Miscellaneous Flashcards
What are sarcomas?
Cancers that arise from mesenchymal (connective tissue) origin
Examples malignant tumours can arise from - cancellous bone, cartilage, fat, muscle, vascular or haemopoietic tissues
What do soft tissue sarcomas present as?
Present as a painless, enlarging mass
What are 2 risk factors for soft tissue sarcomas
Neurofibromatosis type 1 (genetic condition that causes tumours to grow along your nerves)
Previous radiotherapy
When would you consider a sarcoma malignant?
> 5cm
Increasing in size
Painful
How would you diagnose a sarcoma?
MRI, followed by needle biopsy
What is the treatment for sarcoma?
Excision with wide margins, then radiotherapy
What is lymphoedema?
Build-up of lymph somewhere in the body’s tissues, due to obstruction somewhere in body’s lymphatic system
What is a main feature of lymphoedema?
Chronic non-pitting oedema due to lymphatic insufficiency
What is Milroy disease, and what are the genetic defects?
Milroy disease is a primary congenital lymphoedema, causing lower leg swelling from birth
Autosomal dominant, mutations in VEGFR3, cause lymphatic dysfunction
What is the treatment for Milroy disease?
Compression stockings/bandages
Encourage exercise
How is filarial infection transmitted, and what does it cause?
Transmitted by 5 genera of mosquito
Causes elephantiasis and hydrocoeles
What does an acute filarial infection cause?
Fever, lymphadenopathy, chyluria
What is amyloidosis?
Name of a group of rare, serious conditions, caused by a build-up of an abnormal protein called amyloid in organs and tissues throughout the body
What is AL amyloidosis and what is the pathway to organ failure?
A = amyloidosis L = light chain of immunoglobulin
L chain gets misfolded and deposited
Proliferation of plasma cell clone > amyloidgenic monoclonal immunoglobulins > fibrillar light chain protein desposition > organ failure > death
What is AL amyloidosis associated with?
Myeloma
Waldenstroms
Lymphoma
What is the pathway of AL build up for myeloma?
Plasma cells in BM produce more light chains than heavy chains
Excess light chains leak into blood
So many light chains, some misfold into AL proteins and build up in various tissues
What organs are affected in AL amyloidosis, and what does it cause in them?
Kidneys, glomerular lesions - proteinuria and nephrotic syndrome
Heart - angina
Nerves - peripheral and autonomic neuropathy
Macroglossia (big tongue)
What is the treatment for AL amyloidosis?
Optimise nutrition
Drugs - oral melphalen + prednisolone OR
high -dose IV melphalen + autologous peripheral blood stem cell transplant
AA amyloidosis
A = serum amyloid A
Serum amyloid A is an acute ohase reactant that is secreted by the liver, and goes into the bloodstream when there is inflammation
When inflammation goes on for too long, like in RA, then there’s a lot of serum amyloid A in the blood, and a small proportion of serum amyloid A folds incorrectly into AA amyloids, which end up accumulating within tissues causing amyloidosis
What does AA amyloidosis affect?
Kidneys
Liver
Spleen
What could an AA amyloidosis patient present with?
May present with proteinuria, nephrotic syndrome, or hepatosplenomegaly
What is treatment for AA amyloidosis?
Manage underlying condition
What is familial amyloidosis and what is the genetic inheritance type, and defect itself?
Hereditary amyloidosis
Autosomal dominant - mutations in e.g. transthyretin, a transport protein produced by the liver
What does familial amyloidosis cause?
Causes a sensory or autonomic neuropathy +- renal or cardiac involvement
What is the treatment for familial amyloidosis?
Liver transplant is curative
Amyloidosis, diagnosis
Biopsy of affected tissue
Fat pad biopsy - fat taken from abdomen, sample dyed with Congo Red Staining, makes amyloid take on pink colour, and when it is seen under polarised light, amyloid proteins appear apple green in colour
Can you get rid of amyloid deposits?
Theres no way to remove amyloid deposits
If theres extensive damage, organ transplantation can be tried
Breast Cancer, what are some risk factors?
Family History Genetics - mutations in BRCA1 or BRCA2 Obesity Nulliparity Age Early Menarche Not breastfeeding Late menopause
What is Ductal carcinoma in-situ (DCIS)?
Tumour cells that grow from wall of the ducts into lumen
If untreated, over time can cross basement membrane, becoming invasive ductal carcinoma
What three things can cancer cells cause in DCIS?
- Migrate along lactiferous ducts, through pore, onto skin (Paget Disease of the Nipple)
- Inflammation, brings extracellular fluid out through breaks in skin, fluid dries, forms crust over skin surface
- Release mobility factor - helps cells break and settle between squamous epithelial cells
Lobular carcinoma in-situ (LCIS)
Abnormal cells form in the milk glands (lobules) in the breast. LCIS isn’t cancer. But being diagnosed with LCIS indicates that you have an increased risk of developing breast cancer
Doesn’t invade ducts
Doesn’t cross basement membrane
What factor indicates a better breast cancer prognosis?
60-70% of breast cancers are oestrogen recpetor +ve, better prognosis
What factor indicates a worse breast cancer prognosis?
30% over express HER2 (growth factor receptor gene), aggressive disease, poorer prognosis
What is the main differential diagnosis of breast cancer?
Benign breast disease
What is the 1st symptom in breast cancer?
Hard painless lump or swelling, commonly upper and outer part of breast
What are 6 symptoms for breast cancer?
- Hard painless lump, upper and outer part of breast
- Swelling under armpit, spread to axillary lymph nodes
- Breast immobile and fixed, due to infiltration, if cancer cells spread into pectoral muscles
- Dimpling of skin
- Fibrosis of lactiferous ducts and suspensory ligaments causes retraction
- Paget disease, itching, redness, crusting and discharge
How do you diagnose breast cancer?
Triple assessment for all breast lumps,
- Clinical examination
- Histology, FNA (fine needle aspiration)
- Mammography/ultrasound
What are stages 1 to 4 for breast cancer?
Stage 1, confined to breast, mobile
Stage 2, growth confined to breast, mobile, lymph nodes in ipsilateral axilla
Stage 3, tumour fixed to muscle (but not chest wall), ipsilateral lymph nodes matted/fixed, skin involvement larger than tumour
Stage 4, complete fixation of tumour to chest wall, distant metastases
What is the TNM breast cancer staging system?
T - size of the tumour, whether it has grown in nearby areas
N - degree that cancer has spread to lymph nodes
M - degree cancer has spread to other sites or metastisized
What are the 4 different treatment options for stage 1-2 breast cancer?
Surgery - wide local excision, mastectomy and breast reconstruction, axillary node sample/surgical clearance/sentinel node biopsy
Radiotherapy - after WLE
SE - pericarditis, rib fractures
Chemotherapy - adjuvant chemo improves survival and reduces recurrence
Epirubicin and CMF
Endocrine agents - aim to decrease oestrogen activity
Only used if post-menopausal - Tamoxifen, Anastrozole
Pre-menopausal and ER+ve - ovarian ablation or GnRH analogues (goserelin)
What is the treatment for stage 3-4 breast cancer?
Radiotherapy (+bisphosphonates) - painful bony lesions
Tamoxifen for ER+ve
Trastuzumab for HER2+ve tumours, with chemo
What dose could be a fatal paracetamol overdose in adults?
150mg/kg or 12g in adults may be fatal
What are the signs and symptoms of paracetamol overdose?
None initially
OR
Vomiting and RUQ pain
Later - jaundice and encephalopathy from liver damage, and AKI
What are the 2 management options for a paracetamol overdose?
G.I. decontamination if present within 4 hours - activated charcoal
N-acetylcysteine (I.V. infusion) is the antidote, depends on dose, time and symptoms
