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Gao Review Book > Pediatric Pathology > Flashcards

Pediatric Pathology Flashcards

1
Q

Define malformation

A

Primary error of morphogenesis (intrinsic abnormal developmental process)

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2
Q

Examples of malformation

A

Syndactyly
Polydactyly
Cleft lip
Cleft palate
Congenital heart disease

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3
Q

Define disruption

A

Secondary destruction of a previously normal organ or body region

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4
Q

Example of disruption

A

Amniotic bands

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5
Q

Define deformation

A

Structural anomalies secondary to abnormal mechanical forces

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6
Q

Examples of deformation

A

Clubfoot due to bicornuate uterus
Oligohydramnios

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7
Q

Define sequence

A

Cascade of anomalies triggered by 1 initiating aberration

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8
Q

Describe Potter sequence

A

Chronic oligohydramnios causes:
1. Flattened facies with compressed nose and low set ears
2. Small chest circumference (pulmonary hypoplasia)
3. Clubfeet
4. Hip dislocation

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9
Q

Most common cause of death in Potter sequence

A

Pulmonary hypoplasia

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10
Q

Characteristic placental finding in oligohydramnios

A

Amnion nodosum

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11
Q

Define malformation syndrome

A

Constellation of congenital anomalies believed to be pathologically related that cannot be explained on the basis of a single, localized, initiating effect

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12
Q

Common causes of a large placenta

A
  1. Twin pregnancy
  2. Maternal DM
  3. Chronic intrauterine infections
  4. Severe maternal or fetal anemia
  5. Rh incompatibility
  6. Heavy smoking
  7. Placental chorangiomas
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13
Q

Common causes of a small placenta

A
  1. IUGR
  2. Chromosomal abnormalities
  3. Intrauterine infection
  4. Pre-eclampsia
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14
Q

Mechanisms of microorganism transmission via cervicovaginal route

A
  1. Infected birth canal
  2. Inhaling infected amniotic fluid
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15
Q

Infections associated with plasma cells in placenta

A
  1. CMV
  2. Syphilis
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16
Q

List chronologic sequence of ascending infection

A
  1. Involving only free membranes near cervical os
  2. Subchorionic intervillositis
  3. Chorionitis
  4. Chorioamnionitis
  5. With funisitis
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17
Q

Type of placenta associated with twin-twin transfusion

A

Monochorionic

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18
Q

Type of placenta associated with monozygotic twins

A

Monochorionic

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19
Q

Clinical significance of velamentous cord insertion

A

Tearing during labor and delivery

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20
Q

Clinical significance of complete circumvallate placenta

A

Increased frequency of:
1. LBW
2. Antepartum bleeding
3. Premature labor
4. Fetal hypoxia

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21
Q

Type of seizures in eclampsia

A

Tonic-clonic seizures

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22
Q

Define HELLP syndrome

A

Epigastric pain in pre-eclamptic patients:
1. Hemolytic anemia
2. Elevated liver enzymes
3. Low platelet

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23
Q

Pathologic placental findings in pre-eclampsia

A
  1. Small placenta
  2. Multiple infarcts
  3. Decidual vasculopathy (smooth muscle presists, thrombosis, acute atherosis)
  4. Villous hypermaturity
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24
Q

Types of extrachorial placenta

A
  1. Circumvallate
  2. Circummarginate
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25
Q

Example of malformation syndrome

A

Down syndrome

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26
Q

Define agenesis

A

Absence of organ primordium

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27
Q

Define aplasia

A

Failure of organ primordium to develop beyond primitive form

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28
Q

Define atresia

A

Abnormal absence or closure of an organ orifice or passage

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29
Q

Limitations of abortus tissue for cytogenetic analysis?

A
  1. Contamination with maternal cells
  2. Fetal cells must be viable (grown in culture for metaphase)
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30
Q

Estimate fetal death before delivery?

A

0-1 day: red skin with slippage, peeling
2-7 days: red serous fluid, extensive peeling
>14 days: yellow-brown liver, mummification, FVM findings

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31
Q

Findings in Trisomy 13 (Patau syndrome)

A

CNS: absence of olfactory bulbs, microophthalmia
Face: Microcephaly, cleft lip and palate
Polydactyly
VSD, PDA, ASD
Single umbilical artery

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32
Q

Findings in Trisomy 18 (Edward)

A

Face: small mouth, micronagthia, low set ears
Hands/Feet: short dorsiflexed toe, index finger overlaps third finger
Valvular abnormalities
SGA, short sternum

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33
Q

Findings in Trisomy 21

A

CNS: open operculum in brain
Face: flat facies, oblique palpebral fissure, epicanthal folds
Hands/feet: Simian crease, sandal deformity
Heart: ASD, VSD

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34
Q

Findings in Monosomy X

A

Nuchal cystic hygroma
Marked edema of dorsal faces
Coarctation of the aorta

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35
Q

Genetic abnormalities in Turner syndrome

A

50% monosomy X
50% partial or complete deletion of small arm of X or mosaics

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36
Q

Manifestations of Turner in adolescent girls and young women

A
  1. Short stature
  2. Hypogonadism
  3. Streak ovaries
  4. Failure of development of secondary sex characteristics
  5. Short webbed neck
  6. Broad chest, widely spaced nipples
  7. CHD
  8. Melanocytic nevi
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37
Q

Genetic abnormalities in Down

A

95% Trisomy 21
3% translocations
2% mosaics

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38
Q

Risk factor for Down

A

Maternal age >45 years

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39
Q

Later manifestations of Down syndrome

A
  1. Increased chances of acute leukemia (usually lymphoblastic)
  2. Alzheimer changes in the brain
  3. Diminished life expectancy
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40
Q

Main autopsy findings in congenital HSV

A

Microcephaly
Hydrocephaly
Microphthalmia

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41
Q

Main autopsy findings in congenital CMV

A

Microcephaly
Hydrocephaly
Microphthalmia
Giant cell hepatitis
Cholangitis
Viral inclusions in lung and kidneys
Arterial and periventricular calcification

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42
Q

Main autopsy findings in congenital toxoplasmosis

A

Usually asymptomatic
Severe: Hydrocephaly or microcephaly, intracranial calcifications, hepatosplenomegaly, jaundice, chorioretinitis, CSF pleocytosis

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43
Q

List 5 well documented teratogens

A
  1. Thalidomide
  2. Folate antagonists
  3. Ethanol
  4. Androgenic hormones
  5. Warfarin
  6. Retinoic acid
  7. Valproic acid
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44
Q

Teratogen example and outcome

A

Valproic acid - homeobox protein transcription, important for limb, vertebrae, and craniofacial development

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45
Q

Fetal alcohol syndrome vs fetal alcohol spectrum disorders?

A

FASD - only subtle cognitive or behavioral defects
FAS - growth retardation, microcephaly, ASD, short palpebral fissures, maxillary hypoplasia

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46
Q

List the types of twin placentation

A

Dichorionic diamniotic twin placentas (2 discs).
Dichorionic diamniotic twin placenta (fused, 1 disc).
Monochorionic diamniotic twin placenta.
Monochorionic monoamniotic twin placenta.

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47
Q

Describe chronic histiocytic intervillositis (CHI)

A

Defined as an infiltrate of histiocytic-predominant mononuclear cells in the intervillous space

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48
Q

Clinical manifestations of preeclampsia

A
  1. Pregnancy induced hypertension and proteinuria develop after 20 gestational weeks
  2. Subcutaneous edema
  3. Epigastric pain/liver tenderness
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49
Q

Placental gross and histologic findings of preeclampsia

A
  1. Small
  2. Multiple infarcts
  3. Decidual vasculopathy: lack of physiologic conversion (smooth muscle persists), thrombosis, and acute
    atherosis (fibrinoid necrosis plus macrophages)
  4. Accelerated villous maturation
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50
Q

Excess exposure to retinoic acid?

A

Craniofacial defects (cleft lip and palate)
CNS defects
Heart defects

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51
Q

Deficiency of retinoic acid

A

Ocular, genitourinary, cardiovascular, pulmonary, and diaphragmatic malformations

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52
Q

Risk period for rubella

A

Until 16 weeks AOG
(especially first 8 weeks)

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53
Q

Tetrad of congenital rubella

A
  1. Cataracts
  2. Congenital heart defects (persistent ductus arteriosus, pulmonary artery stenosis, ventricular septal defect,
    and tetralogy of Fallot)
  3. Deafness
  4. Mental retardation
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54
Q

Neonatal HSV findings at autopsy?

A
  1. Hepatoadrenal necrosis
  2. Vesicular skin rash
  3. Vesicular/ulcerated stomatitis, esophagitis
  4. Necrotizing pneumonitis
  5. Chorioretinitis
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55
Q

Infection of parvovirus B19 in childhood

A

erythema infectiosum

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56
Q

Infection of parvovirus B19 in pregnancy

A

Usually normal
Can have congenital anemia, hydrops fetalis, and spontaneous abortion

Characteristic intranuclear viral inclusions can often be identified in
fetal nucleated red blood cells.

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57
Q

Types of hydrops fetalis

A

Severe: hydrops fetalis, generalized edema
Less severe: pleural effusion, peritoneal effusion, cystic hygroma

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58
Q

Major causes of nonimmune hydrops

A
  1. Infections other than parvovirus — CMV, syphilis, toxoplasmosis
  2. Malformations — especially thoracic (e.g., congenital pulmonary airway malformation, diaphragmatic hernia)
    or urinary tract.
  3. Twin-twin transfusion.
  4. Metabolic disorders
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59
Q

Define immune hydrops

A

Hemolytic disorder caused by blood group antigen incompatibility between mother and fetus

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60
Q

Why is Rh disease uncommon in the first pregnancy

A

Maternal exposure to fetal RBCs occurs in the last trimester when placental villi cytotrophoblasts are absent, or
during delivery. Exposure initially invokes an IgM antibody response and IgM, unlike IgG, does not cross the
placental barrier

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61
Q

Describe prophylaxis for immune hydrops

A

Rh negative mothers receive Rhesus immune globulin containing anti-D antibodies at 28 weeks gestation and
within 72 hours of delivery, as well as after abortions

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62
Q

Why does maternal-fetal ABO incompatibility not cause problems?

A
  1. Most anti-A and anti-B antibodies are IgM and don’t cross the placenta.
  2. Neonatal RBCs express A and B blood group antigens poorly.
  3. Fetal cells other than RBCs express them and can absorb transferred antibodies.
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63
Q

Under what circumstances is ABO hemolytic disease of the newborn most likely to occur

A

Almost exclusively in blood group A or B infants born to group O mothers who possess preformed IgG
antibodies directed at group A and/or B antigens

Can happen in first pregnancies

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64
Q

2 common signs and symptoms of excessive destruction of red blood cells in neonates

A
  1. Anemia
  2. Jaundice
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65
Q

Define SIDS

A

Death of an infant < 1 year that cannot be explained by clinical
history, examination of the death scene, or autopsy

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66
Q

What is the distinction between SIDS and SUID?

A

SUID stands for sudden unexpected infant death — a subset of these are true SIDS cases

67
Q

3 risk factors in triple-risk model of SIDS

A

(1) a vulnerable infant
(2) a critical developmental period in homeostatic control
(3) an
exogenous stressor

68
Q

Risk factors

A
  1. Young maternal age (< 20 years).
  2. Maternal smoking during pregnancy.
  3. Drug abuse in either parent.
  4. Short intergestational intervals.
  5. Late or no prenatal care.
  6. Poverty.
  7. Brainstem abnormalities with associated defective arousal and cardiorespiratory control.
  8. Prematurity and/or low birth weight.
  9. Male sex.
  10. Product of a multiple birth.
  11. SIDS in a prior sibling.
  12. Germline polymorphisms in autonomic nervous system genes.
  13. Antecedent respiratory infections.
  14. Prone or side sleeping position.
  15. Sleeping on a soft surface.
  16. Co-sleeping in first 3 months of life.
  17. Hyperthermia.
69
Q

List causes of respiratory distress syndrome

A
  1. Neonatal respiratory distress syndrome (hyaline membrane disease).
  2. Excessive sedation of the mother.
  3. Fetal head injury, or aspiration of blood or amniotic fluid, at delivery.
  4. Cord accident causing intrauterine hypoxic insult
70
Q

Gross features of RDS in newborns

A
  1. Normal size, solid and not aerated
  2. Poorly-aerated, do not float in water
  3. Reddish purple color like normal liver
71
Q

List at least 3 risk factors for neonatal hyaline membrane disease

A
  1. Preterm delivery (but weight appropriate for gestational age).
  2. Caesarean delivery.
  3. Male infant.
  4. Diabetic mother
72
Q

Microscopic features of RDS

A
  1. Poorly developed alveoli
  2. Collapsed alveoli
  3. Pink hyaline membranes
73
Q

Infants who recover from RDS are at increased risk for what conditions

A
  1. Patent ductus arteriosus.
  2. Intraventricular hemorrhage.
  3. Necrotizing enterocolitis.
  4. Retinopathy of prematurity (retrolental fibroplasia).
  5. Bronchopulmonary dysplasia
74
Q

What lecithin/sphingomyelin ratio is protective

A

> 2:1

75
Q

List 2 serious complications of oxygen therapy

A

Retrolental fibroplasia (retinopathy of prematurity).

Bronchopulmonary dysplasia

76
Q

Complication of NEC after survival

A

Fibrotic structures

77
Q

Clinical signs of NEC

A
  1. Bloody stools
  2. Abdominal distention
  3. Circulatory collapse
  4. X-ray: Gas in intestinal wall (pneumatosis intestinalis)
78
Q

Gross findings in NEC

A

Distended, friable, congested bowel
Usually in TI, cecum, ascending colon

79
Q

Etiology of NEC

A
  1. Alteration of the microbiome associated with enteral feeding seems likely.
  2. Infectious agents (none uniformly cultured) may also contribute.
  3. Increased mucosal permeability due to elevated inflammatory mediators such as platelet activating factor
    (PAF) permits migration of gut bacteria
80
Q

Genetics of Gaucher

A
  1. Autosomal recessive
  2. Mutations in gene encoding glucocerebrosidase
  3. Results in glucocerebrosides (from dying RBCs, WBCs) accumulate in cels
81
Q

Types of Gaucher disease

A
  1. Type 1 = chronic nonneuronopathic, with reduced but detectable enzyme levels, Ashkenazi, splenomegaly
  2. Type 2 - acute neuronopathic with hepatosplenomegaly and progressive CNS involvement
  3. Type 3 - systemic involvement, like Type 1, subacute neuronopathic
82
Q

Genetics of phenylketonuria

A
  1. Autosomal recessive
  2. PAH gene mutation
  3. Cannot convert phenylalanine to tyrosine, have hyperphenylalaninemia
83
Q

Consequences of PKU

A

Normal at birth but severe mental retardation at 6 months
Brain - decreased weight, defective myelination, gliosis

84
Q

Clinical presentation of PKU

A
  1. Seizures and other neurologic abnormalities.
  2. Decreased pigmentation of hair and skin (due to a deficiency of tyrosine, a precursor of melanin).
  3. A musty odor.
  4. Eczema.
85
Q

How is PKU diagnosed in a newborn

A

Neonatal screening of a blood spot

86
Q

Other problem with PKU (not PAH)

A

Enzyme cofactor tetrahydrobiopterin (BH4)
2% of cases
Cannot be treated by dietary restrition

87
Q

Uncontrolled maternal PKU in pregnancy?

A

Metabolites can cross placenta and cause:
1. Microcephaly
2. Mental retardation
3. CHD

88
Q

Genetics of galactosemia

A
  1. Autosomal recessive
  2. From accumulation of galactose-1-phosphate because not converted to glucose
  3. Either deficiency of galactokinase or galactose-1-phosphate uridyl transferase (GALT, severe)
89
Q

Consequences of GALT deficiency

A
  1. G1P in liver, eyes, brain
  2. Failure to thrive from birth
  3. Vomiting and diarrhea on milk
  4. Jaundice, hepatomegaly
  5. Cataracts
  6. Mental retardation
  7. Aminoaciduria due to impaired kidney function
  8. Hemolysis and coagulopathy
  9. E. coli septicemia due to impaired neutrophilic bactericidal activity
  10. If older - speech disorder, gonadal failure, ataxia
90
Q

Describe the locations of first, second, and third branchial cleft cysts

A

1: Adjacent to EAC, pinna, or parotid
2. From persistence of cervical sinus
3. Rare, lateral neck

91
Q

Embryogenesis of thyroglossal duct

A

Vestigial remnant of the tubular development of the thyroid gland

92
Q

Histologic findings

A
  1. +/- thyroid follicles
  2. midline neck, anterior to trachea
  3. may have squamous or respiratory columnar epithelium
93
Q

Pulmonary histology of CF

A
  1. Bronchioles distended with thick mucous.
  2. Marked hyperplasia and hypertrophy of mucous secreting cells lining the respiratory tract.
  3. Chronic bronchitis, bronchiectasis, and abscesses.
94
Q

3 most common infectious organisms for CF patients and a fourth group of highly problematic
organisms

A
  1. S. aureus
  2. H. influenzae
  3. P. aeruginosa
  4. Burkholderia cepacia - cepacia syndrome, necrotizing pneumonia
95
Q

Most common causes of CF death in North America

A
  1. Chronic lung infections, obstructive pulmonary disease, and cor pulmonale (80% of deaths).
  2. Complications post lung transplantation.
  3. Liver disease (adults).
96
Q

Classification of CF mutations

A

Class I — defective protein synthesis (null mutations).
Class II — abnormal protein folding, processing, and trafficking (processing mutations).
Class III — defective regulation (gathering mutations).
Class IV — decreased conductance (conduction mutations).
Class V — reduced abundance (production mutations).
Class VI — decreased membrane CFTR stability (instability mutations)

97
Q

Prognosis of CF mutations (based on classifications)

A

1-3: severe, pancreatic insufficiency, sinopulmonary infections, GI symptoms
4-6: mild

98
Q

Explain the role of genetic and environmental modifiers in the pulmonary manifestations of CF

A

Genetics - can affect neutrophil function

Environmental - bacteria producing alginate use gel for protection against cellular or humoral immune response

99
Q

Gene and chromosome number in CF

A

cystic fibrosis transmembrane conductance regulator (CFTR) gene

Chromosome 7

100
Q

Function of CFTR protein

A

Forms a chloride channel

Also regulates other channels

101
Q

Relevance of bicarbonate ion transport in CF

A

If affected: in pancreas, epithelial secretions are too acidic, pancreatic ducts are plugged with mucin, and exocrine pancreas become atrophic

102
Q

Pathogenesis of Hirschsprung

A

Submucosal (Meissner) plexus and myenteric (Auerbach) plexus ganglion cells develop from neural crest cells
that migrate to and populate the bowel wall during development

Proximal dilated colon

103
Q

Genetic abnormality in Hirschsprung?

A
  1. Sporadic
  2. LOF mutation in RET
104
Q

Incidence of Hirschsprung

A

1 in 5000 births, increased in Down’s

105
Q

2 major histologic features in colonic resections with Hirschsprung disease

A
  1. Ganglion cells are absent in submucosal (Meissner) plexus and myenteric (Auerbach) plexus.
  2. Hypertrophic nerve fibers in submucosa are usually present
106
Q

Name an immunohistochemical stain that can help diagnose Hirschsprung disease

A

Calretinin
- reactive small fibers in LP and MM in normal bowel

107
Q

Define heterotopia or choristoma

A

Microscopically normal cells or tissues present in abnormal locations

108
Q

Examples of heterotopia

A
  1. Pancreatic tissue in the wall of the small intestine.
  2. Pancreatic or gastric tissue in a Meckel diverticulum.
  3. Adrenal cortical rests in a variety of sites, such as adjacent to a gonad.
  4. Thymic rest adjacent to the thyroid.
109
Q

Clinical significance of heterotopia

A

Can give rise to a primary
neoplasm in an unexpected site

110
Q

Define hamartoma

A

Focal overgrowth of normal, mature cells or tissues native to an organ, but not reproducing the
normal architecture of the surrounding normal tissue

111
Q

List 3 types of benign tumors in infancy and childhood

A
  1. Hemangioma
  2. Lymphangioma
  3. Fibromatosis/congenital-infantile fibrosarcoma
112
Q

Strange features of hemangioma in infancy vs childhood

A
  1. Capillary hemangiomas can be more cellular
  2. Hemangiomas can be due to an underlying hereditary disorder
  3. Infantile hemangioma can regress spontaneously
113
Q

Prognosis of fibromatosis/congenital-infantile fibrosarcoma

A

Good prognosis

114
Q

Chromosomal translocation in fibromatosis/congenital-infantile fibrosarcoma

A

t(12;15)
ETV6-NTRK3
Constitutively active through PI3/AKT pathway

115
Q

Teratomas can be mixed with what other GCT

A

YST
Embryonal carcinoma

116
Q

Sacrococcygeal teratomas are often associated with what?

A

Congenital anomalies (sacral body defect, in hindgut or cloacal region)

117
Q

Most common type of leukemia in kids

A

Acute lymphoblastic leukemia

118
Q

Differentials of small round blue cell tumors in head

A

medulloblastoma
atypical teratoid/rhabdoid tumors (AT/RT)
neuroblastoma
retinoblastoma
olfactory
neuroblastoma (esthesioneuroblastoma)
rhabdomyosarcoma

119
Q

Differentials of small round blue cell tumors in thorax

A

Askin tumor (malignant small cell tumor of thoracopulmonary origin, Ewing family of tumors)
rhabdomyosarcoma lymphoma
pleuropulmonary blastoma

120
Q

Differentials of small round blue cell tumors in abdomen

A

neuroblastoma
rhabdomyosarcoma
lymphoma
Wilms tumor
Ewing sarcoma
desmoplastic small
round cell tumor

121
Q

Molecular prognosticators for neuroblastoma

A

MYCN amplification
1p deletion
11q deletion and/or 17q gain
DNA index

122
Q

Molecular prognosticators for Burkitt

A

c-MYC gene (chromosome 8)
translocations
t(2;8), t(8;14), or t(8;22)

123
Q

Molecular prognosticators for alveolar rhabdomyosarcoma

A

PAX3/FOXO1 fusion gene, t(2;13)
PAX7/FOXO1 fusion gene, t(1;13) - better prognosis

124
Q

Molecular prognosticators for Ewing sarcoma

A

EWSR! gene on chr 22 and FLI1 (chr 11)
ERG - chr 21

125
Q

Fusion for desmoplastic small round blue cell tumor

A

EWS/WT1 fusion

126
Q

List 3 histologic features of neuroblastoma

A
  1. Nesting pattern: usually ill-defined organoid nests with thin fibrovascular septa.
  2. Neuroblasts — various differentiation:
    Nucleus: from small blue round to progressively enlarged, vesicular.
    Cytoplasm: from scanty to abundant.
    Neurofibrillary processes (neuropil).
    Differentiation toward ganglion cells.
    Homer-Wright pseudorosettes.
  3. Schwannian stroma: < 50% of the tumor
127
Q

The INPC distinguishes between 2 prognostic groups of untreated neuroblastoma?

A

Favorable histology (FH)

Unfavorable histology (UH)

128
Q

Basis of INPC classification

A

Schwannian stroma
Ganglionic differentiation
Mitotic and
karyorrhectic index (MKI)
Patient age

129
Q

INPC classifications

A

Neuroblastoma Schwannian stroma poor (undifferentiated, poorly-diff, differentiating)

Ganglioneuroblastoma, nodular (composite, Schwannian stroma-rich/dominant, stroma-poor)

Ganglioneuroblastoma, intermixed (Schwannian stroma-rich)

Ganglioneuroma (Schwannian stroma dominant)

130
Q

Tumor stage (International Neuroblastoma Risk Group Staging System [INRGSS]) parameters for neuroblastoma

A

Pretreatment imaging
Patient age
Clinical extent of disease

131
Q

Tumor stage INRGSS

A

Stage L1— localized tumor not involving vital structures as defined by the list of image-defined risk factors
and confined to 1 body compartment.

Stage L2 — locoregional tumor with presence of ≥ 1 image-defined risk factors.

Stage M — distant metastatic disease (except stage MS).

Stage MS — metastatic disease in children < 18 months with metastases confined to skin, liver, and/or bone
marrow with minimal marrow involvement

132
Q

Prognostic parameters of low-risk or intermediate-risk neuroblastoma

A

<18 months of age
Hyperdiploid chromosomes

133
Q

Prognostic parameters of high-risk neuroblastoma

A

> 18 months of age
Segmental chromosome abnormalities (gains/losses)
MYCN gene amplification

134
Q

Key genomic characteristics of neuroblastic tumors

A
  1. MYCN
  2. ALK - familial predisposition
  3. ATRX - older children
  4. DNA index - near diploid/tetraploid is unfavorable
  5. Hemizygous deletion of distal short arm of chromosome 1
  6. Segmental chromosome aberrations - 1p deletion, 11q del, 17q gain
  7. Alterations in numbers of whole chromosomes (lower risk tumors)
135
Q

Positive IHC in rhabdomyosarcoma

A

Desmin, MSA, myoD1, myogenin

136
Q

Positive IHC in neuroblastoma

A

PGP9.5, NB84, synaptophysin, NSE

137
Q

List 2 biochemical markers for neuroblastoma

A
  1. vanillylmandelic acid (VMA)
  2. homovanillic acid (HVA)

Urine/blood

Catecholamines may not be increased in undifferentiated neuroblastomas

138
Q

3 key syndromes associated with Wilms tumor

A
  1. WAGR
  2. Denys-Drash
  3. Beckwith-Wiedemann syndrome (BWS)
139
Q

Characteristics of WAGR syndrome

A

Wilms, aniridia, genitourinary anomalies, mental retardation (intellectual disability)

140
Q

Mutations in WAGR

A

Germline deletion of WT1 and PAX6 (aniridia)

141
Q

Characteristics of Denys-Drash syndrome

A

Wilms tumor
Gonadal dysgenesis
Early-onset nephropathy (diffuse mesangial sclerosis)

142
Q

Syndrome with Wilms and high risk for gonadoblastoma

A

Denys-Drash syndrome

143
Q

Mutation in Denys-Drash

A

Germline dominant–negative missense mutation in the zinc-finger region of WT1

  • interferes with the function of the other normal allele
144
Q

Characteristics of Beckwith-Wiedemann syndrome (BWS)

A

Macrosomia
Organomegaly
Macroglossia
Hemihypertrophy
Omphalocele
Adrenal cytomegaly

145
Q

Affected genes in Beckwith-Wiedemann syndrome

A

WT2 locus, IGF-2 in this region

146
Q

Imprinting in BWS

A
  1. Re-expression of maternal allele of IGF-2 (loss of imprinting)
  2. Duplication of transcriptionally active paternal allele (uniparental paternal disomy)
147
Q

Presence of anaplasia in Wilms correlates with?

A

p53 mutations
chemotherapy resistance

148
Q

Histologic features in Wilms

A

Blastemal (sheets of small blue cells)
Stromal (fibroblastic, myxoid, occasionally skeletal muscle)
Epithelial (abortive tubules and glomeruli)

149
Q

Precursor of Wilms

A

Nephrogenic rests

150
Q

Significance of nephrogenic rests

A

Increased risk of developing Wilms in contralateral kidney

151
Q

Site of Ewing sarcoma in bone

A

Medullary cavities

152
Q

Sites of predilection

A

Long bones
Pelvis

153
Q

Radiologic findings of Ewing

A
  1. Destructive lytic tumor extending to soft tissue
  2. Elevation of periosteum
  3. Onionskin layering
154
Q

Histologic findings of Ewing sarcoma

A

Sheets of uniform small round blue cells.
Homer-Wright rosettes.
Sparse intercellular stroma.
Few or no mitoses.
Intracytoplasmic glycogen (clear cytoplasm).
CD99+

155
Q

List tumors with involvement of EWSR1 gene

A

Ewing sarcoma family of tumors.
Desmoplastic small round cell tumor.
Angiomatoid fibrous histiocytoma.
Clear cell sarcoma of soft parts.
Extraskeletal myxoid chondrosarcoma.
Extraskeletal chondrosarcoma.
Myoepithelioma

156
Q

Clinical presentation of ABC

A
  1. First 2 decades of life
  2. Rapid onset of pain and swelling
157
Q

Where does ABC most commonly arise?

A

Long bones (metaphysis)

158
Q

Radiologic findings in ABC

A

X-ray: sharply defined, expansile osteolytic lesion with thin sclerotic borders.

CT: fluid-fluid levels.

159
Q

Differential diagnosis of ABC

A
  1. Telangiectatic osteosarcoma.
  2. Giant cell tumor.
  3. Non-ossifying fibroma
  4. Fracture
160
Q

Genetic basis of ABC

A

Rearrangements of chromosome 17p13 lead to USP6 overexpression

161
Q

What type of virus is ABC

A

Herpes-type virus

162
Q

Pathogenesis of EBV

A

Infects B lymphocytes and epithelial cells

viral glycoprotein gp350 and CD21 on lymphocytes

163
Q

EBV gene products in EBV infected cells

A

EBV nuclear antigens (EBNA-1, EBNA-2, EBNA-3).

Latent membrane proteins (LMP1, LMP2) localized in the plasma membrane of infected B cells.

Nonpolyadenylated nuclear RNAs, EBER1 and EBER2 (which are often used to detect the presence of EBV
within a cell)

164
Q

5 diseases associated with EBV infection

A

Infectious mononucleosis (100%).
Burkitt lymphoma (endemic > 90%, nonendemic 15%–20%).
Nasopharyngeal carcinoma (100%).
Chronic active EBV infection (100%).

Hodgkin lymphoma (mixed cellularity 70%, lymphocyte-rich 40%, nodular sclerosis usually EBV negative).

Primary CNS lymphoma (> 90%).
Posttransplant lymphoproliferative disorder.
Oral hairy leukoplakia (100%).
EBV-associated smooth muscle tumor (100%).

Extranodal NK/T cell lymphoma, nasal type.
Angioimmunoblastic T cell lymphoma.
EBV-associated gastric carcinoma.

Gao Review Book (2 decks)

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