Case discussions

10 important questions on Case discussions

What is the epidemiology of melanoma?

5th most prevalent cancer in the netherlands.
20% develops stage IV

What are risk factors for melanoma?

Genetic factors:
mutations: high risk genes 10% -> melanoma families
Polymorphisms: low risk genes 90%    -> sporadic melanoma

What is the clinical definition of familial melanoma?

Melanoma in 2 first degree relatives (one relative with multiple melanoma)
Or melanoma in more than 3 relatives

Other referral criteria:
- individual with 3 or more melanomas
- individual with melanoma < 18 yr
- melanoma and pancreatic cancer in one family
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In what pathway are the genes TERT, POT1, ACD and TERF2IP actief?

Telomere maintenance pathway

What counseling in familial melanoma if they're CDKN2A mutation in family?

Mutation carriers: pancreas screening from 45 years
1st relatives to KGC (presymptomatic  diagnosis)
surveillance 2x/yr from age 12 years (patients, mutation carriers and 1st relatives)
Do not smoke

What counseling in familial melanome if theyre is no CDKN2A mutation in family?

Test rare melanoma genes: CDK4, BAP1, POT1

Familial fulfills clinical definition for familial melanoma
- surveillance 1x yr from age 12 years: patients and1st relatives

What is the classification of melanoma?

cutaneous melanoma
- superficial spreading
- nodular
- lentigo maligna
- acral
mucosal melanoma
uveal melanoma
melanome in non-chronic sun-damaged skin
melanome in sun-damged skin
acral mealnoma

What are treatment options for stage IV melanoma?

Targeted therapy:
BRAF inhibitors -> often resistance
MEK1/2 inhibitors
KIT inhibitors

Immunological treatment:
- anti-CTLA4 = ipilimumab
- anti PD-1 and antiPDL1
- vaccinations
- adoptive cellular therapy

What is te mechanism of ipilimumab?

Blokkeert binding van B7 aan CTLA4
You get activated T cells

higher respones rate

What is BRCA hypermethylering?

silencing of the genes
you get an inflammatory respoesn

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