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)