Malignant Tumors of Infancy and Childhood (10)

Question 1

2 common malignant neoplasms of childhood?

Answer 1

Neuroblastoma

Wilms Tumor

Question 2

Where are Neuroblastomas found?

Answer 2

Sympathetic ganglia and Adrenal Medulla

Question 3

Most common extracranial solid tumor of childhood?

Answer 3

Neuroblastomas

Question 4

What are Neuroblastomas made of?

Answer 4

Primordial NCCs

Question 5

Most Neuroblastomas are sporadic or familal?

Answer 5

Sporadic

- 1-2% are familial

Question 6

Familal Neuroblastomas usually present how?

Answer 6

Involving BOTH adrenals or at MULTIPLE autonomic sites

Question 7

Familial Neuroblastomas have a germline mutation in?

Answer 7

ALK gene (anaplastic Lymphoma Kinase)

Question 8

ALK gene

Answer 8

Anaplastic Lymphoma Kinase gene

– Familial Neuroblastomas

Question 9

With Neuroblastomas, an age younger than ____ has a more favorable outcome

Answer 9

18 months

Question 10

Where are a majority of Neuroblastomas found?

Answer 10

Adrenal medulla

Question 11

How do Neuroblastomas usually look?

Answer 11

In situ lesions = small

Soft, gray, tan, tissue

Question 12

If a Neuroblastoma is an in situ lesion (small), when they regress what will be left behind?

Answer 12

Calcification of tissue

Question 13

An Adrenal Medulla or sympathetic ganglia neoplasm?

Answer 13

Neuroblastoma

Question 14

What are Homer-Wright Pseudorosettes and what are they seen with?

Answer 14

Tumor cells aligned in a circle with Neuropil in the middle

- Seen with neuroblastomas

Question 15

What is neuropil?

Answer 15

Faint eosinophilic material seen in Neuroblastomas

Question 16

What are Homer-Wright Pseudorosettes and what are they seen with?

Answer 16

Tumor cells aligned in a circle with Neuropil in the middle

- Seen with Neuroblastomas

Question 17

If there is a presence of _____, neuroblastomas have a better outcome

Answer 17

Schwannian stroma

Question 18

Symptoms of a Neuroblastoma if the child is less than 2 years old?

Answer 18

Abdominal mass
Fever
Weight loss maybe

Question 19

Symptoms of a Neuroblastoma if the child is over 2 years old?

Answer 19

Bone pain
Respiratory issues
== METASTASIZED

Question 20

Where are 2 common places for a Neuroblastoma to metastasize?

Answer 20

1. Periorbital region - proptosis

2. Cutaneous - Blueberry muffin baby

Question 21

Proptosis and Blueberry muffin baby signify?

Answer 21

Neuroblastoma that has metastasized

Question 22

Regardless of location, what do Neuroblastomas produce?

Answer 22

Catecholamines!!

Question 23

Elevated catecholamines can diagnose?

Answer 23

Neuroblastomas

Question 24

With Neuroblastomas, there will be an increased in what excreted in the urine?

Answer 24

VMA

HVA

Question 25

Neuroblastomas - early or late stage diagnoses are more common?

Answer 25

Late

Question 26

Regardless of tumor stage, an age less than ____ has better outcomes for neuroblastomas

Answer 26

18 months

Question 27

Amplification of ____ is associated with BAD outcomes for Neuroblastomas

Answer 27

MYC

Question 28

On what chromosome is MYC?

Answer 28

2

Question 29

Increased MYC suggests?

Answer 29

Worse outcome for Neuroblastomas

Question 30

If a child is younger than 2 with a neuroblastoma, what can be used to estimate the outcome?

Answer 30

Ploidy

Question 31

What ploidy is associated with better outcomes of a child with Neuroblastoma that is less than 2 years old?

Answer 31

Hyperdiploid

Question 32

What can detect MYC amplification?

Answer 32

FISH

Question 33

Nephroblastoma

Answer 33

Wilms Tumor

Question 34

Between what ages are Wilms tumors the most common?

Answer 34

2-5 years old

Question 35

Most common RENAL tumor of childhood?

Answer 35

Wilms tumor

Question 36

Bilateral Wilms tumors are either?

Answer 36

1. Synchronous - growing at same time | 2. Metachronous - one after the other

Question 37

How is the age of onset of bilateral wilms tumors different than unilateral?

Answer 37

10 months earlier onset for bilateral tumors

Question 38

Bilateral Wilms tumors are assumed to have?

Answer 38

Germline mutation

Question 39

What percentage of Wilms tumors are sporadic?

Answer 39

90%

Question 40

What 3 malformation and chromosome abnormalities are associated with Wilms tumors?

Answer 40

1. WAGR syndrome 2. Denys Drash Syndrome 3. Beckwith Wiedmann Syndrome

Question 41

WAGR syndrome

Answer 41

Wilms tumors Aniridia (no iris) Genitourinary anomalies Retardation

Question 42

WAGR syndrome has a germline mutation of?

Answer 42

Deletion of 11p13 chromsome

Question 43

What is the percentage risk of developing a wilms tumor with WAGR syndrome?

Answer 43

33%

Question 44

What gene is knocked out with WAGR syndrome?

Answer 44

WT1 gene - 1st hit

Question 45

WAGR syndrome requires a second hit of the WT1 gene to develop a Wilms tumor. What type of mutation will do that?

Answer 45

Nonsense or Frameshift of the remaining WT1 allele

Question 46

Symptoms of WAGR syndrome?

Answer 46

Wilms tumor Aniridia (no iris) Genitourinary anomalies Retardation

Question 47

What is the percentage risk of developing a wilms tumor with Denys Drash Syndrome?

Answer 47

90%

Question 48

What are the symptoms with Denys Drash Sydrome?

Answer 48

Gonadal Dysgenesis (no male testicular development) and early renal failure

Question 49

What are the symptoms with Denys Drash Syndrome?

Answer 49

Gonadal Dysgenesis (no male testicular development) and early renal failure

Question 50

What mutation is seen with Denys Drash Syndrome that can lead to a wilms tumor?

Answer 50

Missense mutation in zinc finger region of WT1 that affects its DNA binding properties

Question 51

If only one mutation in the zinc finger region of WT1 is present with Denys Drash Syndrome, what will result?

Answer 51

Gonadal Dysgenesis | NEED 2 HITS on WT1

Question 52

Those with Denys Drash Syndrome have an increased risk of developing?

Answer 52

Gonadoblastoma

Question 53

What mutation is seen with Beckwith - Wiedmann Syndrome?

Answer 53

11p15.5 (WT2) - distal to WT1

Question 54

What are the symptoms with Beckwith - Wiedmann Syndrome?

Answer 54

Enlargement of organs, macroglossia (big tongue), hemihypertrophy (growth of one side of body), large cells in adrenal cortex

Question 55

What are the symptoms with Beckwith - Wiedmann Syndrome?

Answer 55

Enlargement of organs, Macroglossia (big tongue), hemihypertrophy (growth of one side of body), large cells in adrenal cortex

Question 56

What is overexpressed in Beckwith - Wiedmann Syndrome that may lead to development of a Wilms tumor?

Answer 56

IGF2

Question 57

With sporadic cases of wilms tumors how do they present?

Answer 57

Abdominal mass, that may extend across midline and into pelvis, hematuria, pain, hypertension

Question 58

Abdominal mass, extends across midline, hematuria and hypertension in a 2-5 year old suggests?

Answer 58

Wilms tumor

Question 59

How do wilms tumors look?

Answer 59

Large, solitary, well circumscribed mass of tan and gray

Question 60

What 3 cell types are commonly found in wilms tumors?

Answer 60

1. Blastemal 2. Stromal 3. Epithelial

Question 61

Blastemal cells in a wilms tumor?

Answer 61

Sheets of blue cells

Question 62

Epithelial cells in a wilms tumor?

Answer 62

Tubules

Question 63

If a wilms tumor has anaplasia (large hyperchromatic cells), what does that suggest?

Answer 63

TP53 mutations

Question 64

If a wilms tumor has anaplasia, what does that mean they are likely unresponsive to?

Answer 64

CHEMO - TP53 mutation

Question 65

Nephrogenic rests

Answer 65

Precursor lesions of wilms tumors in renal parenchyma

Question 66

Precursor lesions of wilms tumors in renal parenchyma

Answer 66

Nephrogenic rests

Question 67

With bilateral wilms tumors, how often are nephrogenic rests present?

Answer 67

100% of the time

Question 68

Nephrogenic rests increase the risk for?

Answer 68

Wilms tumors