Childhood Diseases III

Question 1

What is the most common type of lymphangioma?

Answer 1

Cystic hygroma - a cavernous lymphangioma of the neck or axilla.

Question 2

What is ETV6-TRKC?

Answer 2

A tumor marker for congenital infantile fibrosarcoma.

through Ras and PI3k/AKT pathways.

Question 3

What causes congenital infantile fibrosarcoma?

Answer 3

Chromosomal transloations t (12;15)(p13;q25)

Question 4

What is the most common fibrous tumor in infants?

Answer 4

Infantile Myofibromatosis occuring within muscle specific actin.

Question 5

What markers can be used to detect infantile myofibromatisis?

Answer 5

Desmin

Muscle specific actin.

Question 6

What is the frequency of teratoma?

Answer 6

1/20,000 live births with most being sacrococcygeal

Question 7

Where are most teratomas located?

Answer 7

Most are in sacrococcygeal region within girls.

However can also end up in testes or ovaries.

Question 8

What percentage of teratomas are going to be assocated with congenital malformations?

Answer 8

10%

Question 9

What is teh most common solid tumor found in new borns?

Answer 9

Sacrococcygeal teratoma.

Question 10

What is the most common solid congenital malignancy?

Answer 10

Congenital neuroblastoma.

Question 11

Under histlogy what is a characteristic of a teratoma?

Answer 11

All three germ layers are visible under microscopy!

Question 12

What percentage of teratomas will change to malignancy?

Answer 12

10-12%

Question 13

What is the second leading cause of death from diseease in age 5-14?

Answer 13

Childhood malignancy with most in hematopoietic, nervous, and renal systems.

Question 14

Malignant tumor of primitive sympathetic cells within the adrenal medulla or sympathetic ganglia

Answer 14

Neuroblastoma

Question 15

Neuroblastoma makes up what percentage of childhood malignancy?

Answer 15

10%

Question 16

What oncogene is associatged with neuoblastoma?

Answer 16

N-myc

Question 17

In patients below 2 years old how will neuroblastoma present?

Answer 17

Abdominal mass!

sometimes fever and weight loss.

Question 18

If child is older than 2 years with neuroblastoma, what might be seen?

Answer 18

GI complaints
Ascites
Possible respiratory distress from metastasis to lung
Or bone if metastasis.

Question 19

Periorbital swelling/ ecchymosis on first metastasis is a sign of what congenital disorder?

Answer 19

Neuroblastoma.

Common metastatic site.

Question 20

What are the major buzz words of description for neuroblastoma?

Answer 20

Blueberry muffin skin
Small blue round cells.
Rosette structure
Dense core neurosecretory granules

Question 21

Patients with neuroblastoma will have increased concentration of what in blood?

Answer 21

Catecholamines

Question 22

What will a neuroblastoma patient have in the urine?

Answer 22

Increased catecholamine metabolytes:

Vanillylmandelic acid and homovanillic acid.

Question 23

Blood neuron specific enolase upon testing is a sign of what congenital disorder?

Answer 23

Neuroblastoma.

Question 24

What are three comon attributes neuroblastoma has under the microscope?

Answer 24

Small round blue cells
Rosette structures
Dense core neurosecretory granules. (Under EM)

Question 25

What is teh most common primary malignant tumor of the kidney and the 4th most common pediatric malignancy in US?

Answer 25

Wilms tumor

Question 26

What is the incidence rate of Wilms tumor?

Answer 26

1/10,000

Question 27

What percentage of wilms tumors occur before 10 years of age?

Answer 27

95%

Question 28

What percentage of wilms tumors involve both kidneys?

Answer 28

5-10%

Question 29

Wilms tumors is associated with inactivation of what factors?

Answer 29

WT1 and WT2.

Question 30

Wilms tumor WAGR syndrome is associated with what dysfunction?

Answer 30

Germline Deletion of 11p13 gene (WT1) *No iris Genital anomalies Mental retardation

Question 31

Wilms tumor Denys-Drash syndrome is associated with what dysfunction?

Answer 31

WT1 inactivation Early onset of nephropathy Gonadal dysgenesis Gonadoblastoma

Question 32

What percentage of Denys-Drash syndrome patients will have risk of Wilms tumor?

Answer 32

90%

Question 33

Beckwith-Wiedmann syndrome associated with Wilms tumor results in what disorders?

Answer 33

``` WT2 inactivation Causes organomegaly Macroglossia Adrenal cytomegaly. ```

Question 34

What is the most common sarcoma of childhood?

Answer 34

Rhabomyosarcoma! | 5-8% of childhood malignancy.

Question 35

Where does Rhabdomyosarcoma typically show up?

Answer 35

within the head and neck specifically around the eye!

Question 36

What eprcentage of the time will rhabdomyosarcoma appear as embryonal type?

Answer 36

60% | This type has to best prognosis!

Question 37

Which type of rhabdomyosarcoma has the best prognosis?

Answer 37

Embryonal rhabdomyosarcoma.

Question 38

Which type of rhabdomyosarcoma has the worst prognosis?

Answer 38

Pleomorphic Rhabdomyosarcoma.

Question 39

Atrial septal defect can be caused by maternal partaking of what?

Answer 39

Fetal alcohol syndrome.

Question 40

What L/S ratio is associated with neonate RBS?