Pediatric Pathology Flashcards
Define malformation
Primary error of morphogenesis (intrinsic abnormal developmental process)
Examples of malformation
Syndactyly
Polydactyly
Cleft lip
Cleft palate
Congenital heart disease
Define disruption
Secondary destruction of a previously normal organ or body region
Example of disruption
Amniotic bands
Define deformation
Structural anomalies secondary to abnormal mechanical forces
Examples of deformation
Clubfoot due to bicornuate uterus
Oligohydramnios
Define sequence
Cascade of anomalies triggered by 1 initiating aberration
Describe Potter sequence
Chronic oligohydramnios causes:
1. Flattened facies with compressed nose and low set ears
2. Small chest circumference (pulmonary hypoplasia)
3. Clubfeet
4. Hip dislocation
Most common cause of death in Potter sequence
Pulmonary hypoplasia
Characteristic placental finding in oligohydramnios
Amnion nodosum
Define malformation syndrome
Constellation of congenital anomalies believed to be pathologically related that cannot be explained on the basis of a single, localized, initiating effect
Common causes of a large placenta
- Twin pregnancy
- Maternal DM
- Chronic intrauterine infections
- Severe maternal or fetal anemia
- Rh incompatibility
- Heavy smoking
- Placental chorangiomas
Common causes of a small placenta
- IUGR
- Chromosomal abnormalities
- Intrauterine infection
- Pre-eclampsia
Mechanisms of microorganism transmission via cervicovaginal route
- Infected birth canal
- Inhaling infected amniotic fluid
Infections associated with plasma cells in placenta
- CMV
- Syphilis
List chronologic sequence of ascending infection
- Involving only free membranes near cervical os
- Subchorionic intervillositis
- Chorionitis
- Chorioamnionitis
- With funisitis
Type of placenta associated with twin-twin transfusion
Monochorionic
Type of placenta associated with monozygotic twins
Monochorionic
Clinical significance of velamentous cord insertion
Tearing during labor and delivery
Clinical significance of complete circumvallate placenta
Increased frequency of:
1. LBW
2. Antepartum bleeding
3. Premature labor
4. Fetal hypoxia
Type of seizures in eclampsia
Tonic-clonic seizures
Define HELLP syndrome
Epigastric pain in pre-eclamptic patients:
1. Hemolytic anemia
2. Elevated liver enzymes
3. Low platelet
Pathologic placental findings in pre-eclampsia
- Small placenta
- Multiple infarcts
- Decidual vasculopathy (smooth muscle presists, thrombosis, acute atherosis)
- Villous hypermaturity
Types of extrachorial placenta
- Circumvallate
- Circummarginate
Example of malformation syndrome
Down syndrome
Define agenesis
Absence of organ primordium
Define aplasia
Failure of organ primordium to develop beyond primitive form
Define atresia
Abnormal absence or closure of an organ orifice or passage
Limitations of abortus tissue for cytogenetic analysis?
- Contamination with maternal cells
- Fetal cells must be viable (grown in culture for metaphase)
Estimate fetal death before delivery?
0-1 day: red skin with slippage, peeling
2-7 days: red serous fluid, extensive peeling
>14 days: yellow-brown liver, mummification, FVM findings
Findings in Trisomy 13 (Patau syndrome)
CNS: absence of olfactory bulbs, microophthalmia
Face: Microcephaly, cleft lip and palate
Polydactyly
VSD, PDA, ASD
Single umbilical artery
Findings in Trisomy 18 (Edward)
Face: small mouth, micronagthia, low set ears
Hands/Feet: short dorsiflexed toe, index finger overlaps third finger
Valvular abnormalities
SGA, short sternum
Findings in Trisomy 21
CNS: open operculum in brain
Face: flat facies, oblique palpebral fissure, epicanthal folds
Hands/feet: Simian crease, sandal deformity
Heart: ASD, VSD
Findings in Monosomy X
Nuchal cystic hygroma
Marked edema of dorsal faces
Coarctation of the aorta
Genetic abnormalities in Turner syndrome
50% monosomy X
50% partial or complete deletion of small arm of X or mosaics
Manifestations of Turner in adolescent girls and young women
- Short stature
- Hypogonadism
- Streak ovaries
- Failure of development of secondary sex characteristics
- Short webbed neck
- Broad chest, widely spaced nipples
- CHD
- Melanocytic nevi
Genetic abnormalities in Down
95% Trisomy 21
3% translocations
2% mosaics
Risk factor for Down
Maternal age >45 years
Later manifestations of Down syndrome
- Increased chances of acute leukemia (usually lymphoblastic)
- Alzheimer changes in the brain
- Diminished life expectancy
Main autopsy findings in congenital HSV
Microcephaly
Hydrocephaly
Microphthalmia
Main autopsy findings in congenital CMV
Microcephaly
Hydrocephaly
Microphthalmia
Giant cell hepatitis
Cholangitis
Viral inclusions in lung and kidneys
Arterial and periventricular calcification
Main autopsy findings in congenital toxoplasmosis
Usually asymptomatic
Severe: Hydrocephaly or microcephaly, intracranial calcifications, hepatosplenomegaly, jaundice, chorioretinitis, CSF pleocytosis
List 5 well documented teratogens
- Thalidomide
- Folate antagonists
- Ethanol
- Androgenic hormones
- Warfarin
- Retinoic acid
- Valproic acid
Teratogen example and outcome
Valproic acid - homeobox protein transcription, important for limb, vertebrae, and craniofacial development
Fetal alcohol syndrome vs fetal alcohol spectrum disorders?
FASD - only subtle cognitive or behavioral defects
FAS - growth retardation, microcephaly, ASD, short palpebral fissures, maxillary hypoplasia
List the types of twin placentation
Dichorionic diamniotic twin placentas (2 discs).
Dichorionic diamniotic twin placenta (fused, 1 disc).
Monochorionic diamniotic twin placenta.
Monochorionic monoamniotic twin placenta.
Describe chronic histiocytic intervillositis (CHI)
Defined as an infiltrate of histiocytic-predominant mononuclear cells in the intervillous space
Clinical manifestations of preeclampsia
- Pregnancy induced hypertension and proteinuria develop after 20 gestational weeks
- Subcutaneous edema
- Epigastric pain/liver tenderness
Placental gross and histologic findings of preeclampsia
- Small
- Multiple infarcts
- Decidual vasculopathy: lack of physiologic conversion (smooth muscle persists), thrombosis, and acute
atherosis (fibrinoid necrosis plus macrophages) - Accelerated villous maturation
Excess exposure to retinoic acid?
Craniofacial defects (cleft lip and palate)
CNS defects
Heart defects
Deficiency of retinoic acid
Ocular, genitourinary, cardiovascular, pulmonary, and diaphragmatic malformations
Risk period for rubella
Until 16 weeks AOG
(especially first 8 weeks)
Tetrad of congenital rubella
- Cataracts
- Congenital heart defects (persistent ductus arteriosus, pulmonary artery stenosis, ventricular septal defect,
and tetralogy of Fallot) - Deafness
- Mental retardation
Neonatal HSV findings at autopsy?
- Hepatoadrenal necrosis
- Vesicular skin rash
- Vesicular/ulcerated stomatitis, esophagitis
- Necrotizing pneumonitis
- Chorioretinitis
Infection of parvovirus B19 in childhood
erythema infectiosum
Infection of parvovirus B19 in pregnancy
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.
Types of hydrops fetalis
Severe: hydrops fetalis, generalized edema
Less severe: pleural effusion, peritoneal effusion, cystic hygroma
Major causes of nonimmune hydrops
- Infections other than parvovirus — CMV, syphilis, toxoplasmosis
- Malformations — especially thoracic (e.g., congenital pulmonary airway malformation, diaphragmatic hernia)
or urinary tract. - Twin-twin transfusion.
- Metabolic disorders
Define immune hydrops
Hemolytic disorder caused by blood group antigen incompatibility between mother and fetus
Why is Rh disease uncommon in the first pregnancy
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
Describe prophylaxis for immune hydrops
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
Why does maternal-fetal ABO incompatibility not cause problems?
- Most anti-A and anti-B antibodies are IgM and don’t cross the placenta.
- Neonatal RBCs express A and B blood group antigens poorly.
- Fetal cells other than RBCs express them and can absorb transferred antibodies.
Under what circumstances is ABO hemolytic disease of the newborn most likely to occur
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
2 common signs and symptoms of excessive destruction of red blood cells in neonates
- Anemia
- Jaundice
Define SIDS
Death of an infant < 1 year that cannot be explained by clinical
history, examination of the death scene, or autopsy
What is the distinction between SIDS and SUID?
SUID stands for sudden unexpected infant death — a subset of these are true SIDS cases
3 risk factors in triple-risk model of SIDS
(1) a vulnerable infant
(2) a critical developmental period in homeostatic control
(3) an
exogenous stressor
Risk factors
- Young maternal age (< 20 years).
- Maternal smoking during pregnancy.
- Drug abuse in either parent.
- Short intergestational intervals.
- Late or no prenatal care.
- Poverty.
- Brainstem abnormalities with associated defective arousal and cardiorespiratory control.
- Prematurity and/or low birth weight.
- Male sex.
- Product of a multiple birth.
- SIDS in a prior sibling.
- Germline polymorphisms in autonomic nervous system genes.
- Antecedent respiratory infections.
- Prone or side sleeping position.
- Sleeping on a soft surface.
- Co-sleeping in first 3 months of life.
- Hyperthermia.
List causes of respiratory distress syndrome
- Neonatal respiratory distress syndrome (hyaline membrane disease).
- Excessive sedation of the mother.
- Fetal head injury, or aspiration of blood or amniotic fluid, at delivery.
- Cord accident causing intrauterine hypoxic insult
Gross features of RDS in newborns
- Normal size, solid and not aerated
- Poorly-aerated, do not float in water
- Reddish purple color like normal liver
List at least 3 risk factors for neonatal hyaline membrane disease
- Preterm delivery (but weight appropriate for gestational age).
- Caesarean delivery.
- Male infant.
- Diabetic mother
Microscopic features of RDS
- Poorly developed alveoli
- Collapsed alveoli
- Pink hyaline membranes
Infants who recover from RDS are at increased risk for what conditions
- Patent ductus arteriosus.
- Intraventricular hemorrhage.
- Necrotizing enterocolitis.
- Retinopathy of prematurity (retrolental fibroplasia).
- Bronchopulmonary dysplasia
What lecithin/sphingomyelin ratio is protective
> 2:1
List 2 serious complications of oxygen therapy
Retrolental fibroplasia (retinopathy of prematurity).
Bronchopulmonary dysplasia
Complication of NEC after survival
Fibrotic structures
Clinical signs of NEC
- Bloody stools
- Abdominal distention
- Circulatory collapse
- X-ray: Gas in intestinal wall (pneumatosis intestinalis)
Gross findings in NEC
Distended, friable, congested bowel
Usually in TI, cecum, ascending colon
Etiology of NEC
- Alteration of the microbiome associated with enteral feeding seems likely.
- Infectious agents (none uniformly cultured) may also contribute.
- Increased mucosal permeability due to elevated inflammatory mediators such as platelet activating factor
(PAF) permits migration of gut bacteria
Genetics of Gaucher
- Autosomal recessive
- Mutations in gene encoding glucocerebrosidase
- Results in glucocerebrosides (from dying RBCs, WBCs) accumulate in cels
Types of Gaucher disease
- Type 1 = chronic nonneuronopathic, with reduced but detectable enzyme levels, Ashkenazi, splenomegaly
- Type 2 - acute neuronopathic with hepatosplenomegaly and progressive CNS involvement
- Type 3 - systemic involvement, like Type 1, subacute neuronopathic
Genetics of phenylketonuria
- Autosomal recessive
- PAH gene mutation
- Cannot convert phenylalanine to tyrosine, have hyperphenylalaninemia
Consequences of PKU
Normal at birth but severe mental retardation at 6 months
Brain - decreased weight, defective myelination, gliosis
Clinical presentation of PKU
- Seizures and other neurologic abnormalities.
- Decreased pigmentation of hair and skin (due to a deficiency of tyrosine, a precursor of melanin).
- A musty odor.
- Eczema.
How is PKU diagnosed in a newborn
Neonatal screening of a blood spot
Other problem with PKU (not PAH)
Enzyme cofactor tetrahydrobiopterin (BH4)
2% of cases
Cannot be treated by dietary restrition
Uncontrolled maternal PKU in pregnancy?
Metabolites can cross placenta and cause:
1. Microcephaly
2. Mental retardation
3. CHD
Genetics of galactosemia
- Autosomal recessive
- From accumulation of galactose-1-phosphate because not converted to glucose
- Either deficiency of galactokinase or galactose-1-phosphate uridyl transferase (GALT, severe)
Consequences of GALT deficiency
- G1P in liver, eyes, brain
- Failure to thrive from birth
- Vomiting and diarrhea on milk
- Jaundice, hepatomegaly
- Cataracts
- Mental retardation
- Aminoaciduria due to impaired kidney function
- Hemolysis and coagulopathy
- E. coli septicemia due to impaired neutrophilic bactericidal activity
- If older - speech disorder, gonadal failure, ataxia
Describe the locations of first, second, and third branchial cleft cysts
1: Adjacent to EAC, pinna, or parotid
2. From persistence of cervical sinus
3. Rare, lateral neck
Embryogenesis of thyroglossal duct
Vestigial remnant of the tubular development of the thyroid gland
Histologic findings
- +/- thyroid follicles
- midline neck, anterior to trachea
- may have squamous or respiratory columnar epithelium
Pulmonary histology of CF
- Bronchioles distended with thick mucous.
- Marked hyperplasia and hypertrophy of mucous secreting cells lining the respiratory tract.
- Chronic bronchitis, bronchiectasis, and abscesses.
3 most common infectious organisms for CF patients and a fourth group of highly problematic
organisms
- S. aureus
- H. influenzae
- P. aeruginosa
- Burkholderia cepacia - cepacia syndrome, necrotizing pneumonia
Most common causes of CF death in North America
- Chronic lung infections, obstructive pulmonary disease, and cor pulmonale (80% of deaths).
- Complications post lung transplantation.
- Liver disease (adults).
Classification of CF mutations
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)
Prognosis of CF mutations (based on classifications)
1-3: severe, pancreatic insufficiency, sinopulmonary infections, GI symptoms
4-6: mild
Explain the role of genetic and environmental modifiers in the pulmonary manifestations of CF
Genetics - can affect neutrophil function
Environmental - bacteria producing alginate use gel for protection against cellular or humoral immune response
Gene and chromosome number in CF
cystic fibrosis transmembrane conductance regulator (CFTR) gene
Chromosome 7
Function of CFTR protein
Forms a chloride channel
Also regulates other channels
Relevance of bicarbonate ion transport in CF
If affected: in pancreas, epithelial secretions are too acidic, pancreatic ducts are plugged with mucin, and exocrine pancreas become atrophic
Pathogenesis of Hirschsprung
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
Genetic abnormality in Hirschsprung?
- Sporadic
- LOF mutation in RET
Incidence of Hirschsprung
1 in 5000 births, increased in Down’s
2 major histologic features in colonic resections with Hirschsprung disease
- Ganglion cells are absent in submucosal (Meissner) plexus and myenteric (Auerbach) plexus.
- Hypertrophic nerve fibers in submucosa are usually present
Name an immunohistochemical stain that can help diagnose Hirschsprung disease
Calretinin
- reactive small fibers in LP and MM in normal bowel
Define heterotopia or choristoma
Microscopically normal cells or tissues present in abnormal locations
Examples of heterotopia
- Pancreatic tissue in the wall of the small intestine.
- Pancreatic or gastric tissue in a Meckel diverticulum.
- Adrenal cortical rests in a variety of sites, such as adjacent to a gonad.
- Thymic rest adjacent to the thyroid.
Clinical significance of heterotopia
Can give rise to a primary
neoplasm in an unexpected site
Define hamartoma
Focal overgrowth of normal, mature cells or tissues native to an organ, but not reproducing the
normal architecture of the surrounding normal tissue
List 3 types of benign tumors in infancy and childhood
- Hemangioma
- Lymphangioma
- Fibromatosis/congenital-infantile fibrosarcoma
Strange features of hemangioma in infancy vs childhood
- Capillary hemangiomas can be more cellular
- Hemangiomas can be due to an underlying hereditary disorder
- Infantile hemangioma can regress spontaneously
Prognosis of fibromatosis/congenital-infantile fibrosarcoma
Good prognosis
Chromosomal translocation in fibromatosis/congenital-infantile fibrosarcoma
t(12;15)
ETV6-NTRK3
Constitutively active through PI3/AKT pathway
Teratomas can be mixed with what other GCT
YST
Embryonal carcinoma
Sacrococcygeal teratomas are often associated with what?
Congenital anomalies (sacral body defect, in hindgut or cloacal region)
Most common type of leukemia in kids
Acute lymphoblastic leukemia
Differentials of small round blue cell tumors in head
medulloblastoma
atypical teratoid/rhabdoid tumors (AT/RT)
neuroblastoma
retinoblastoma
olfactory
neuroblastoma (esthesioneuroblastoma)
rhabdomyosarcoma
Differentials of small round blue cell tumors in thorax
Askin tumor (malignant small cell tumor of thoracopulmonary origin, Ewing family of tumors)
rhabdomyosarcoma lymphoma
pleuropulmonary blastoma
Differentials of small round blue cell tumors in abdomen
neuroblastoma
rhabdomyosarcoma
lymphoma
Wilms tumor
Ewing sarcoma
desmoplastic small
round cell tumor
Molecular prognosticators for neuroblastoma
MYCN amplification
1p deletion
11q deletion and/or 17q gain
DNA index
Molecular prognosticators for Burkitt
c-MYC gene (chromosome 8)
translocations
t(2;8), t(8;14), or t(8;22)
Molecular prognosticators for alveolar rhabdomyosarcoma
PAX3/FOXO1 fusion gene, t(2;13)
PAX7/FOXO1 fusion gene, t(1;13) - better prognosis
Molecular prognosticators for Ewing sarcoma
EWSR! gene on chr 22 and FLI1 (chr 11)
ERG - chr 21
Fusion for desmoplastic small round blue cell tumor
EWS/WT1 fusion
List 3 histologic features of neuroblastoma
- Nesting pattern: usually ill-defined organoid nests with thin fibrovascular septa.
- 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. - Schwannian stroma: < 50% of the tumor
The INPC distinguishes between 2 prognostic groups of untreated neuroblastoma?
Favorable histology (FH)
Unfavorable histology (UH)
Basis of INPC classification
Schwannian stroma
Ganglionic differentiation
Mitotic and
karyorrhectic index (MKI)
Patient age
INPC classifications
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)
Tumor stage (International Neuroblastoma Risk Group Staging System [INRGSS]) parameters for neuroblastoma
Pretreatment imaging
Patient age
Clinical extent of disease
Tumor stage INRGSS
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
Prognostic parameters of low-risk or intermediate-risk neuroblastoma
<18 months of age
Hyperdiploid chromosomes
Prognostic parameters of high-risk neuroblastoma
> 18 months of age
Segmental chromosome abnormalities (gains/losses)
MYCN gene amplification
Key genomic characteristics of neuroblastic tumors
- MYCN
- ALK - familial predisposition
- ATRX - older children
- DNA index - near diploid/tetraploid is unfavorable
- Hemizygous deletion of distal short arm of chromosome 1
- Segmental chromosome aberrations - 1p deletion, 11q del, 17q gain
- Alterations in numbers of whole chromosomes (lower risk tumors)
Positive IHC in rhabdomyosarcoma
Desmin, MSA, myoD1, myogenin
Positive IHC in neuroblastoma
PGP9.5, NB84, synaptophysin, NSE
List 2 biochemical markers for neuroblastoma
- vanillylmandelic acid (VMA)
- homovanillic acid (HVA)
Urine/blood
Catecholamines may not be increased in undifferentiated neuroblastomas
3 key syndromes associated with Wilms tumor
- WAGR
- Denys-Drash
- Beckwith-Wiedemann syndrome (BWS)
Characteristics of WAGR syndrome
Wilms, aniridia, genitourinary anomalies, mental retardation (intellectual disability)
Mutations in WAGR
Germline deletion of WT1 and PAX6 (aniridia)
Characteristics of Denys-Drash syndrome
Wilms tumor
Gonadal dysgenesis
Early-onset nephropathy (diffuse mesangial sclerosis)
Syndrome with Wilms and high risk for gonadoblastoma
Denys-Drash syndrome
Mutation in Denys-Drash
Germline dominant–negative missense mutation in the zinc-finger region of WT1
- interferes with the function of the other normal allele
Characteristics of Beckwith-Wiedemann syndrome (BWS)
Macrosomia
Organomegaly
Macroglossia
Hemihypertrophy
Omphalocele
Adrenal cytomegaly
Affected genes in Beckwith-Wiedemann syndrome
WT2 locus, IGF-2 in this region
Imprinting in BWS
- Re-expression of maternal allele of IGF-2 (loss of imprinting)
- Duplication of transcriptionally active paternal allele (uniparental paternal disomy)
Presence of anaplasia in Wilms correlates with?
p53 mutations
chemotherapy resistance
Histologic features in Wilms
Blastemal (sheets of small blue cells)
Stromal (fibroblastic, myxoid, occasionally skeletal muscle)
Epithelial (abortive tubules and glomeruli)
Precursor of Wilms
Nephrogenic rests
Significance of nephrogenic rests
Increased risk of developing Wilms in contralateral kidney
Site of Ewing sarcoma in bone
Medullary cavities
Sites of predilection
Long bones
Pelvis
Radiologic findings of Ewing
- Destructive lytic tumor extending to soft tissue
- Elevation of periosteum
- Onionskin layering
Histologic findings of Ewing sarcoma
Sheets of uniform small round blue cells.
Homer-Wright rosettes.
Sparse intercellular stroma.
Few or no mitoses.
Intracytoplasmic glycogen (clear cytoplasm).
CD99+
List tumors with involvement of EWSR1 gene
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
Clinical presentation of ABC
- First 2 decades of life
- Rapid onset of pain and swelling
Where does ABC most commonly arise?
Long bones (metaphysis)
Radiologic findings in ABC
X-ray: sharply defined, expansile osteolytic lesion with thin sclerotic borders.
CT: fluid-fluid levels.
Differential diagnosis of ABC
- Telangiectatic osteosarcoma.
- Giant cell tumor.
- Non-ossifying fibroma
- Fracture
Genetic basis of ABC
Rearrangements of chromosome 17p13 lead to USP6 overexpression
What type of virus is ABC
Herpes-type virus
Pathogenesis of EBV
Infects B lymphocytes and epithelial cells
viral glycoprotein gp350 and CD21 on lymphocytes
EBV gene products in EBV infected cells
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)
5 diseases associated with EBV infection
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.
