Cancer originating from the epithelial cells lining the colon or rectum, most commonly an adenocarcinoma; fourth most common cancer in the UK
Aetiology
Risk factors
Increasing age
Male gender
Family history
Inflammatory bowel disease
Diet rich in fat and meat and low in fibre
Smoking, excess alcohol intake
Diabetes
Atherosclerotic disease
Genetic associations
Hereditary nonpolyposis colorectal cancer (HNPCC) - a DNA mismatch repair gene, mutation of the HNPCC gene leads to defects in DNA repair, such as Lynch syndrome
Lynch syndrome - late onset, < 100 polys, ascending colon more commonly affected, other cancers associated e.g. uterine, gastric
Adenomatous polyposis coli (APC) - a tumour suppressor gene, mutation of the APC gene results in growth of adenomatous tissue, such as Familial Adenomatous Polyposis (FAP)
FAP - early onset, > 100 polys, 100% risk of developing cancer anywhere in colon, also associated risk of desmoid tumours and thyroid carcinomas
Pathophysiology
Most colorectal cancers develop via a progression of normal mucosa to colonic adenoma (colorectal ‘polyps’) to invasive adenocarcinoma
Polyps are often an incidental finding - all visible lesions should be removed by endoscopic mucosal resection as all are premalignant, and patient should undergo lifelong surveillance after resection
A minimum of 3 separate genetic defects have to occur to allow the progression from adenoma to carcinoma - oncogene activation, loss/mutation of tumour suppressor genes, loss/suppression of genes involved in DNA repair pathway
Clinical presentation
Can preset from positive result from bowel screening program (home FOB for people 50-74 every 2 years), urgent GP referral, or as an emergency presentation (e.g. perforation)
Common clinical features
Change in bowel habit
Rectal bleeding
Weight loss (usually only if associated metastasis)
Abdominal pain
Symptoms of iron deficiency anaemia
Right sided cancers
Abdominal pain
Iron-deficiency anaemia
Palpable mass in RIF
Often present late
Left sided and rectal cancers (majority)
Rectal bleeding
Change in bowel habit
Tenesmus
Palpable mass in LIF or on PR exam
Investigations
Colonoscopy - gold standard
Staging - biopsy, CT chest/abdo/pelvis, MRI for rectal cancers