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Patho II > Chapter10 > Flashcards

Chapter10 Flashcards

1
Q

What are malformations

A

primary error of morphogenesis which there is an intrinsically abnormal developmental process
involves many gene loci

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2
Q

What are disruptions

A

result from secondary destrucion of an organ or body region that was normal in development
arise from extrinsic disturbances in morphogenesis
non-hertiable

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3
Q

amniotic bands are an example of what type birth defect

A

disruption

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4
Q

what are deformations

A

extrinsic disturbance of development

structural abnormalities

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5
Q

Give examples of birth deformitites

A

uterine constraint from small or malformed uterus

oligohydramnios causing clubfeet

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6
Q

What are birth defect sequences

A

cascade of anomalies triggered by one inititating aberration

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7
Q

Describe the cascade resulting from oligohydramnios

A

dec amniotic fluid
potter sequence of flattened facies, positional abnormalities of hands and feet, dislocated hips, lungs are hypoplastic, amnio nodosum (nodules in amnion)

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8
Q

What is agenesis

A

complete absence of organ and primordium

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9
Q

What is aplasia

A

absence of organ but one due to failure of development of the primordium

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10
Q

what is atresia

A

absence of an opening, usually hollow visceral organ

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11
Q

what is dysplasia

A

abnormal organization of cell sin context of malformation, NOT neoplasia

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12
Q

What type of anomalies result from defects in gametogensis

A

chromosomal abberations

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13
Q

what is commonly invovlved in single gene mutations

A

loss of function genes involved in organogenesis

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14
Q

what is the most common single gene loss of function mutation?
gain of function?

A

loss: holoprosencaphaly; hedgehog signaling
gain: achondroplasia

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15
Q

what are the environmental causes of anomalies

A

viruses, Rx and chemials, radiation, maternal diseases and multifactorial causes

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16
Q

What infection leads to cataracts, heart defects, deafness, retardation in infants? when is the greatest risk period?

A

rubella

shortly before conception to 16th week gestation

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17
Q

what virus is most at risk during 2nd trimester and what are the symptoms

A

cytomegalovirus

CNS, retardation, microcephaly, deafness and HSM

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18
Q

What does thalidomide do

A

down regulation of WNT with HOX genes leading to limb abnormalities

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19
Q

what can EtOH do to infants

A

severe structural changes, cognitive and behavioral defects, growth retardation, microcephaly, atrial septal defects, short palpebral fissure, maxillary hypoplasia

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20
Q

What development pathways are affected by EtOH

A

hedgehog and retinoic

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21
Q

what can be the result of tobacco use during pregnancy

A

spontaneous abortions, premature labor, placental changes, low birth weight, prone to SIDs

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22
Q

radiation during organogensis can lead to what

A

malformations, microcephaly, blindness, skull defects, spin bifida

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23
Q

what can be the result of maternal DM

A

maternal hyperglycemia inducing fetal hyperinsulinemia with increased body mass and fat, organomegaly, cardiac anomalies, neural tube defects and other CNS problems

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24
Q

Describe the periods of insult from teratogens during early embryonic phases

A

first 3 weeks after fertilization: death or abortion
btwn 3-9 wks: increases susceptibility
btwn 4-5 wks: peak susceptibility because organs are being made from germ layers

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25
Q

How come during the fetal period there is reduced susceptibility to teratogens

A

because now just growth and maturation of the organs

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26
Q

what is cyclopamine and what does it cause

A

teratogen from veratrumcalifornicum

inhibits hedgehog siglaning leading to holosencephaly

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27
Q

what is valproic acid used to treat and what does it cause in fetuses

A

used to treat epilepsy

disrupts HOX genes so hace abnormal patterning of limbs, vertebrae and craniofacial structure

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28
Q

what can vitamin A cause during pregnancy

A

the retinoic acid form can cause CNS defects, cardiac and craniofacial defects via the TGF-b pathway

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29
Q

What does birthweight AGA mean

A

appropriate for gestational age

10-90% percentile

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30
Q

What does SGA mean

LGA

A

small for gestational age

large for gestational age

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31
Q

what are the gestational classifications

A

preterm: before 37 weeks

poster term: after 40 wks

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32
Q

what are the top two causes of infant mortality

A

1st- congenital anomalies

2nd- prematurity

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33
Q

what are risk factors for preterm premature rupture of placental membrane PPROPM

A

prior Hx preterm delivery, preterm labor and/or vaginal bleeding during current preg, maternal smoking, low socioeconomic, poor maternal nutrition, polymorphisms in genes assoc w/ immune regulation or collagen breakdwon

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34
Q

What occurs in PPROPM

A

inflammation of placental membranes, increased collagen degradation by matrix MMPs

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35
Q

What is chorioamnionitis

A

inflammation of placental membranes

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36
Q

what is funistitis

A

inflammation of fetal umbilical cord

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37
Q

What are the common microorganisms to cause intrauterine infections

A

ureaplasmaurealyticum
mycoplasma hominis
gardnerellavaginalis, thrichomonas, gonorrhea and chlamydia

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38
Q

What R does LPS from bacteria activate that can lead to preterm labor

A

TLR-4 that deregulates prostaglandin expression causing uterine smooth m contraction

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39
Q

What diseases can be caused by multiple gestations

A

hyaline membrane disease, necrotizing enterocolitis, sepsis, intraventricular hemorrhage, longterm complications

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40
Q

What are the fetal contributors to fetal growth restriction

A

chromosomal, congenital, congenital infections (TORCH)

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41
Q

What is TORCH

A

group of infections

taxoplasmosis, rubella, cytomegalovirus, herpesvirus and other viral/bacterial

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42
Q

what does fetal caused fetal frowth restriction look like

A

symmetrical growth restrictions

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43
Q

what are the placental contributors to fetal growth restriction

A

umbilical-placental vascular anomalies, placental abruption, placental previa, placental thrombosis and infarction, placental infection, multple gestaions

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44
Q

What does placental caused fetal growth restriction look like

A

asymmetric, sparing of brain

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45
Q

What is the most common cause of fetal growth restriction cause dby placenta

A

chromosomal trisomies

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46
Q

What are the maternal contributors to fetal growth restriction

A 
vascular diseases (preeclampsia) chronic HTN, inherited thrombophilias
maternal malnutrition
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47
Q

What causes neonatal respiratory distress syndrome RDS

A

hyaline membrane disease due to deposition of hyaline layer of proteinacecous material in peripheral airspaces of infants

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48
Q

How do infants with untreated RDS present

A

preterm AGA, male, maternal DM, delivery by C section
difficulty breathing and cyanotic 30 min post-delivery
rales b/l and x ray showing minute reticulogranular density

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49
Q

What is the fundamental defect in RDS

A

deficiency in pulmonary surfactant causing severe respiratory failure

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50
Q

what are the congenital mutations for surfactant deficiency

A

SFTPB and SFTBC genes

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51
Q

when do the type II alveolar cells increase production of surfactant

A

week 35

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52
Q

What can increase surfactant levels

A

glucocorticoid administration to mom

and labor

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53
Q

what molecule suppresses surfactant production

A

insulin high blood levels

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54
Q

what do the lungs look like in RDS

A

solid, airless, reddish purple, alveoli poorly developed or collapsed with necrotic cellular debris in terminal bronchioles and alveolar ducts

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55
Q

What do an infants lungs look like if survive 48 hrs with RDS

A

alveolar epithelium proliferates under surface of membrane and there is partial digestion by macrophages

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56
Q

what can occur after admin of surfactant O2 to infant with RDS

A

3-4 days can have oxygen toxicity from ROS

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57
Q

What does high O2 in neonate lead to

A 
retrolental fibroplasia (retinopathy of prematrutiy in eyes)
from changed expression of VEGF
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58
Q

What is required for Dx of bronchopulmonary dysplasia

A

28 days of O2 therapy and beyond 36 weeks post partum age

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59
Q

what are the abnormalities in BPD

A

dec alveolar septation, large SA

dysmorphic capillary configuration

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60
Q

what can cause BPD

A 
reversible
hyperoxemia
hyperventilation
prematurity
inflammatory cytokines
vascular meldevelopment
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61
Q

what is the morphology of BPD

A

septal fibrosis, hyperplastic smooth muscle around bronchioles, abnormal pleural surface

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62
Q

what are neonates that had RDS at risk for

A

patent ductus arteriosus, intraventriclar hemorrhage, necrotizing enterocolitis

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63
Q

What can cause necrotizing enterocolitis in infants

A

prematurity, enteral feeding, infectious agents, inflammatory mediators like PAF, intestinal ischemia

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64
Q

Describe the sequelae of intestinal ischemia

A

increased mucosal permeability by promoting RBC apoptosis and compromising the tight junctions ultimately leading to sepsis and shock

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65
Q

what is the clinical presentation of necrotizing enterocolitis in neonates

A

bloody stool, abdominal distention, development of circulatory collapse

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66
Q

What is penumatosisintestinalis

A

gas in intestinal wall

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67
Q

where anatomically is affected by NEC and what do theses areas look like

A

ileum, cecum, right colon and they all are distended, friable, congested or gangrenous
mucosal or transmural coagulative necrosis, ulceration, bacterial colonization and submucosal gas bubbles

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68
Q

what are the reparative changes of NEC

A

granulation tissue and fibrosis

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69
Q

when to transcervical infections occur

A

in utero or around time of birth

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70
Q

what causes transcervical ifnections

A

fetus inhales amniotic fluid before birth and may causes inflammation, or even penumonia sepsis and meningitis

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71
Q

what type of infections are transplacental

A

hematologic via chorionic villi

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72
Q

When can transplacental infections occur at time of birth

A

with concurrent HIB or HEP B infection

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73
Q

what are two common causes of transplacental infections

A

Parvobirus B19

TORCH infection group

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74
Q

intrauterine parvovirus leads to what

A

spontaneous abortion, stillbirth, hydropsfetalis and congenital anemia

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75
Q

the TORCH infection group causes what symptoms

A

fever, encephalitis, chorioretinianemia, vasciular or hemorrhagic skin lesions

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76
Q

when is early onset VS late onset sepsis

A

early: first 7 days of life

late (7 days-3 months)

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77
Q

what are symptoms of early sepsis

A

pneumonia, sepsis, meningitis

usually caused by Group B strep

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78
Q

what bacteria cause late onset sepsis

A

candida and lysteria

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79
Q

What is fetal hydrops

A

accumulation of edema fluid in fetus during intrauterine growth

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80
Q

what is the most common cause of fetal hydrops

A

non-immune hydrops

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81
Q

What is immune hydrops commonly from

A

Rh incompatibility
ABO incompatibility
destruction of RBC destruction

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82
Q

what is the mech of hydropfetalis in anemia

A

hypoxic injury to heart and liver leading to a decrease in plasma proteins and cardiace decompensation leading to dec oncotic P so generalized edna and anasarca

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83
Q

excessive descruction of RBC in neonates can also lead to what besides hydrops

A

kernicterus, jaundice

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84
Q

What are the 3 major causes of non-immune hydrops

A

CV defects
CSS anomalies
fetal anemia

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85
Q

What chromosomal anomalies cause hydrops

A

45X Turner, trisomy 1 and 18

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86
Q

what type of fetal anemia causes hydrops

A

homo alpha thalassemia most commonly

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87
Q

what are other non common causes of hydropsfetalis

A

transplacental infection from parvovirus

monozygous twins with twin-twin transfusion via anastomoses

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88
Q

Fetal anemia will lead to what sequelae

A

fetus and placenta are pale, HSM from cardiac failure and congestion, bone marrow shows compensatory hyperplasia or erythroid precursors, extramedullary hematopoiesis in liver, spleen and nodes

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89
Q

what will be present in a blood smear of fetal anemia

A

large numbers of immature RBC (erythroblastosis fettles)

90
Q

What is the most serious complication of fetal anemia

A

kernicterus BR>20mg/dL

91
Q

What are the clinical features of fetal hydrops

A

pallor and HSM

severe: intense jaundice, generalized edema, signs of neuro involvement

92
Q

What is the inheritance of PKU

A

autosomal recessive

bi-alleic mutations for PAH

93
Q

what is the abnomrality in PKU

A

cannot convert phenylalanine to tyrosine

94
Q

what are the cofactors for conversion by PAH

A

BH4 and dihydropteridinereductase

95
Q

even though mutations in BH4 alone are only 2% PKU what is important about these

A

cannot be treated by dietary control of Phe alone

96
Q

What happens with classic PKU

A

increased phenylpyruvic acid, phenyllactic acid, phenylacetic acid and o hydroxyphenylacetic acid
can impair brain and cause severe mental retardation by 6 mo, seizures and decreased pigmentaion of hair and skin, eczema

97
Q

What occurs with maternal PKU

A

metabolites cross placenta and affect specific fetal organs

neonates have microcephaly and congeintal heart disease

98
Q

What is Tx for PKU

A

diet, BH4 supplementation (molecular chaperone)

99
Q

What is the inheritance of galactosemia

A

autosomal recessive

100
Q

what is the most common form of galactosemia

A

lack of galactose-1-phosphate uridyltransferase GALTwhich converts glucose and galactose to glucose

101
Q

lack of GALT leads to what

A

accumulation of galactose-1-phosphate in liver, spleen, lens, kidneys, heart muscle, cerebral Cx, RBCs

102
Q

What is the clinical presentations of galactosemia

A

liber, eyes brain, Hepatomegaly, catarcts, nonsepcific changes in CNS

103
Q

What occurs in infants with galactosemia

A

fail to thrive, vomiting, dirrhea, jaundice, hepatomegaly
cataracts after few weeks
impairment of AA transport in kidney 6-12 mo leading to aminoaciduria

104
Q

what occurs in older patients with galactosemia

A

speech disorder and gonadal failure

105
Q

What is the mutation in galactosemia in whites vs african americans

A

white: glutamine to arginine at codon 188
aa: serine to leucine at 135

106
Q

what is the Dx for galactosemia

A

deficiency of transferase in leukocytes and RBCs

107
Q

how can you prevent early symptoms from galactosemia

A

removal of galactose from diet for at least 2 yrs

108
Q

What is cystic fibrosis

A

disorder of ion transport in epithelial cells that affects fluid secretion in exocrine glands and the epithelial lining of the respiratory, GI and repro tracts

109
Q

What results from abnormal viscous secretions that obstruct organs in CF

A

chronic lung disease from infections, pancreatic insufficiency, steatorrhea, malnutrition, hepatic cirrhosis, intestinal obstruction and male infertility

110
Q

what is the inheritance of CF

A

autosomal recessive

but heterozygotes can be at risk too

111
Q

What cofactors are essential for opening of the pore NBD assoc with CFTR

A

ATP and hydrolysis

112
Q

What is the primary defect in CF

A

abnormal function in epithelial Cl channel protein encoded on CFTR 7q31.2

113
Q

Describe interaction of CTFR with ENaC

A

ENaC is on the apical surface of exocrine epithelial cells and is responsible for Na uptake from luminal fluid leaving th fluid hypotonic
ENaC is inhibited by CFTR

114
Q

What is the exception to increased ENaC activity in CF

A

In CF: sweat ducts, decrease in ENaC activity which leaves the luminal fluid hypertonic

115
Q

What is the role of CFTR in respiratory and intestinal epithelium

A

active secretion of Cl
mutations: loss or reduction of Cl secretion into the lumen and increase active luminal Na absorption: increase passive water reabsorption from the lumen: lower water content of surface

116
Q

what occurs with a lower water content on surface of respiratory and intestinal epithelium

A

defective mucociliary action and accumulation of hyperconcentrated, viscid secretions that obstruct the air passages and predispose to pulmonary infections

117
Q

What bicarb exchanger is expressed with CFTR

A

SLC26

118
Q

Mutant CFTRs secrete acid leading to what

A

increase mucin and plugging of ducts
increase binding o bacteria to plugged mucins
pancreatic insufficiency present with abnormal bicarb conductance

119
Q

What is class I CF

A

defective protein synthesis, complete lack of CFTR on surface

120
Q

what is class II CF

A

abnomral protein folding, processing and trafficking

degraded before reach surface

121
Q

what is the most common class II mutation

A

deletion of 3 NT for phe at 508

122
Q

what is class III CF

A

defective regulation: prevent activation of CFTR by preventing ATP binding

123
Q

What is class IV CF

A

decreased conductance, mutations in transmembrane domain of CFTR which forms ionic pore for Cl transport

124
Q

What is class V CF

A

reduced abundance that affect intronic splice sites of the CTFR promoter reducing the amount of normal protein

125
Q

What is class VI CF

A

altered regulation of separate ion channels

affects conductance by CFTR as regulation of other ion channels

126
Q

What classes of CF are the most severe

A

I II and III

127
Q

what are the symptoms of class I II III CF

A

pancreatic insufficiency, sinopulmonary infections and GI

128
Q

what genes have polymorphisms assoc with CF pulmonary Sx

A

MBL2 and TGFb1

129
Q

what type of infeciton is common in CF

A

pseudomonas aeruginosa
the static mucus creates hypoxic environment which produces alginate and biofilm that protects bacteria from Abs leading to chronic destructive lung disease

130
Q

Describe pancreas morphology in CF

A

ducts have mucus accumulation and become plugged that leads to atrophy and fibrosis
the dec exocrine impairs fat absorption and leads to squamous metaplasia of lining of epithelium in ducts
meconium ileus

131
Q

what is the liver morphology in CF

A

the bile canaliculi are plugged with mucinouse material and ductal proliferation
focal biliary cirrhosis leads to diffuse hepatic nodularity

132
Q

what is the morphology of salivary glands in CF

A

progressive dilation of the ducts, squamous metaplasia of lining epithelium and glandular atrophy with fibrosis

133
Q

what is the morphology in the lungs in CF

A

bronchioles are distended with thick mucus associated with hyperplasia and hypertrophy of the mucus secreting cells
superimposed infections cause severe chronic bronchitis and bronchiectasis

134
Q

What is the most common organism that causes lung infections in CF

A

staphylococcus aureus, hemophilius influenzae and pseudomonas aeruginosa

135
Q

What is the most common finding in men with CF and infertility

A

azoospermia and congenital b/l absent vas deferens

136
Q

What are the CV complications in CF

A

persistent lung infections leading to COPD leading to core pulmonale
also P aeruginosa infections
recurrent sinusoidal polyps

137
Q

describe the liver in patients with CF

A

asymptomatic hepatomegaly

diffuse biliary cirrhosis

138
Q

What is SIDS

A

sudden death of an infant under 1 yr of age which is unexplained after autopsy, exam of death scene and review of clinical Hx

139
Q

In what position do infants usually die

A

in prone or side position

140
Q

90% of SIDS deaths occur when

A

in first 6 mo

usually btwn 2 and 4 mo

141
Q

What was thought to be the risk for SIDS

A

apparent life threatening event ALTE

142
Q

what is the triple risk for SIDS

A

vulnerable infant, critical development period in homeostatic control and exogenous stressor

143
Q

what is the current hypothesis for SIDS

A

delayed development of arousal and cardiorespiratory control

there are abnormalities in serotonin-dependent signaling in brainstem

144
Q

What are the vulnerability factors for SIDS

A 
preterm or SGA
male
genetic predisposition (sibling)
no abuse
prior Hx of mild respiratory tract
145
Q

how areURI linked to chemoreceptros

A

the change the laryngeal chemoreceptors to increase volume of secretions and impair swallowing

146
Q

what are the maternal risk factors for SIDS

A

smoking
young mom
frequent childbirths
inadequate prenatal care

147
Q

what are noxious sleep stimuli

A

hypoxia, hypercarbia and thermal stress

148
Q

what is the most common cause of sudden unexpected death

A

infection

149
Q

what is the morphology of SIDS

A

multiple petichiae, usually on thymus, visceral and parietal pleura and epicardium
the lungs are congested with vascular engorgement
upper respiratory tract signs of recent infections
astrogliosis of brain stem and cerebellum, hypoplasia of arcuate nucleus

150
Q

What must you rule out before Dx SIDS

A

unsuspected infection, congenital anomaly, genetic disorder or child abuse

151
Q

what is a herotopia or choristoma

A

normal cells or tissues that are present in abnormal locations
like pancreatic tissue in stomach

152
Q

what is a hamartoma

A

excessive focal overgrowth of cells and tissue native to the organ in which it occurs
not normal architecture
can be clonal like neoplasm

153
Q

what are the common tumors in children

A

soft tissue tumors of mesenchymal derivation

154
Q

what is the most common type of tumor in infancy

A

hemangioma

155
Q

what do hemangiomas look like

A

flat to elevated, irregular, red-blue masses

156
Q

what disease do hemangiomas present in

A

VHL

157
Q

what are the familial hemangiomas

A

CNS cavernouse

158
Q

What are lymphangiomas characterized by

A

cystic and cavernous spaces

may occur in skin but more common in deeper regions: neck, axilla, mediastinum, retroperitoneal tissue

159
Q

what causes lymphangiectasis

A

abnormal dilation of preexisting lymph channels
diffuse swelling of part of all of an extremity
distortion and deformation as consequence of spongy, dilated subQ and deeper lymph
lesion is not progressive and does not extend beyond original location

160
Q

fibromatosis

A

richly cellular lesions indistinguishable from fibrosarcomas in adults

161
Q

describe genes involved with fibrous tumors

A

ETV6-TRKC constitutively active and stimulates signaling thru oncogenic RAS and PI-3K/AKT
ETV6-NTRK3 fusion transcript is unique to infantile fibrosarcomas

162
Q

differentiate between mature and immature teratomas

A

mature is benign: well differentiated cystic and more common <4 mo old
immature: lesion of intermediate potential

163
Q

what is the most common teratoma in infants

A

sacrococcygealteratoma- 40% all cases

more common in girls and associated with congenital anomalies

164
Q

what are the main differences of malignant tumors in adults and children

A

incidence and type
close relationship between development(teratogenesis) and tumor induction (oncogenesis)
tendency of fetal and neonatal malignancies regress spontaneously
improved survival for childhood tumors

165
Q

what are the most common tumors from in children

A

hematopoietic, nervous system, soft tissue, bone and kidney

166
Q

what is the most common leukemia

A

acute lymphoblastic leukemia, more deaths in kids under 15 than other cancers combined

167
Q

what are other common childhood tumors that arise before 10 years old

A 
neuroblastomas
wilms tumor
hepatoblastoma
retinoblastoma
rhabdomyosarcoma
teratoma
ewing sarcoma
juvenile astrocytoma
medulloblastoma
ependymoma
168
Q

differentiate between mature and immature teratomas

A

mature is benign: well differentiated cystic and more common <4 mo old
immature: lesion of intermediate potential

169
Q

what is the most common teratoma in infants

A

sacrococcygealteratoma- 40% all cases

more common in girls and associated with congenital anomalies

170
Q

what are the main differences of malignant tumors in adults and children

A

incidence and type
close relationship between development(teratogenesis) and tumor induction (oncogenesis)
tendency of fetal and neonatal malignancies regress spontaneously
improved survival for childhood tumors

171
Q

what are the most common tumors from in children

A

hematopoietic, nervous system, soft tissue, bone and kidney

172
Q

what is the most common leukemia

A

acute lymphoblastic leukemia, more deaths in kids under 15 than other cancers combined

173
Q

what are other common childhood tumors that arise before 10 years old

A 
neuroblastomas
wilms tumor
hepatoblastoma
retinoblastoma
rhabdomyosarcoma
teratoma
ewing sarcoma
juvenile astrocytoma
medulloblastoma
ependymoma
174
Q

what is a blastoma

A

primitive rather than pleomorphic-anaplastic appearance

175
Q

what do blastomas look like histologically

A

small round blue cell tumors

176
Q

neuroblastic tumors include what other structures

A

sympathetic ganglia and adrenal medulla because are derived from primordial neural crest cells

177
Q

what is the most freq Dx tumor of infancy

A

neuroblastoma

178
Q

what germline mutation is associated with neuroblastomas

A

ALK

179
Q

what is the survival range for children with neuroblastomas

A

5yr for 40%

180
Q

which agegroup of children has a better prognosis for neuroblastomas?

A

younger than 18 mo

181
Q

40% neuroblastomas are where

A

adrenal medulla

182
Q

what are the other common places for neuroblastomas

A

paravertebreal region of abdomen and posterior mediastinum

183
Q

what do neuroblastomas look like

A

soft gray-tan tissue sometimes with a pseudo capsule

larger ones have an area of necrosis and systic softening and hemorrheage

184
Q

what do the cells look like in a neurooblastoma

A

small with dark nuclei, scant cytoplasm and poorly defined cell borders growing in solid sheets

185
Q

What is neurophil

A

eosinophilic fibrillary material that corresponds to neuritic processes of the primitive neuroblasts

186
Q

what is a ganglioneuroblastoma

A

ganalgion cells in various stages of maturation found in tumors admixed with primitve neuroblasts

187
Q

what is a ganglioneuroma

A

better differentiated lesions with many more large cells resembling mature ganglion cells with few residual neuroblasts

188
Q

What are schwann cells indicative of in a neuroblastoma

A

malignant clone

189
Q

what is a stage 1 neuroblastoma

A

localized tumor with complete gross excision, ipsilateral nonadherent nodes, negative for tumor

190
Q

what is a stage 2A neuroblastoma

A

localized tumor with incomplete gross resection, ipsilateral nonadherent nodes negative for tumor

191
Q

what is a stage 2B neuroblastoma

A

localized tumor with or without complete gross excision, ipsilateral non adherent nodes positive for tumor
enlarged contralateral nodes negative for tumor

192
Q

What is a stage 3 neuroblastoma

A

unresectable unilateral tumor infiltrating across midline with or without regional lymph involvement or localized unilateral tumor with contralateral regional lymph node involvement

193
Q

what is a stage 4 neuroblastoma

A

any primary tumor with dissemination to distant nodes, bones, bone marrow, liver and skin

194
Q

what is a stage 4S neuroblastoma

A

localized primary tumor with disssemination limited to skin, liver and or bone marrow
infants younger than 1y/o

195
Q

what are symptoms of neuroblastoma

A

usually under 2 present with abdominal masses, fever and possible weight loss
older children have bone pain, respiaratory symptoms or GI complaints

196
Q

how do neuroblastomas metastasize

A

through blood or lymph

raccoon eyes

197
Q

What explains the neonate blueberry muffin baby phenomenon in neuroblastomas

A

multiple cutaneous metastases that cause dark blue discoloration of the skin

198
Q

What is commonly secreted in neuroblastomas

A

catecholamines

199
Q

What molecular event in neuroblastomas has most profound prognostic impact

A

the amplification of the N-MYC oncogene

200
Q

Where is the N-MYC

A

2p23-24

201
Q

what does near diploid NB mean

A

more aggressive, harbor genetic instability with unbalanced translocations and chromosomal rearrangements

202
Q

what does hyper-diploid NB mean

A

better prognosis

203
Q

what deletion is correlated with N-MYC amplification

A

hemizygous deletion 1p36

hemizygous loss 11q

204
Q

what mutation is assoc with NB that does not involve amplification of N-MYC

A

gain of distal long arm chromosome 17

205
Q

What is a favorable prognostic factor in NB that we can trace

A

high TrkA

206
Q

What is the most common primary renal tumor of childhood

A

Wilms tumor

207
Q

when does wilmd tumor peak

A

between 2 and 5 years old

208
Q

What is WAGR syndrome and what is it assoc with

A 
aniridia, genital anomalies, mental retardation
deletion 11p13
WT1 wilms tumor assoc gene
PAX6 gene for aniridia
"first hit" for Wilms tumor
33% likely to develop Wilms tumor
209
Q

what is Denys-Drash syndrome

A

gonadal dysgenesis
glomerular lesion (diffuse mesangial sclerosis)
missense mutation of WT1 gene
higher risk for Wilms

210
Q

What is Beck-Wiedmann syndrome BWS and what is it assoc with

A

organomegaly, macroglossia, hemihypertophy, omphalocele, adrenal cytomegaly
WT2 11p15.5 normally expressed on one allele other imprinted
so imprinting abnormality of IGF2
increased risk for Wilms tumor
also increased risk for hepatoblastoma, pancreatoblastoma, adrenocortical tumors and rhabdomyosarcomas

211
Q

What is the role of B-catenin in wilms tumors

A

gain of function mutations in 10%

212
Q

what are nephrogenic rests

A

putative precursor lesions in renal parenchyma seen with wilms tumors
100% with b/l tumors

213
Q

a nephrogenic rest in the R kidney means what

A

increased risk of wilms tumor in L kidney

214
Q

what do wilms tumors look like

A

solitary, well-circumscribed mass

soft, homogenous tan and gray with occasional foci of hemorrhage, necrosis and cyst formation

215
Q

What is the triphasic combination of wilms tumors

A

blastemal, stromal and epithelial

216
Q

what is the epithelial differentiation in wilms tumors

A

abortive tubules or glomeruli

stromal cells-fibrocytic or myxoid

217
Q

what additional mutation is present in wilms tumors rendering them resistant to chemo

A

p53 mutations causing hyperchromatic pleomorphic nuclei with abnormal mitoses

218
Q

What are signs of wilms tumor in a child

A

large abdominal mass that is unilateral or may exten across midline and down to pelvis
hematuria, pain in abdomen, intestinal obstruction and appearance of HTN
could have pulm metastasis

219
Q

Are wilms tumors curable

A

yes if don’t have p53 mutation (anaplastic)

220
Q

which genetic defects of wilms have adverse prognosis

A

loss of DNA on 11q, 16q and gain on 1q in tumor cells

221
Q

even if wilms patients survive what are they at increased risk of

A

second primary tumor from treatment

222
Q

where do the galactose metabolites build up first in the brain

A

dentate of cerebellum and olivary nuclei of the medulla

Patho II (7 decks)

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