Skin Cancer Flashcards
How many people have skin cancer?
1 in 5 people in the US
Describe Basal Cell Carcinoma (BCC)
Abnormal, uncontrolled growths in the basal layers of the skin
most common, usually not aggressive
Describe Squamous Cell Cancer (SqCC)
Abnormal, unchecked growth in the squamous layer of the skin
Can grow rapidly if not caught early, typically not life-threatening
can be found in other areas of the body (ex: anus)
Describe melanoma
Cancer in the melanocytes
most dangerous, can be curable when caught and treated early
What are the three treatments for basal cell and squamous cell skin cancer?
Surgical excision (only if unlikely to reoccur), Moh’s Procedure (removes cancer layer by layer and examines under microscope until no more cancer, used if higher risk of recursion), Radiation
What treatments are available for melanoma?
Surgical excision (excision in the shape of an eye), chemotherapy (immunotherapy, targeted therapy (BRAF and MEK inhibitors)), radiation
What genes are associated with hereditary melanoma?
BAP1, BRCA2, CDK4, CDKN2A, MITF, PTEN, RB1
What are some red flags of malignant hereditary melanoma?
Early age of diagnosis (under 50)
Multiple primaries
2+ affected family members including patient (3+ if in an area with lots of sun exposure)
Melanoma in areas not usually exposed to the sun (bottom of foot, vaginal)
What are the inheritance pattern and associated cancers for CDKN2A?
Autosomal dominant
Melanoma (13-91%), pancreatic (11-58%), neural tumors (rare)
What are the management recommendations for CDKN2A?
Total body skin examinations 3-6 months beginning in late adolescence
Self-examination at regular intervals
Reinforcement of routine sun protective behaviors
Biopsies of skin lesions (same as general pop)
Consider annual MRI/MRCP and or EUS beginning at age 40 (pancreatic)
What are the inheritance pattern and associated cancers for CDK4?
Autosomal dominant
Melanoma 74%
What are the management recommendations for CDK4?
Total body skin examinations 3-6 months beginning in late adolescence
Self-examination at regular intervals
Reinforcement of routine sun protective behaviors
Biopsies of skin lesions (same as general pop)
What are the inheritance pattern and associated cancer for BAP1?
Autosomal dominant
BAP1-related dermal lesions (72%), cutaneous melanoma (13%), ocular melanoma (31%), renal cancer (10%), mesothelioma (22%), meningioma (increased)
What are the management recommendations for BAP1?
Annual dilated eye exams beginning at age 11
Annual full-body skin exam beginning at age 20
Annual physical exams
Annual abdominal ultrasounds and abdominal MRI every 2 years
What are the inheritance pattern and associated cancers for MITF?
Autosomal dominant
Melanoma (7-17%), renal cancer (8%)
What are the management recommendations for MITF?
Annual full-body skin exams beginning at age 15
Discuss kidney cancer screening with urology
What genes and inheritance patterns are associated with Nevoid Basal Cell Carcinoma (Gorlin syndrome)?
SUFU, PTCH1
Autosomal dominant
What features can be seen in Nevoid Basal Cell Carcinoma syndrome (besides basal cell cancer)?
Macrocephaly, cleft lip/palate, polydactyly, eye anomalies, motor delay, skeletal malformations, frontal bossing, coarse facial features, facial milia, jaw keratocysts, palmar pits, cardiac/ovarian fibromas
What are the management recommendations for Nevoid Basal Cell Carcinoma?
Physical exam every 6 months beginning early in life
Baseline heart ultrasound
Ovarian ultrasound at 18 years
Annual dermatologic exams
Referral to medical geneticist
What genes and inheritance patterns are associated with Xeroderma Pigmentosum?
Autosomal Recessive
DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
What other clinical manifestations might be found for Xeroderma Pigmentosum?
Severe UV sensitivity (onset 1-2 years old)
Dry, pigmented skin with poikiloderma
Epitheliomas, squamous cell carcinoma, and melanoma of UV-exposed areas of the eye by age 10
Progressive neurologic abnormalities (hyporeflexia, microcephaly, intellectual impairment, hearing loss, spasticity, ataxia, seizures)
High risk for basal cell, squamous cell carcinoma, melanoma
What are the management recommendations for Xeroderma Pigmentosum?
Avoid UV exposure (sun and in the home)
Vitamin D supplements
Dermatologic exams every 3-12 months
Frequent self-exams
Frequent eye exams
Routine neurologic examination
Periodic audiograms
What are some of the safe sun protection practices?
Find/create shade
Wear long sleeves, long pants, skirts, dresses
Hat with wide brim (cover face, ears, back of neck)
Sunglasses
Sunscreen (at least SPF 15, unexpired, reapply often)
Limit time in midday sun
Watch UV index
Avoid sunlamps and tanning parlors