Ch. 502 - Retinoblastoma & Ch. 505.1 - Hemangiomas

Question 1

The most common benign tumors of infancy

Answer 1

Hemangiomas

Question 2

Hmeangiomas occur in approx ___% of term infants

Answer 2

5-10

Question 3

Risk of hemangioma is 3-5x higher in boys vs girls

Answer 3

Girls

Question 4

The risk for hemangiomas is doubled in term vs preterm

Answer 4

Preterm

Question 5

Risk for hemangioma is higher in offspring of women who had

Answer 5

Chorionic villus sampling

Question 6

Hemangiomas grow rapidly within ___ year/s

Answer 6

1

Question 7

Slowing of growth of hemangioma is noted within

Answer 7

Next 5 years after year 1

Question 8

Involution of hemangioma takes place at ___ y/o

Answer 8

10-15

Question 9

More than 50% of all hemangiomas are located in the

Answer 9

Head and neck

Question 10

T/F Most hemangiomas are solitary

Answer 10

T

Question 11

Presence of more than 1 hemangioma increases the likelihood of

Answer 11

Visceral hemangiomas

Question 12

Primary site of visceral involvement of hemangiomas

Answer 12

Liver

Question 13

Other sites of visceral hemangiomas besides the liver

Answer 13

Brain, intestine, lung

Question 14

Infantile hemangiomas can be diff. from other lesions by the expression of

Answer 14

GLUT1

Question 15

T/F Most hemangiomas require no therapy

Answer 15

T

Question 16

Common complication of hemangioma that leads to secondary infection

Answer 16

Ulceration

Question 17

Large hepatic hemangiomas or hemangioendotheliomas may result in

Answer 17

Hepatomegaly, anemia, thrombocytopenia, and high-output heart failure

Question 18

Characterized by rapidly enlarging lesion, thrombocytopenia, microangiopathic haemolytic anemia, and coagulopathy as a result of platelet andRBC trapping and activation of the clotting system within the vasculature of the hemangioma

Answer 18

Kasabach-Merritt Syndrome

Question 19

T/F Kasabach-Merritt syndrome is associated with infantile hemangiomas but not with kaposiform hemangioendotheliomas

Answer 19

F, other way around

Question 20

T/F Midline hemangioma in the lumbosacral area indicates the need for an MRI to search for underlying asymptomatic neurologic abnormalities

Answer 20

T

Question 21

MC intraocular tumor in children

Answer 21

Retinoblastoma (Rb)

Question 22

Rb progresses to metastatic disease and death in ___% of children worldwide

Answer 22

> 50

Question 23

Rb accounts for ___% of all pediatric malignancies

Answer 23

4

Question 24

Median age of diagnosis of Rb

Answer 24

2 y/o

Question 25

More than 90% of Rb cases are diagnosed in children by what age

Answer 25

Younger than 5 y/o

Question 26

T/F Majority of Rb are unilateral

Answer 26

T, 66-75%

Question 27

T/F Bilateral Rb is more common in older children

Answer 27

F, younger particularly less than 1 y/o

Question 28

T/F Bilateral Rb is always heritable

Answer 28

T

Question 29

T/F There is a possible risk of Rb in children conceived by in vitro fertilization

Answer 29

T

Question 30

Hereditary vs Sporadic: Diagnosed at a younger age

Answer 30

Hereditary

Question 31

Hereditary vs Sporadic: Multifocal

Answer 31

Hereditary

Question 32

Hereditary vs Sporadic: Unilateral

Answer 32

Sporadic

Question 33

Hereditary vs Sporadic: Unifocal

Answer 33

Sporadic

Question 34

Hereditary vs Sporadic: Loss of function of RB1 gene

Answer 34

Both

Question 35

Hereditary vs Sporadic: 2 mutational events

Answer 35

Both

Question 36

Hereditary vs Sporadic: First mutation through germinal cells then second mutation subsequently in somatic retinal cells

Answer 36

Hereditary

Question 37

Hereditary vs Sporadic: 2 mutations occur in somatic retinal cells

Answer 37

Sporadic

Question 38

RB1 gene is located on what chromosome

Answer 38

13q14

Question 39

RB1 gene encodes for

Answer 39

Retinoblastoma protein, a tumor suppressor protein

Question 40

Model of oncogenesis in which 2 mutational events are required for tumor development (as in Rb)

Answer 40

Knudson's "two-hit" model of oncogenesis

Question 41

T/F All first-degree relatives of children with known or suspected hereditary Rb should have retinal exam

Answer 41

T

Question 42

Cell formation found histologically in Rb tumors

Answer 42

Flexner-Wintersteiner rosettes

Question 43

Why Rb tumors have necrotic and calcified areas

Answer 43

Tend to outgrow their blood supply

Question 44

Endophytic vs exophytic Rb: Arise from the inner surface of the retina

Answer 44

Endophytic

Question 45

Endophytic vs exophytic Rb: Grow from the outer retinal layer

Answer 45

Exophytic

Question 46

Endophytic vs exophytic Rb: Can cause retinal detachment

Answer 46

Exophytic

Question 47

Endophytic vs exophytic Rb: Vitreous seeding

Answer 47

Endophytic

Question 48

Type of Rb tumor that grows intraretinally and remain flat

Answer 48

Diffuse infiltrating type

Question 49

Type of Rb tumor that can cause iris neovascularization

Answer 49

Diffuse infiltrating type

Question 50

T/F Rb tumors can be both endophytic and exophytic

Answer 50

T

Question 51

Means by which Rb tumors can spread

Answer 51

Direct extension, hematogenous, lymphatic

Question 52

Route by which Rb can spread to the CNS

Answer 52

Choroid > optic nerve > lamia cribrosa > CNS

Question 53

Rb classically presents with ___

Answer 53

Leukocoria

Question 54

Often the initial presenting complaint in patients with Rb

Answer 54

Strabismus

Question 55

T/F Majority of Rb can be detected by routine ophtha screening in the context of a positive family history

Answer 55

F, only approx 10%

Question 56

Characteristic ophtha finding in Rb

Answer 56

Chalky, white-gray retinal mass with a soft friable consistency

Question 57

T/F Imaging studies are diagnostic for Rb

Answer 57

F

Question 58

T/F Biopsy is done to confirm Rb

Answer 58

F, contraindicated!

Question 59

Rb disease in which both eyes and the pineal region is involved

Answer 59

Trilateral Rb

Question 60

Trilateral Rb is seen in ~___% of patients with hereditary Rb

Answer 60

60

Question 61

T/F Metastatic disease is often present at diagnosis

Answer 61

F, rarely present

Question 62

Treatment of Rb is determined by

Answer 62

Size and location of tumors

Question 63

Primary goal of Rb treatment

Answer 63

CURE

Question 64

Secondary goal of Rb treatment

Answer 64

Preserving vision and the eye itself; decreasing risk of late side effects (mainly secondary malignancies)

Question 65

Indication for enucleation in Rb

Answer 65

No potential for salvage of useful vision (unresponsive and/or recurrent)

Question 66

Treatment for bilateral Rb

Answer 66

Chemoreduction + focal therapy (laser photocoagulation or cryotherapy

Question 67

Treatment for large Rbs

Answer 67

Multiagent therapy, VEC (vinc, etop, carboplatin)

Question 68

Treatment for large Rb if multi agent chemo fails

Answer 68

External-beam irradiation

Question 69

T/F In general, Rb has poor prognosis

Answer 69

F, poor only if Rb has spread outside the eye

Question 70

Routine ophtha exam in children with Rb should continue until

Answer 70

Older than 7 y/o

Question 71

T/F Trilateral Rb is universally fatal

Answer 71

T

Question 72

Germline RB1 mutations are at significant risk for development of second malignancies, especially

Answer 72

1) Osteosarcoma 2) Soft tissue sarcomas 3) Malignant melaoma

Question 73

Factors that increase risk of second malignancy in Rb

Answer 73

1) Germline RB1 mutation 2) Radiation therapy

Question 74

Adverse of effects of radiation therapy in Rb

Answer 74

1) Second malignancy 2) Cataracts 3) Orbital growth deformities 4) Lacrimal dysfunction 5) Late retinal vascular injury