Exam #3: Diseases of Childhood & Infancy III Flashcards Preview

General Pathology > Exam #3: Diseases of Childhood & Infancy III > Flashcards

Flashcards in Exam #3: Diseases of Childhood & Infancy III Deck (42):
1

What are the four different types of fibrous tumors in infants?

- Infantile myofibromatosis
- Aggressive infantile fibromatosis
- Infantile digital fibroma
- Congenital infantile fibrosarcoma

2

What is an infantile myofibromatosis?

Benign fibrous tumor in which cells express muscle-specific actin

*****This is the most common fibrous tumor in infants

3

What is an aggressive infantile fibromatosis?

Myofibroblast tumor that infiltrates skeletal muscle

****Note that despite infiltration, this is a benign tumor b/c it does not metastasize

4

What is a fibrosarcoma?

Malignant fibrous tumor in infants

5

What is a teratoma?

Germ cell neoplasm
- Most are sacrococcygeal
- Contain multiple different types of tissue

6

What is the most common solid tumor in the newbown? What sex is it more common in?

- Teratoma
- Girls

*****Benign mostly, ~10 % are malignant

7

What is the most common SOLID congenital MALIGNANCY?

Congenital neuroblastoma

*****Note this is vs. Teratoma, which is the most common benign solid tumor

8

Describe the microscopic appearance of a teratoma.

Contain multiple germ layers i.e.
- Epithelial cells
- Fibroblasts
- Cartilage

9

What is the second leading cause of death in kids 5-14?

Malignancy

****Note that accidents are the leading cause of death in kids from 5-14

10

What is a neuroblastoma?

Malignant tumor of primitive sympathetic cells (derived from primordial neural crest cells)
- Mainly from adrenal medulla & sympathetic ganglia
- 10 % of childhood cancer

****This is the most common malignant solid tumor in kids

11

Describe the clinical presentation of a neuroblastoma.

1) Abdominal mass
- 40% are tumors of the adrenal medulla
- 25% paravertebral sympathetic chain in the abdomen
2) Weight loss
3) Respiratory distress
4) Proptosis
5) Periorbital ecchymosis

****Note that proptosis & periorbital ecchymosis are a fxn of the periorbital region being a common metastatic site

12

What are the three major sources of childhood malignancies?

1) Hematopoietic
2) Nervous
3) Renal
4) Adrenal

13

What is "blueberry muffin baby" pathognomonic for?

Neuroblastoma--this is most commonly seen in neonates where disseminated neuroblastomas have invaded the skin causing a deep blue discoloration

14

What is proptosis?

Bulging eye

15

What is the most common primary malignant tumor of the kidney in children?

Wilms tumor

16

How is neuroblastoma diagnosed?

- Increased catecholamines in blood or catecholamine metabolites in urine
- Blood neuron-specific enolase (NSE)
- Tumor/ bone marrow biopsy for NSE staining

17

What are the catecholamine metabolites found in urine?

- Vanillylamandelic acid (VMA)
- Homovanillic acid (HVA)

18

What is "blueberry muffin baby" pathognomonic for?

Neuroblastoma

19

What are the different syndromes associated with Wilms tumors?

WAGR syndrome
- Aniridia (no iris)
- Genital anomalies
- Retardation

Denys-Drash Syndrome
- Nephropathy leading to renal failure
- Gonadal dysgenesis (male pseudohermaphroditism)
- Gonadoblastoma

20

What are the hallmarks of neuroblastoma on microscopy?

1) Small blue round cells
2) Rosette structure
3) Dense core neurosecretory granules*

*EM

21

What is the most common primary malignant tumor of the kidney in children?

Wilms tumor

22

What is the mutation associated with Denys-Drash Syndrome? What percent have Wilms Tumor?

WT1 (Dominant negative)

90%

23

What is the prognosis of Wilms Tumor?

Very good w/ nephrectomy & chemotherapy

24

What are the clinical manifestations of a Wilms Tumor?

Abdominal mass
Hematuria
Fever
HTN

25

What are the two most common tumors that present as a mass in a child? What are the clinical implications?

Neuroblastoma
Wilms tumor

*Must differentiate with imaging or biopsy & need to evaluate function of contralateral kidney

26

Describe the microscopic appearnace of a Wilms tumor. How does it differ from neuroblastoma?

Tightly packed blue cells with blastemal component & interspersed primitive tubules

****NOT ROSETTE

27

What is the mutation associated with WAGR Syndrome? What percent have Wilms Tumor?

Del 11p13 WT1

- 33%

28

What is the mutation associated with Denys-Drash Syndrome? What percent have Wilms Tumor?

WT1

90%

29

What is the prognosis of WIlms Tumor?

Very good w/ nephrectomy & chemotherapy

30

What is a Rhabdomyosarcoma?

Most common sarcoma of childhood

31

Describe the microscopic appearance of Embryonal Rhabdomyosarcoma.

Malignant cells ranging from primitive & round to spindled eosinophilic

32

What are the three subtypes of Rhabdomyosarcoma? Prognosis?

Embryonal Rhabdomyosarcoma (60%)
- Sarcoma botryoides--best prognosis

Aleolar Rhabdomyosarcoma (20%)

Pleomprphic Rhabdomyosarcoma (20%)
- worst prognosis

33

Describe the microscopic appearance of Embryonal Rhabdomyosarcoma.

Malignant cells ranging from primitie & round to spindled eosinophilic

34

How is rhabdomyoblastic differentation confirmed?

IHC staining for myogenin

35

Describe the microscopic appearance of Aleolar Rhabdomyosarcoma.

Tumor is tavered by a network of fibrous septae that divide the cells into clusters or aggregates creating the appearnce of a pulmonary alveoli

36

Describe the microscopic appearance of Pleomprphic Rhabdomyosarcoma.

Numerous large bizarre eosinophilic tumor cells

37

What are the features of Fetal Alcohol Syndrome?

- Growth Retardation
- Microcephaly
- Short palpebral fissures
- Maxillary hypoplasia
- Atrial septal defect

38

What is a NTD?

Neural tube defect= opening in the spinal cord or brain early in development

39

What dietary supplement is associated with reducing NTD?

Folic acid supplementation

40

How do you screen for a NTD?

Maternal AFP

41

What is the indicator for fetal lung maturity?

Surfactat

42

What do you test to tell fetal lung maturity?

Fetal amniotic fluid--L/S ratio i.e. Lecithin-sphingomyelin ratio