standing ankle oedema and had noticed a mauve discoloration of his face approximately 12 months ago. His only past medical history is an appendicectomy 8 years ago. He had always appeared well and was living independently. Apparently on occasions the episodes of diarrhoea are associated with facial flushing and tachycardia.
On physical examination, he appears frail and cachectic. His BP is 105/80 mmHg, pulse is 85/min and regular. He has a systolic murmur, which is augmented by inspiration, and hepatomegaly 2 cm below the right costal margin.
What is the most appropriate investigation in this case and what is the cause?
Urinary 5-HIAA
Carcinoid syndrome
What are the features of carcinoid syndrome?
Facial flushing
Diarrhoea
Bronchospasm
Hypotension
Right heart valvular stenosis
Cushing’s
Pellagra
What causes pellagra in carcinoid syndrome?
Tryptophan diverted to serotonin by the tumour
How would you investigate carcinoid syndrome?
Urinary 5-HIAA
Plasma chromogranin A y
How do you manage carcinoid syndrome?
Somatostatin analogues e.g octreotide
Cyproheptadine for diarrhoea
What is Cowden syndrome?
Tumour predisposition syndrome associated with PTEN gene mutation
What has the highest risk of development in Cowden syndrome?
Breast Cancer
What can be used to treat adrenal cortical adenocarcinomas?
Mitotane
Which neoadjuvant chemo would you give after surgery in ovarian cancer?
Carboplatin and paclitaxel
What cancer is associated with aniline dyes?
Bladder Cancer
What cancer is associated with primary sclerosing cholangitis?
Cholangiocarcinoma
What cancer is associated with Aflatoxin?
Hepatocellular
What are the majority of colorectal cancers?
Adenocarcinomas
What causes hereditary non-polyposis colorectal cancer?
Mutations in mismatch repair genes: MSH2, MLH1, PMS 1 and 2
Where do tumours most commonly occur in HNPCC?
Proximal part of colon
What other cancers are associated with HNPCC?
Endometrial
Ovarian
Gastric
Urinary tract
Biliary
Brain
Small bowel
What should be done in patients with confirmed HNPCC?
Regular colonscopies
What are the management options for colorectal cancer?
RT for rectal disease
Pre-operative and palliative RT options
Chemotherapy for TNM stage III and above - 5FU and folinic acid for 6 months or 1 week of portal vein 5FU
Surgical options - need prophylactic metro and cephalosporin pre op
What is FAP?
Autosomal dominant
Mutation in APC gene on chromosome 5
What is Gardner’s syndrome?
FAP with osteomas of skull and mandible
Retinal pigmentation
Thyroid cancer
Epidermoid cysts
How is Cowden syndrome inherited?
Autosomal dominant
What causes cowden syndrome?
PTEN mutation
A patient presents with diarrhoea and weight loss. They have oral mucosal papillomas, hamartomatous polyps on colonoscopy, keratoses on the palms and thyroid function is deranged. What is the cause?
Cowden Syndrome
