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
chronic inflammation
chronic lymphocytic infiltrates in the lacrimal gland
associated with Sjogren’s syndrome can develop into lymphoma
intraepithelial neoplasia
actinic keratosis showed
pleomorphism and dysplasia and can become squamous cell carcinoma if they
breach the basement membrane
hamartoma
Non-neoplastic tumour of normal tissues for the site
Typically involve blood vessels and melanocytes
haemangiomas
proliferation of blood vessels
Capillary (small vessel) and cavernous (large vessels with septations) can affect
the eyelids, orbit and choroid
sturge-webder syndrome
encephalo-trigeminal angiomatosis) causes extensive
haemangiomas (phakomatoses). It is a sporadic (not hereditary) mutation in the
GNAQ gene
o Choroidal haemangiomas
o Vascular proliferation in the angle: glaucoma
naevi
abnormal proliferation of melanocytes (neural crest derived cells)
Found in the conjunctiva, iris, choroid and retina
Can occasionally progress to melanoma
Benign features: clear margins, no overlying subretinal fluid, no orange
pigment/lipofuscin
beign astrocytic haematroms
astrocytes forming a matrix of calcification
Associated with tuberous sclerosis (fundal astrocytomas)
Stable round nodule projecting into vitreous
choriostoma
Non-neoplastic tumour of normal (ectodermal) tissues in an abnormal location
include: dermoid, dermolipomas, phakomatous choristoma
dermoid
may be composed of fat, fibrous tissue, hair follicles, sweat glands
(ectodermal elements).
Seen as nodules on the bulbar conjunctiva
Well-defined, white-pale yellow lesions
No malignant potential
May be associated with Goldenhar’s syndrome
phakomatous choristoma
eyelid nodule composed of lens capsular material!
squamous papilloma
includes molluscum contagiosum (poxvirus) and
viral warts (HPV)
basal cell papilloma
appearnce: sessile, pedunculated, papipillary shepd
aka seborrhoeic keratosis
histo: acanthonic proliferation of basal cells, keratin filled cysts
adenoma
benign tumour of glandular tissue
Can arise from eyelid sweat glands, sebaceous glands, meibomian glands
Sebaceous adenomas are commonly seen as a yellow mass at the caruncle
keratocathoma
Rapidly growing but spontaneously resolving tumour of the epidermis
Can mimic an SCC
Nodule that grows over only a few weeks
Elevated, “heaped” shoulder
Central ulcer/crater
Typically resolves within 2-3 months but can leave a scarh
histology of keratocathoma
Central mass of keratin (pink with H&E stain)
Hyperplastic epidermis with clear demarcation between this raised edge and
normal skin surface
Demonstrate hyperkeratosis (of the epidermis) and sometimes also dyskeratosis
(keratinisation within the dermis)
epidermoid cyst
Demonstrate dyskeratosis (purely)
Histologically: keratin-filled cavity within the dermis lined by keratinised xtratified
squamous epithelium
meningiomas
Slow-growing tumours of the meninges
Most commonly detected primary intracranial neoplasms
Most sporadic but may be familial
Associated with NF2 (22q) and MN1 (also on 22q)
intracranial meiningiomas
Intracranial meningiomas cause raised ICP which can cause papilloedema
Meningiomas arising from the olfactory groove or sphenoid can cause
Optic atrophy
CN VI nerve palsies: false localising sign
histopathology of meininingioma
psammoma bodies
basal cell carcinoma
> 90% of malignant eye tumours
Caucasians over 50 years old
assoicaitons with basal cell carcinoma
Sunlight exposure
Gorlin-Goltz syndrome (aka basal cell naevus syndrome). Autosomal dominant
mutation of PTCH gene on 9q
Xeroderma pigmentosa: autosomal recessive, extreme sensitivity to UV light
Albinism: usually autosomal recessive (lack of melanin)
Bazex syndrome: X-linked dominant disorder of hair follicles
Male gender
Arsenic exposure
Immunosuppression
Fair skin/caucasian
appearance of BCCs
Nodular (or solid)
Central ulcer
Rolled edge
Morphoeiform type: scirrhous (hard/fibrous) plaque
Occasionally pigmented
histological types of BCCs
nodular
superfical
infiltrative / scelorising
micronodular
histology of nodular BCCs
well-defined islands of proliferating basal cells with peripheral
palisades. Cystic degeneration can occur (nodulocystic)
histology of superficial BCCs
scaly plaque showing lobules of cells budding into superficial
dermis from the epidermis or localised to the dermal-epidermal junction. There
may be big gaps between the collections of cell
histology of infiltraitive / scelorising
morphoeic clinically. More aggressive. Strands of
tumour cells in a fibrous stroma and ill-defined border with reduced peripheral
palisading
histology of micronodular
more aggressive. Multiple small nodular collections of cells.
squamous papilloma histology
Epithelial acanthosis
Hyperkeratosis
Central fibrovascular core
seborrheic keratosis histology
Lesion above skin surface
Acanthotic proliferation of basaloid cells
Varying degrees of hyperkeratosis
Keratin filled cystic inclusion
inverted follicular keratosis histology
Endophytic proliferation of basaloid, squamous elements
Squamoid eddies
Acantholysis
keratoacanthoma histology
Cup-shaped nodular elevation
Thickened epidermis with islands of well differentiated squamous epithelium
Neutrophil infiltration
Central mass of keratin
