Genetics

Question 1

Degrees of consanguinity with a known pathogenic/likely pathogenic variant in a cancer susceptibility gene that will prompt investigation?

Answer 1

1st and 2nd

Question 2

Age of diagnosis in RCC that will prompt investigation?

Answer 2

46 or less

Question 3

Focality of tumors that will prompt investigation?

Answer 3

Bilateral or multifoical

Question 4

Number of first or 2nd degree relatives with RCC will prompt investigation?

Answer 4

1 or more

Question 5

RCC deficient in which 2 enzymes will prompt investigation?

Answer 5

Succinate dehydrogenase (SDH)
Fumarate Hydratase (FH)

Question 6

Multiple chromophobes, oncocytoma or oncocytic hybrid may lead you to believe that the patient has what kind of syndrome?

Answer 6

Birt-Hogg-Dube syndrome

Question 7

AML of the kidney and clear cell probably has what gene?

Answer 7

Tuberous sclerosis complex

Question 8

Major features of VHL Disease?

Answer 8

1. Hemangioblastomas of the retina, spine, or brain
2. Clear cel RCC diagnosed <40 years of age or multiple bilateral ccRCC tumors diagnosed at any age.
3. Adrenal or parangaglioma
4. Paraganglioma of the abdomen, thorax, or neck
5. Retinal angiomas

Question 9

The retina, spine or brain may have _______________. VHL

Answer 9

Hemangioblastomas

Question 10

Clear cell RCC diagnosed at what age? VHL

Answer 10

40 or less

Question 11

Multiple or bilateral ccRCC diagnosed at what age? VHL

Answer 11

at any age

Question 12

Adrenal or _______________.VHL

Answer 12

paraganglioma

Question 13

Abdomen, thorax, neck may have?VHL

Answer 13

Paraganglioma

Question 14

Retina may have _______. VHL

Answer 14

Hemangioblastoma

Question 15

Endolymphatic _____________ VHL

Answer 15

sac tumors

Question 16

Papillary cystadenomas of the ____________ and ______________. VHL

Answer 16

epididymis and broad ligament

Question 17

Cystadenoma or neuroendocrine tumor or multiple cysts of the _______________. VHL

Answer 17

pancreas

Question 18

Major feature of tuberous sclerosis?

Answer 18

Renal AML
Cardiac rhabdomyoma
Cortical dysplasias (tubers and cerebral white matter migration lines)
Angiofibromas 3 or more or fiborous cephalic plaque
Hypomelanotic macules
Lymphangioleiomyomatosis
Multiple retinal nodular hamartomas
Shagreen patch
Subependymal giant cell astrocytoma
Subependymal nodules
Ungual fibromas

Question 19

If there is a family member with an early diagnosis, when should screening begin?

Answer 19

10 years prior to the youngest one who had Ca

Question 20

Treatment of choice of BHDS?

Answer 20

Nephron sparing whenever possible

Question 21

Treatment of choice of HLRCC?

Answer 21

TOTAL RADICAL NEPHRECTOMY

Question 22

Treatment of choice of HPRC?

Answer 22

Nephron sparing whenever possible

Question 23

Treatment of choice of Tuberous sclerosis?

Answer 23

Nephron sparing whenever possible

Question 24

Treatment of choice VHL masses?

Answer 24

Nephron sparing whenever possible