Miscellaneous

Question 1

What are sarcomas?

Answer 1

Cancers that arise from mesenchymal (connective tissue) origin

Examples malignant tumours can arise from - cancellous bone, cartilage, fat, muscle, vascular or haemopoietic tissues

Question 2

What do soft tissue sarcomas present as?

Answer 2

Present as a painless, enlarging mass

Question 3

What are 2 risk factors for soft tissue sarcomas

Answer 3

Neurofibromatosis type 1 (genetic condition that causes tumours to grow along your nerves)
Previous radiotherapy

Question 4

When would you consider a sarcoma malignant?

Answer 4

> 5cm
Increasing in size
Painful

Question 5

How would you diagnose a sarcoma?

Answer 5

MRI, followed by needle biopsy

Question 6

What is the treatment for sarcoma?

Answer 6

Excision with wide margins, then radiotherapy

Question 7

What is lymphoedema?

Answer 7

Build-up of lymph somewhere in the body’s tissues, due to obstruction somewhere in body’s lymphatic system

Question 8

What is a main feature of lymphoedema?

Answer 8

Chronic non-pitting oedema due to lymphatic insufficiency

Question 9

What is Milroy disease, and what are the genetic defects?

Answer 9

Milroy disease is a primary congenital lymphoedema, causing lower leg swelling from birth

Autosomal dominant, mutations in VEGFR3, cause lymphatic dysfunction

Question 10

What is the treatment for Milroy disease?

Answer 10

Compression stockings/bandages

Encourage exercise

Question 11

How is filarial infection transmitted, and what does it cause?

Answer 11

Transmitted by 5 genera of mosquito

Causes elephantiasis and hydrocoeles

Question 12

What does an acute filarial infection cause?

Answer 12

Fever, lymphadenopathy, chyluria

Question 13

What is amyloidosis?

Answer 13

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

Question 14

What is AL amyloidosis and what is the pathway to organ failure?

Answer 14

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

Question 15

What is AL amyloidosis associated with?

Answer 15

Myeloma
Waldenstroms
Lymphoma

Question 16

What is the pathway of AL build up for myeloma?

Answer 16

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

Question 17

What organs are affected in AL amyloidosis, and what does it cause in them?

Answer 17

Kidneys, glomerular lesions - proteinuria and nephrotic syndrome
Heart - angina
Nerves - peripheral and autonomic neuropathy
Macroglossia (big tongue)

Question 18

What is the treatment for AL amyloidosis?

Answer 18

Optimise nutrition
Drugs - oral melphalen + prednisolone OR
high -dose IV melphalen + autologous peripheral blood stem cell transplant

Question 19

AA amyloidosis

Answer 19

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

Question 20

What does AA amyloidosis affect?

Answer 20

Kidneys
Liver
Spleen

Question 21

What could an AA amyloidosis patient present with?

Answer 21

May present with proteinuria, nephrotic syndrome, or hepatosplenomegaly

Question 22

What is treatment for AA amyloidosis?

Answer 22

Manage underlying condition

Question 23

What is familial amyloidosis and what is the genetic inheritance type, and defect itself?

Answer 23

Hereditary amyloidosis

Autosomal dominant - mutations in e.g. transthyretin, a transport protein produced by the liver

Question 24

What does familial amyloidosis cause?

Answer 24

Causes a sensory or autonomic neuropathy +- renal or cardiac involvement

Question 25

What is the treatment for familial amyloidosis?

Answer 25

Liver transplant is curative

Question 26

Amyloidosis, diagnosis

Answer 26

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

Question 27

Can you get rid of amyloid deposits?

Answer 27

Theres no way to remove amyloid deposits | If theres extensive damage, organ transplantation can be tried

Question 28

Breast Cancer, what are some risk factors?

Answer 28

``` Family History Genetics - mutations in BRCA1 or BRCA2 Obesity Nulliparity Age Early Menarche Not breastfeeding Late menopause ```

Question 29

What is Ductal carcinoma in-situ (DCIS)?

Answer 29

Tumour cells that grow from wall of the ducts into lumen | If untreated, over time can cross basement membrane, becoming invasive ductal carcinoma

Question 30

What three things can cancer cells cause in DCIS?

Answer 30

1. Migrate along lactiferous ducts, through pore, onto skin (Paget Disease of the Nipple) 2. Inflammation, brings extracellular fluid out through breaks in skin, fluid dries, forms crust over skin surface 3. Release mobility factor - helps cells break and settle between squamous epithelial cells

Question 31

Lobular carcinoma in-situ (LCIS)

Answer 31

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

Question 32

What factor indicates a better breast cancer prognosis?

Answer 32

60-70% of breast cancers are oestrogen recpetor +ve, better prognosis

Question 33

What factor indicates a worse breast cancer prognosis?

Answer 33

30% over express HER2 (growth factor receptor gene), aggressive disease, poorer prognosis

Question 34

What is the main differential diagnosis of breast cancer?

Answer 34

Benign breast disease

Question 35

What is the 1st symptom in breast cancer?

Answer 35

Hard painless lump or swelling, commonly upper and outer part of breast

Question 36

What are 6 symptoms for breast cancer?

Answer 36

1. Hard painless lump, upper and outer part of breast 2. Swelling under armpit, spread to axillary lymph nodes 3. Breast immobile and fixed, due to infiltration, if cancer cells spread into pectoral muscles 4. Dimpling of skin 5. Fibrosis of lactiferous ducts and suspensory ligaments causes retraction 6. Paget disease, itching, redness, crusting and discharge

Question 37

How do you diagnose breast cancer?

Answer 37

Triple assessment for all breast lumps, 1. Clinical examination 2. Histology, FNA (fine needle aspiration) 3. Mammography/ultrasound

Question 38

What are stages 1 to 4 for breast cancer?

Answer 38

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

Question 39

What is the TNM breast cancer staging system?

Answer 39

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

Question 40

What are the 4 different treatment options for stage 1-2 breast cancer?

Answer 40

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)

Question 41

What is the treatment for stage 3-4 breast cancer?

Answer 41

Radiotherapy (+bisphosphonates) - painful bony lesions Tamoxifen for ER+ve Trastuzumab for HER2+ve tumours, with chemo

Question 42

What dose could be a fatal paracetamol overdose in adults?

Answer 42

150mg/kg or 12g in adults may be fatal

Question 43

What are the signs and symptoms of paracetamol overdose?

Answer 43

None initially OR Vomiting and RUQ pain Later - jaundice and encephalopathy from liver damage, and AKI

Question 44

What are the 2 management options for a paracetamol overdose?

Answer 44

G.I. decontamination if present within 4 hours - activated charcoal N-acetylcysteine (I.V. infusion) is the antidote, depends on dose, time and symptoms