Neoplasia Flashcards
most common primary intra-ocular tumour in adults
uveal melanoma
most common primary intra-ocular tumour in children
retinoblastoma
Most common malignant lacrimal gland tumour
Adenocystic carcinoma
Most common benign orbital tumour in adults
Cavernous haemangioma
Most common benign orbital tumour in children:
Capillary haemangioma
Most common malignant orbital tumour in children:
Rhabdomyosarcoma
enviromental carcinogenesis
chemicals, radiate, virusees
conjuncitval papilloma
caused by HPV 6 and 11
16 and 18 are high risk carcinoma
EBV
burkitt’s lymphoma
carcinogenesis of HPV
HPV produces the E6 protein which binds to and inactivates p53 leading to
uncontrolled DNA replication
carcinogensis of EBV
EBV produces a protein that makes the cell resistant to apoptosis
xeroderma pigmentosum
Autosomal recessive
o Deficiency in DNA nucleotide excision repair (NER) mechanisms leading to
multiple skin tumours
o Photosensitivity, multiple solar keratoses, skin cancers
neurofirbomatosis
o Autosomal dominant (1:4000)
o Neurofibroma: derived from endoneurium. Spindle cells on histology
o Schwannoma: derived from Schwann cells. Palisaded spindle cells and
myxoid areas
NF1
o Defect in NF1 gene on chromosome 17q
Multiple neurofibromas, cafe-au-lait spots, axillary freckling and risk
of sarcoma
Associated with optic nerve glioma, Lisch nodules, lid neurofibroma,
choroidal naevi, phaeochromocytomas and retinal astrocytoma
NF2
o NF-2 (1:40,000) does not actually cause neurofibromas but causes acoustic
neuroma/schwannoma, meningioma, glioma, combined hamartoma of the
RPE and early cataract. Mutation is at 22q
li-fraumeni syndrome
germ-line mutation of p53
high risk of childhood sarcoma and breast cancer
von hippel lindau syndrome
o Autosomal dominant cancer syndrome
o Mutation on chromosome 3
o Capillary haemangiomata of the retina (aka retinal angiomata), renal cell
carcinoma, phaeochromocytoma, haemangioblastoma of the cerebellum
proto-oncogenes
normal genes that stimulate cell division
tumour suppressor genes
normal genes that inhibit cell division
oncogenes
abnormal/cancerous genes that cause uncontrolled proliferation
benign tumours
can undergo malignant change possibly after acquiring genetic
mutations eg. pleomorphic lacrimal gland adenomas can transform to
adenocarcinoma