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Path Exam III > Childhood Diseases III > Flashcards

Childhood Diseases III Flashcards

1
Q

What is the most common type of lymphangioma?

A

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

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2
Q

What is ETV6-TRKC?

A

A tumor marker for congenital infantile fibrosarcoma.

through Ras and PI3k/AKT pathways.

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3
Q

What causes congenital infantile fibrosarcoma?

A

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

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4
Q

What is the most common fibrous tumor in infants?

A

Infantile Myofibromatosis occuring within muscle specific actin.

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5
Q

What markers can be used to detect infantile myofibromatisis?

A

Desmin

Muscle specific actin.

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6
Q

What is the frequency of teratoma?

A

1/20,000 live births with most being sacrococcygeal

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7
Q

Where are most teratomas located?

A

Most are in sacrococcygeal region within girls.

However can also end up in testes or ovaries.

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8
Q

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

A

10%

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9
Q

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

A

Sacrococcygeal teratoma.

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10
Q

What is the most common solid congenital malignancy?

A

Congenital neuroblastoma.

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11
Q

Under histlogy what is a characteristic of a teratoma?

A

All three germ layers are visible under microscopy!

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12
Q

What percentage of teratomas will change to malignancy?

A

10-12%

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13
Q

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

A

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

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14
Q

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

A

Neuroblastoma

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15
Q

Neuroblastoma makes up what percentage of childhood malignancy?

A

10%

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16
Q

What oncogene is associatged with neuoblastoma?

A

N-myc

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17
Q

In patients below 2 years old how will neuroblastoma present?

A

Abdominal mass!

sometimes fever and weight loss.

18
Q

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

A

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

19
Q

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

A

Neuroblastoma.

Common metastatic site.

20
Q

What are the major buzz words of description for neuroblastoma?

A

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

21
Q

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

A

Catecholamines

22
Q

What will a neuroblastoma patient have in the urine?

A

Increased catecholamine metabolytes:

Vanillylmandelic acid and homovanillic acid.

23
Q

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

A

Neuroblastoma.

24
Q

What are three comon attributes neuroblastoma has under the microscope?

A

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

25
Q

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

A

Wilms tumor

26
Q

What is the incidence rate of Wilms tumor?

A

1/10,000

27
Q

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

A

95%

28
Q

What percentage of wilms tumors involve both kidneys?

A

5-10%

29
Q

Wilms tumors is associated with inactivation of what factors?

A

WT1 and WT2.

30
Q

Wilms tumor WAGR syndrome is associated with what dysfunction?

A

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

31
Q

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

A

WT1 inactivation
Early onset of nephropathy
Gonadal dysgenesis
Gonadoblastoma

32
Q

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

A

90%

33
Q

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

A 
WT2 inactivation
Causes 
organomegaly
Macroglossia
Adrenal cytomegaly.
34
Q

What is the most common sarcoma of childhood?

A

Rhabomyosarcoma!

5-8% of childhood malignancy.

35
Q

Where does Rhabdomyosarcoma typically show up?

A

within the head and neck specifically around the eye!

36
Q

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

A

60%

This type has to best prognosis!

37
Q

Which type of rhabdomyosarcoma has the best prognosis?

A

Embryonal rhabdomyosarcoma.

38
Q

Which type of rhabdomyosarcoma has the worst prognosis?

A

Pleomorphic Rhabdomyosarcoma.

39
Q

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

A

Fetal alcohol syndrome.

40
Q

What L/S ratio is associated with neonate RBS?

A

Path Exam III (6 decks)

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