retinoblastoma

Question 1

where is RB1 gene

Answer 1

13q14

Question 2

features of 13q deletion syndrome

Answer 2

intellectual disabilities, dysmorphic fatures, GI issues, and FTT

Question 3

first hit in RB

Answer 3

loss of RB1

Question 4

common change second hit in RB

Answer 4

TP53 is intact but p53 is inactivated by over expression of other genes

Question 5

Non heritable RB- what % of retinoblastoma cases, how many eyes usually involved, median age at d

Answer 5

60%, unilateral, 2 years

Question 6

heritable RB- what % of retinoblastoma cases, how many eyes usually involved, median age at d

Answer 6

40%, EITHER unilateral or bilateral, not always FH, age depends but usually <12 months

Question 7

unilateral retinoblastoma- how many patients, how many are heritable

Answer 7

most patients (2/3) and most are not heritable

Question 8

in bilateral Rb, how many are familial vs de novo

Answer 8

75% de novo

Question 9

define quadrilateral retinobalstoma

Answer 9

both eyes, pineal (third) then a second midline tumor in suprasellar or parasellar

Question 10

staging of rb

Answer 10

group the eye, stage patient. group A-e refers to likelihood of saving eye, stage s about mets (risk of losing life)