Case discussions
10 important questions on Case discussions
What is the epidemiology of melanoma?
20% develops stage IV
What are risk factors for melanoma?
mutations: high risk genes 10% -> melanoma families
Polymorphisms: low risk genes 90% -> sporadic melanoma
What is the clinical definition of familial 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?
What counseling in familial melanoma if they're CDKN2A mutation in family?
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?
Familial fulfills clinical definition for familial melanoma
- surveillance 1x yr from age 12 years: patients and1st relatives
What is the classification of 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?
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?
You get activated T cells
higher respones rate
What is BRCA hypermethylering?
you get an inflammatory respoesn
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