What is screening?
Identifying apparently healthy people at increased risk of a disease/condition
-never 100% sensitive or specific
What are the Wilson and Jungner criteria?
Principles for screening programmes;
- disease sufficiently common
- natural history known
- early treatment beneficial
- diagnostic confirmatory test
- acceptable & affordable
How are neonates screened in the UK?
All babies tested between 5-8 days
- 3mm dry blood samples
What is included in the current UK programme for screening babies?
PKU Congenital hypothyroidism Sickle cell & Hb disorders CF MCADD New; MSUD, IVA, GA1, homocystinuria
What does phenylketonuria cause if untreated?
Severe mental retardation
-prognosis good if treated early
What does congenital hypothyroidism cause if untreated?
Severe developmental delay
What does sickle cell disease cause if untreated?
20% die within 2 years
-acute infection, stroke, splenic sequestration, etc.
What is the treatment if babies are diagnosed with sickle cell disease?
Prophylactic penicillin initiated
Who is screened for breast cancer and how often?
50-70 year olds
-3 yearly mammography
What is the ‘triple assessment’ for breast cancer screening?
RADIOGRAPHY - mammography, ultrasound, MRI
PATHOLOGY - biopsy
What do most breast tumours arise from?
What is LCIS?
Lobular Carcinoma In-Situ
-often picked up accidently
What is DCIS?
Ductal Carcinoma In-Situ
-often calcifies & picked up on x-ray
What is the most common type of breast cancer?
Invasive ductal carcinoma
How does breast cancer typically spread?
What is typically the 1st lymph node bed for breast tumours?
The axilla (sentinel node)
Where do soft tissue tumours occur?
Connective tissue, muscle, fat, blood vessels, etc.
What are the commonest sites of malignant soft tissue tumours? (2)
Thigh and retroperitoneum
What are the clinical clues for soft tissue tumours?
Deep to fascia
>5cm & enlarging
What does “oma” suggest?
What does “sarcoma” suggest?
What is the possible diagnosis for small round blue cell tumour?
Sarcoma (eg. Ewing’s)
Germ cell tumour
What are the features of a malignant tumour?
What is the general prognosis for sarcomas?
50% alive at 5 years
What is a GI stromal tumour (GIST)?
Tumour of smooth muscle of bowel wall
- involves cell membrane receptor CD117
- treated with Imatinib
What is the most fatal malignancy in men?
Lung cancer (8%)
How many deaths does lung cancer cause per year?
What are the 2 histological types of lung cancer?
- Non-small cell carcinomas (NSCLC)
- Small cell carcinoma (SCLC)
What is the normal bronchus lined with?
Pseudostratified collumnar epithelium.
with ciliated and mucous cells
What metaplastic change occurs in the bronchus lining?
Pseudostratified collumnar epithelium»_space; stratified squamous (METAPLASIA)
-may»_space; irreversible change to neoplastic cell that proliferates more successfully (DYSPLASIA)
His lung cancer diagnosed?
- Bronchial brushing
- Fine needle aspiration
What are the main types of non-small cell carcinomas? (3)
- Squamous carcinoma
- Undifferentiated large cell carcinoma
What are the main stages of lung cancer development?
» squamous metaplasia
How does NSCLC squamous carcinoma produce distant metastases?
Neoplastic cells breach basement membrane
»invasive squamous carcinoma
» infiltrates lymphatic and blood vessels
What are the main features of NSCLC squamous carcinoma?
- Resembles squamous epithelium
- Desmosomes link cells
- ~90% in smokers
- More central than peripheral
What causes hypercalcaemia in squamous lung carcinoma?
Parathyroid hormone related peptide.
What are the main feature of NSCLC adenocarcinoma?
- Glandular cells
- ~80% in smokers
- Atypical alveolar cell hyperplasia
What are the main features of SCLC?
- Most malignant (lung tumours)
- Neurosecretory granules with peptide hormones (e.g. ACTH)
- ~99% in smokers
- May have metastases before presentation
What are paraneoplastic syndromes?
Rare disorders triggered by an altered immune system response to a neoplasm.
What are common presenting features linked to primary lung tumours? (4)
- Chest pain
What are common presenting features linked to secondary lung tumours? (4)
- Neurological signs
- SVCO (sup vena cava obstruction)
- Heart failure
What are common presenting features linked to systemic lung tumours? (3)
- Weight loss
What investigations are carried out for suspected lung cancer? (5)
- Blood tests
How is lung cancer treated? (4)
- Supportive care
What is the prognosis for lung cancer?
-usually inoperable due to late presentation