Familial Tumor Syndromes

Question 1

Autosomal dominant, neurocutaneous disease
Genes: TSC1, chr 9q34, Hemartin
TSC2, chr 16p13.3, Tuberin
Seizures, Autism, mental retardation
Hemartomas within CSF take the form of CORTICAL TUBERS
Retinal glial hemartomas
Renal angiomyolipomas
Cardiac rhadbdomyomas
Cutaneous lesions: Shagreen patches, Ash-leaf patches

Answer 1

Tuberous Sclerosis Complex (TSC)

Question 2

Autosomal Dominant, (vHl)=hemangioglioblasomas of the CNS (cerebellum and retina)
Genes: VHL, chr 3p25.3, (VHL=3 letters) tumor suppressor gene that is involved in regulation of expression of erythropoetin–> Polycythemia
RCC (renal cell carcinoma) (VHL=3letters)
Pheochromomytoma vhL=(Lots of catecholamines)

Answer 2

Von Hippel-Lindau Disease (VHL)

Question 3

Autosomal Dominant 
Common (1-3000) 
Peripheral nerves 
Lisch nodules (pigmented nodules of the iris)
Cafe Au Lait birthmarks on skin

Answer 3

Neruofibromatosis, type 1 (NF1)

Question 4

Autosomal Dominant
Not common
Bilateral schwannomas
Increased meningiomas, ependymomas

Answer 4

Nurofibromatosis, type 2 (NF2)

Question 5

Dysplastic gangliocytoma

Mutation: PTEN gene–>IK3/AKT signaling pathway activity

Answer 5

Cowden syndrome

Question 6

Medulloblastomas

Mutation: TP53 gene

Answer 6

Li-Fraumeni syndrome

Question 7

Medulloblastoma or glioblastoma

Mutations: APC or mismatch repair genes

Answer 7

Turcot syndrome

Question 8

Medulloblastoma

Mutations: PICH gene–> resulting in up-regulation of SHH pathway

Answer 8

Gorlin syndrome