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1
Q

Define malformations, disruptions, deformations and give and example of each

A

Malformation: Primary error of morphogenesis in which there is an intrinsically abnormal developmental process. Example congenital heart disease
Disruption: Secondary destruction of organ or body region that was previously normal. Example amniotic band
Deformation: Extrinsic disturbance of development rather than intrinsic error of morphogenesis. Example clubfoot due to oligohydramnios

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2
Q

Define hamartoma, choristoma, heterotopia, ectopia, sinus, fistula

A
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3
Q

Define sequence and malformation syndrome and give an example of each

A

Sequence - cascade of anomalies initiated by a single aberration. Example Potter’s sequence
Malformation syndrome: group of congenital anomalies that may be pathologically related but do not result from a single aberration. Example Down’s syndrome

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4
Q

Describe Potter squence

A

Chronic oligohydramnnios causes fetal compression.
Flattened facies
Small chest circumference with pulmonary hypoplasia
Talipes equinovarus/clubfeet
Hip dislocation
Amnion nodosum is characteristic

Pulmonary atresia
Oligo
Twisted skin/facies
Extremity deform
Renal agen

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5
Q

Define agenesis, aplasia, atresia, hypoplasia, hyperplasia, hypertrophy, hypotrophy

A

Agenesis: absence of organ primordium
Aplasia: Failure of organ primordium to develop beyond its primitive form
Atresia: abnormal absence of closure of an organ orifice or passage
Hypoplasia - under of incomplete development or decreased size due to decreased number of cells
Hyperplasia - increased size of an organ due to increased number of cells
Hypertrophy - increased size of organ due to increase size of cells
Hypotrophy - decreased organ size due to decreased cell size

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6
Q

Reasons to examine a placenta

A

Obtain information useful in management of mother, neonate, or future pregnancies
Identify pathology
Assess neonatal risk for sequelae
Exclude retained placenta
Explain adverse outcomes

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7
Q

How to differentiate between an artery and vein on chorionic plate at gross

A

Arteries cross over veins

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8
Q

Common causes of large placenta

A

Twin pregnancy
Placental edema
Maternal DM
Chronic intrauterine infection
Severe fetal anemia
Rh incompatibility
Fetal alpha-thal major
Placental chorangiomas
Metabolic storage disease

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9
Q

Common causes of small placenta

A

IUGR
Chromosomal anomalies
Intrauterine infection
Maternal vascular palperfusion

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10
Q

Gross and histologic findings of placenta infarct

A

Colour depends on age of infarct
Wedge-shaped but vili immediately beneath chorionic plate spared
Coagulative necrosis of group of vili
Intervillous spaces patent early but later filled by fibrin and obliterated
Adjacent villi have increase syncytial knots

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11
Q

Broad categories of organisms transmitted to fetuses by cervicovaginal (ascending route)

A

Mostly bacterial but some viral (eg HSV2)

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12
Q

Mechanism of ascending intrauterine infection

A

Inhalation of infected amniotic fluid
Passing through infected birth canal during delivery

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13
Q

Chronological sequence of placental histologic findings in ascending intrauterine infection

A

Acute subchorionitis
Acute chorionitis
Acute chorioamnionitis
Acute chorioamnionitis with acute chorionic vasculitis, umbilical cord vasculitis, and funisitis

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14
Q

What broad categories of maternal blood-borne infections can be transmitted to the fetus via the placenta? What is the main histological feature?

A

Infections - parasitic and viral, few bacterial (syphilis, listeria)
Histology - chronic villitis, multifocal
- plasma cells suggest CMV
- Listerosis = multifocal acute villitis with microabscesses

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15
Q

Types of twin placentation

A

Dichorionic diamniotic, 2 discs or 1 fused disc
Monochorionic diamniotic
MonoMono

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16
Q

Gross findings of twin placentation

A

1 or 2 discs
Dividing membrane - thick and opaque (dichorionic) or thin and translucent (monochorionic)
Monochorionic - look for twin to twin transfusion syndrome (arteriovenous vascular anastamosis)

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17
Q

Histology of dividing membrane of monochorionic vs dichorionic placenta

A

Monochorionic - no chorionic tissue in dividing membrane
Dichorionic - amnion chorion amnion

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18
Q

Zygosity determination

A

Twins different sex - dizygotic
Placenta monochorionic - monozygotic
Placenta dichorionic - 80% dizygotic

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19
Q

Features of chronic histiocytic intervillositis

A

Infiltrate of histiocyte-predominant mononuclear cells in intervillous space
Represents abnormal cell-mediated immune response at maternal-fetal surface
Associated with adverse fetal outcome, including first and second trimester miscarriage and impaired growth
25% recurrence rate
Sometimes with massive perivillous fibrin deposition

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20
Q

Massive perivillous fibrin deposition vs maternal floor infarct

A

Massive perivillous fibrin deposition - >50% of placenta, tends to be thick, firm, pale
Maternal floor infarction - layer of fibrin deposition surrounding basal villi with other villi spared
Both associated with second trimester fetal loss, IUGR, and chronic histiocytic intervillositis, tend to recur

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21
Q

Gross and microscopic features and clinical significance of chorangiomas

A

Gross - well demarcatd, firm round nodules, may be in placental slices or bulging/pedunculated on surface. Often dark red
Microscopic - capillary-sized vessels and scanty stroma, may have foci of infarction
Clinical significance - small ones are insignificany, large ones may cause polyhydramnios, obstruction, fetal cardiomegaly or anemia

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22
Q

Gross and microscopic features and clinical significance of velamentous cord insertion

A

Gross - umbilical cord inserts into and traverses the free membranes
Micro - chorionic vessels seen in membrane roll
Clinical significance - susceptible to tearing during labor and delivery, associated with SGA babies

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23
Q

Gross and microscopic features and clinical significance of circumvallate placenta

A

Gross - placental membranes fold in on themselves forming a raised white ring at the junction of extraplacental membranes and fetal surface. Can be complete or partial
Micro - fibrin and infarcted chorionic villi folded over surface with double membranes
clinical significance - Increased frequency of low birth weight, perinatal mortality, antepartum bleeding, premature labour, fetal hypoxia

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24
Q

Clinical manifestations of preeclampsia

A

Pregnancy-induced hypertension and proteinuria develop after 20GW
Subcutaneous edema
Epigastric pain/liver tenderness common in preeclampsia pts with HELLP syndrome

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25
Placental gross and histologic findings in preeclampsia
Small placental size Multiple infarcts due to maternal vascular malperfusion Decidual arteriopathy Accelerated villous maturation
26
Why do cytogenetic analysis of abortus tissue
~50% of early pregnancy losses have chromosomal anomalies Analysis may provide insight for parents regarding recurrence Usually only medically indicated when 3 or more pregnancy losses
27
Limitations of cytogenetic analysis for abortus tissues
Fetal tissue may be contaminated by maternal cells Needs viable tissue for karyotyping as that requires tissue culture - recently largely replaced by RAD
28
Pathologist's role in cytogenetic analysis for abortus tissue
Examine to select appropriate tissue Can submit representative tissue to confirm viability
29
Value of performing autopsies on macerated stillborn fetuses
Demonstrate presence or absence of malformations which may suggest an inheritable condition Demonstrate present or absence of infection Presence or absence of intrauterine stress - thymic involution, mec aspiration, pseudofollicular changes in adrenal cortex Determine approx age of fetus, IUGR Status of fetus when infection started - eg presence of fetal response indicates fetus was alive Predict outcome of future pregnancies | Inheritable condition Infection Fetal stress Status of fetus visavis inf
30
Estimation of duration of fetal death before delivery
Degree of maceration - mild 0-1 day: red skin with slippage and peeling - mod 2-7day: extensive peeling and red serous fluid in chest and abdomen, calvarial slippage - severe >14d: yellow-brown liver +/- mummification Presence of diffuse avascular villi and obliteration of stem vessels >2 weeks
31
Common autopsy findings in intrauterine/neonatal death in trisomy 13
Patau syndrome - microphthalmia, iris coloboma, incomplete forebrain - microcephaly, cleft lip/palate, cyclopia and proboscis - polydactyly - VSD, PDA, ASD - SGA, inguinal hernia, single umbilical artery
32
Common autopsy findings in intrauterine/neonatal death in trisomy 18
Edward syndrome - small mouth, micrognathia, low set ears - overlapped fingers, short dorsiflexed toe - valvular abnormalities, ASD, VSD, PDA - SGA, short sternum
33
Common autopsy findings in intrauterine/neonatal death in trisomy 21
Down syndrome - open operculum - flat facies, oblique palpebral fissues, epicanthal folds - simian crease, short metacarpals and phalanges, sandal deformity - AVSD, VSD - SGA
34
Common autopsy findings in intrauterine/neonatal death in monosomy X
Turner syndrome - nuchal cystic hygroma - marked edema or dorsal surfaces - Coarctation of aorta - SGA, generalized hydrops, normal ovaries at birth
35
Genetic abnormalities in turner syndrom
50% of cases - complete monosomy X 50% of cases - partial monosomy X or mosaics
36
Manifestations of turner syndrome in adolescents
Short stature hypogonadism streak ovaries failure to develop 2ary sex characteristics short webbed neck broad chest with widely spaced nipples congenital heart disease melanocytic nevi
37
Genetic abnormalities in down syndrome
95% T21 (meiotic nondisjunction) 3% translocations 2% mosaics
38
Main autopsy findings in congenital herpes
Microcephaly, hydrocephaly, microphthalmia
39
Main autopsy findings in congenital CMV
Microcephaly, hydrocephaly, microphthalmia necrotizing meningoencaphalitis arterial and periventricular calcs giant cell hepatitis, cholangitis viral inclusions in lungs, kidneys
40
Main autopsy findings in Congenital toxoplasmosis
Mostly asymptomatic Severe: hydrocephaly, microcephaly, intracranial calcs, hepatosplenomegaly, jaundice, chorioretinitis Visible organisms in multiple organs and tissues
41
Impact of timing of exposure to teratogens on severity of fetal anomalies
0-3wk GA: severe insult will result in abortion, less severe no apparent effect 3-9wk GA: organogenesis = very susceptible >9wk: organogenesis complete, already formed organs susceptible to growth retardation and damage
42
Well documented tertogens
Thalidomide Folate antagonists Ethanol Androgenic hormones Warfarin Retinoid acid Valproic acid
43
Classic findings in fetal alcohol syndrome
Growth retardation Microcephaly ASD Short palpebral fissures maxillary hypoplasia
44
Phenotype of excessive and deficiency in retinoic acid during embryogenesis
Excess - cleft lip/palate, CND defects, cardiac defects Deficiency - ocular, GU, CV, pulmonary malformations
45
Characteristic findings in congenital rubella
Tetrad - cataracts, congenital heart defects, deafness, mental retardation
46
At risk period for congenital rubella
Shortly before conception to 16th wk GA, highest first 8 weeks
47
Main autopsy findings in neonatal death following intrapatrum HSV infection
Hepatoadrenal necrosis Vesicular skin rash Vesciular/ulcerated stomatitis, esophagitis Necrotizing pneumonitis Chorioretinitis
48
Consequences of Parvovirus B19 infection during pregnancy vs childhood
Pregnancy - mostly normal, rarely congeital anemia, hydrops fetalis, spontaneous abortion Childhood - erythema infectiosum
49
Most severe and lesser severity forms of fetal hydrops
Most severe = hydrops fetalis Less severe = pleural effusion, ascites, cystic hygroma
50
3 major broad categories of nonimmune hydrops and example of each
Structural/functional cardiovascular defects Chromosomal (turner) Fetal anemia (homozygous alpha-thal, parvo)
51
Less common causes of nonimmune hydrops
Infections other than parvo (CMV, syph, toxo) Malformations esp thoracic and urinary tract Twin to twin transusion Metabolic disorders
52
Define immune hydrops
Hemolytic disorder caused by blood group antigen incompatibility between mother and fetus
53
Etiology and pathogenesis of immune hydrops
Rh+ fetus Rh- mother Rh+ RBCs pass to maternal blood, starts to develop anti-D Abs, which can cross placenta and cause lysis of fetal RBCs
54
Why is Rh disease uncommon in first pregnancy
Maternal exposure to fetal RBCs doesn't happen til last trimester when placental villi cytotrophoblasts are absent or during delivery. Initial exposure is IgM which doesn't cross placenta
55
Prophylaxis for immune hydrops
Rh- mothers receive rhesus immune globulin containing anti-D antibodies at 28 wk gestation and within 72h of delivery
56
Difference between fetal hemolysis in maternal-fetal ABO incompatibility and Rh incompatibility
ABO incompatibility usually has no adverse effect - most Anti-A and anti-B Abs are IgM and don't cross placenta Neonatal RBCs express A and B antigens poorly Fetal cells other than RBCs can express A and B and can absorb transferred antibodies
57
Under what circumstances is ABO hemolytic disease of the newborn most likely to occur
Group A or B infants born to group O mothers who possess preformed A/B IgG Abs
58
Changes in incidence of immune hydrops
Formerly most common cause of fetal hydrops but not nonimmune has surpassed it
59
2 common signs/symptoms of destruction of RBCs in neonates
Anemia Jaundice
60
Define SIDS
death of infant <1y that cannot be explained by clinical hx, examination of death scene, or autopsy
61
Distinction between SIDS and SUID
SUID - sudden unexpected infant death - subset of these are SIDS Discovery of a cause of death makes the death SUID
62
Triple risk model of SIDS
SIDS happens when three overlapping factors intersect 1. Vulnerable infant 2. critical developmental period in homeostatic control 3. exogenous stressor
63
Risk factors for SIDS
Young maternal age 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 multiple birth SIDS in prior subling Germlind polymorphisms in autonomic nervous system genes Antecedent respiratory infections Prone or side sleeping position Sleeping on a soft surface Cosleeping in first three months of life Hyperthermia
64
Most common pediatric age range for leukemia
0-9
65
Most common pediatric age range for retinoblastoma
0-4
66
Most common pediatric age range for neuroblastoma
0-9
67
Most common pediatric age range for Wilms tumor
0-4
68
Most common pediatric age range for hepatoblastoma
0-4
69
Most common pediatric age range for HCC
5-14
70
Most common pediatric age range for soft tissue sarcoma
all ages
71
Most common pediatric age range for teratoma
0-4
72
Most common pediatric age range for CNS tumors
0-9
73
Most common pediatric age range for Ewing sarcoma
5-14
74
Most common pediatric age range for Osteogenic sarcoma
10-14
75
Most common pediatric age range for thyroid CA
10-14
76
Most common pediatric age range for lymphoma
5-14
77
Most common pediatric age range for Hodgkin lymphoma
10-14
78
DDx of pediatric SRBCTs of the head
Medulloblastoma, ATRT, neuroblastoma, retinoblastoma, olfactory neuroblastoma, rhabdomyosarcoma
79
DDx of pediatric SRBCTs of the thorax
Ewings family, rhabdomyosarcoma, lymphoma, pleuropulmonary blastoma
80
DDx of pediatric SRBCTs of the abdomen
Neuroblastoma, rhabdomyosarcoma, lymphoma, wilms, Ewing sarcoma, DSRCT
81
Histologic features of neuroblastoma
Nesting pattern - ill-defined organoid nests with thin fibrovascular septae Neuroblasts at varying stages of differentiation Schwannian stroma <50% of the tumor
82
DDx of neuroblastoma
Lymphoma Ewing sarcoma Rhabdomyosarcoma Desmoplastic small round cell tumor Wilms tumor
83
INPC classification of neuroblastoma
Distinguishes two prognostic groups - FH and UH Classified by amount of schwannian stroma, nodular vs non, ganglionic differentiation, mitotic rate and karyorrhectic index (MKI) and pt age - Neuroblastoma schwannian stroma poor: undiff, poorly diff, differentiating - Ganglioneuroblastoma, nodular - Ganglioneuroblastoma, intermixed - Ganglioneuroma
84
Key prognostic parameters in neuroblastoma
Tumor stage and extent of disease - Stage L1: localized and not involving vital structures - Stage L2: locoregional tumor with presence of at least one image-defined risk factors - Stage M: distant metastatic disease except stage MS - Stage MS: metastatic disease in children <18mo with mets confined to skin, liver, bone marrow
85
Genomic characteristics of neuroblastic tumors
MYCN amplification: most prognostically relevant - associated with high risk neuroblastic tumors and poor pt prognosis ALK mutation and amplification: seen in pts with familial predisposition to neuroblastic tumors - associated with higher risk and worse prognosis ATRX: 2-3% - majority of high-stage tumors in older children DNA index: near diploid/tetraploid unfavourable, hyperdiploid better prognosis
86
IHC in neuroblastoma
PGP9.5+, NB84+, synaptophysin and NSE
87
Biochemical markers for neuroblastoma
VMA, HVA Catecholamines may not be increased in undifferentiated neuroblastoma
88
Histologic features in Wilms and how histologic impacts prognosis
Classic triphasic appearance: blastema, stroma, epithelial components, percentage of each highly variable. May have heterologous elements Prognosis - Presence of anaplasia (giant cells and abnormal mitoses) correlates with p53 mutations and chemo resistance, even with no extrarenal spread
89
Define nephrogenic rests
Abnormally persistent clusters of embryonal kidney cells, putative precursor lesions of wilms tumor. Seen adjacent to 25-40% of unilateral tumors and nearly 100% of bilateral
90
Significance of nephrogenic rests
Patients have increased risk of developing wilms in contralateral kidney
91
Sites of predilection for Ewing sarcoma
Long bones Pelvis Likes to arise in medullary cavities
92
Radiologic findings in Ewing sarcoma
Destructive lytic tumor extending into soft tissue Elevation of periosteum "Onionskin" layering
93
Histologic features of Ewing sarcoma
Sheets of uniform small round blue cells Homer-wright rosettes Sparse intercellular stroma Few or no mitoses Intracytoplasmic glycogen CD99+, vimentin+
94
Cytogenetics of Ewing sarcoma
95% involve t(11;22) translocation EWSR1-FLI1, some involve EWSR1-ERG
95
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
96
Presentation and treatment for aneurysmal bone cyst
Occurs in first two decades of life Rapid onset of pain and swelling Common treatment is curettage and bone graft
97
Where does aneurysmal bone cyst commonly arise
Long bones (metaphysis) in 50-60% Vertebrae and sacrum in 20-30%
98
Radiologic findings of ABC
x-ray: sharply defined, expansile osteolytic lesion with thin sclerotic borders CT: fluid-fluid levels
99
Gross and histologic findings of ABC
Honeycombing and cystic spaces Septi of solid and hemorrhagic tissue Cystic spaces filled with blood and separated by septa containing fibroblasts, osteoclast-like giant cells and woven bone Numerous hemosiderin-laden macrophages Reactive bone formation
100
DDx of ABC
Telangiectatic osteosarcoma Giant cell tumor
101
Pathogenesis of ABC
Rearrangements of chromosome 17 lead to USP6 overexpression Secondary ABC (non-neoplastic) do not have USP6 rearrangements
102
Diseases associated with EBV infection
Infectious mononucleosis Burkitt lymphoma Nasopharyngeal carcinoma Chronic active EBV infection Hodgkin lymphoma (mixed cellularity 70%, lymphocyte poor 40%) Primary CNS lymphoma PTLD Oral hairy leukoplakia EBV-associated smooth muscle tumor Extranodal NK/T cell lymphoma, nasal type Angioimmunoblastic T cell lymphoma EBV-associated gastric carcinoma
103
Histologic features of desmoplastic small round cell tumor
Well defined nests of small round cells separated by desmoplastic stroma Uniform cells with small hyperchromatic nuclei, inconspicuous nucleoli, scant cytoplasm and indistinct cytoplasmic borders
104
IHC of desmoplastic small round cell tumor
WT1+ (C terminus) Desmin+ (dot-like perinuclear cytoplasmic) Keratin+ (dot like cytoplasmic) Vimentin+ (dot like cytoplasmic)
105
Genetic anomaly in desmoplastic small round cell tumor
EWSR1-WT1
106

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