Skin Cancer

Question 1

How many people have skin cancer?

Answer 1

1 in 5 people in the US

Question 2

Describe Basal Cell Carcinoma (BCC)

Answer 2

Abnormal, uncontrolled growths in the basal layers of the skin
most common, usually not aggressive

Question 3

Describe Squamous Cell Cancer (SqCC)

Answer 3

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)

Question 4

Describe melanoma

Answer 4

Cancer in the melanocytes
most dangerous, can be curable when caught and treated early

Question 5

What are the three treatments for basal cell and squamous cell skin cancer?

Answer 5

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

Question 6

What treatments are available for melanoma?

Answer 6

Surgical excision (excision in the shape of an eye), chemotherapy (immunotherapy, targeted therapy (BRAF and MEK inhibitors)), radiation

Question 7

What genes are associated with hereditary melanoma?

Answer 7

BAP1, BRCA2, CDK4, CDKN2A, MITF, PTEN, RB1

Question 8

What are some red flags of malignant hereditary melanoma?

Answer 8

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)

Question 9

What are the inheritance pattern and associated cancers for CDKN2A?

Answer 9

Autosomal dominant
Melanoma (13-91%), pancreatic (11-58%), neural tumors (rare)

Question 10

What are the management recommendations for CDKN2A?

Answer 10

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)

Question 11

What are the inheritance pattern and associated cancers for CDK4?

Answer 11

Autosomal dominant
Melanoma 74%

Question 12

What are the management recommendations for CDK4?

Answer 12

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)

Question 13

What are the inheritance pattern and associated cancer for BAP1?

Answer 13

Autosomal dominant
BAP1-related dermal lesions (72%), cutaneous melanoma (13%), ocular melanoma (31%), renal cancer (10%), mesothelioma (22%), meningioma (increased)

Question 14

What are the management recommendations for BAP1?

Answer 14

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

Question 15

What are the inheritance pattern and associated cancers for MITF?

Answer 15

Autosomal dominant
Melanoma (7-17%), renal cancer (8%)

Question 16

What are the management recommendations for MITF?

Answer 16

Annual full-body skin exams beginning at age 15
Discuss kidney cancer screening with urology

Question 17

What genes and inheritance patterns are associated with Nevoid Basal Cell Carcinoma (Gorlin syndrome)?

Answer 17

SUFU, PTCH1
Autosomal dominant

Question 18

What features can be seen in Nevoid Basal Cell Carcinoma syndrome (besides basal cell cancer)?

Answer 18

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

Question 19

What are the management recommendations for Nevoid Basal Cell Carcinoma?

Answer 19

Physical exam every 6 months beginning early in life
Baseline heart ultrasound
Ovarian ultrasound at 18 years
Annual dermatologic exams
Referral to medical geneticist

Question 20

What genes and inheritance patterns are associated with Xeroderma Pigmentosum?

Answer 20

Autosomal Recessive
DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC

Question 21

What other clinical manifestations might be found for Xeroderma Pigmentosum?

Answer 21

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

Question 22

What are the management recommendations for Xeroderma Pigmentosum?

Answer 22

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

Question 23

What are some of the safe sun protection practices?

Answer 23

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