What is placentomegaly and what are it's two main associations?
>600 g (Fetal:Placental weight ration less than 3:1)--THINK MATERNAL DIABETES AND BECKWITH-WEIDEMANN SYNDROME Most often due to villous edema; also severe maternal anemia, fetal anemia, fetal hydrops, congenital syphilis/TORCH
What is the characteristic placental lesion associated with oligohydramnios?
Amnion nodosum – granular, pick off, associated with chronically decreased amnionic fluid (renal agenesis, premature or prolonged amniorrhea, donor of twintwin transfusion or other congenital anomaly)
What organisms cause placental intervillous abscesses and septic infarcts?
Listeria monocytogenes and Campylobacter fetus
What organism causes yellow, punctate microabscesses on surface of umbilical cord;?
Candida ("peripheral funisitis")
What organism causes a characteristic light green color to the placenta?
What two organisms are known to cause necrotizing funisitis?
Syphilis and HSV
If you see placental diffuse lymphohistiocytic inflammation, “diffuse sclerosing villitis”, what organisms should you think of?
TORCH (lymphoplasmacytic inflammation associated with syphilis, CMV, HSV, Rubella; plasma cells associated with CMV)
What organism causes chronic (histiocytic) intervillositis?
Malaria (has malarial pigment!--blue black granular pigment)
What is the formula for calculating Kleihauer-Betke acid elution technique to quantify volume of fetomaternal hemorrhage by staining for cells containing fetal hemoglobin in the maternal circulation?
percentage of fetal blood loss = (3200 x fetal cell count)/(fetal weight kg x maternal cell count)
What placental lesion is can be associated with HELLP syndrome and is characterized by recurrent reproductive failure, severe normotensive intrauterine growth retardation; anomalous procoagulant expression on trophoblast, inappropriate secretion of fibrinoid?
Massive Perivillous Fibrinoid (Maternal Floor Infarction)
What is the definition of chorangiosis?
>10 capillary vessels in 10 tertiary villi under 10x in multiple fields Associated with associated with maternal diabetes, placentomegaly, delayed villous maturation, and chronic villitis
What are the placental associations with fetal neurological impairment?
Severe chorioamnionitis, Extensive avascular villi, Diffuse chorioamnionic hemosiderosis
What are the fetal anomalies associated with a single umbilical artery?
~20% have associated fetal anomalies: cardiovascular, GI, esophageal atresia, renal defects, multiple anomaly syndromes, TRISOMY 18
What are the microscopic characteristics of a partial mole?
DIMORPHIC population of large and small villi without intermediate forms, irregular villous contours often with MULTICELLULAR TROPHOBLAST INCLUSIONS within villous stroma
What are the physical characteristics of Trisomy 13 (Patau Syndrome)?
Cleft lip/palate, polydactyly, scalp defects, micropthalmia, sloping forehead, hypertelorism and proboscis (long nose)
What are the physical characteristics of Trisomy 18 (Edwards Syndrome)
Prominent occiput, micrognathia, rocker bottom feet, short sternum, narrow pelvis, clenched fists with overlapping second and 5th fingers, short dorsiflexed first toe, partial syndactyly of toes, upturned nares
What disease is associated with orange sand uric acid crystals found in diaper?
Lesch Nyhan Syndrome (X linked, affects males)
What gene is associated with Hirschsprung's?
Which two pediatric tumors have a t(12;15) translocation?
Congenital mesoblastic nephroma and fibrosarcoma
Which 3 pediatric tumors share t(11;22) translocation?
Ewings, PNET and Desmoplastic Small Round Cell Tumor (but has a different breakpoint than Ewing's and PNET)
What syndrome can hepatoblastoma be associated with?
FAP (Familial Adenomatous Polyposis)
What does the VATER syndrome stand for?
vertebral or vascular, anal, tracheo-esophageal, renal or radial anomalies
What are the good prognostic indicators in pre B-ALL?
Hyperdiploidy 51-65 (DI 1.16 – 1.6) t(12;21)(p12;q22) TEL-AML1
What are the bad prognostic indicators in pre B-ALL?
t(1;19) E2A-PBX Hypodiploidy
BQ! What disease is this EM showing?
Fabry’s Disease: X-linked lysosomal storage disease that is caused by deficient activity of lysosomal enzyme α -galactosidase A. Abnormal storage product, “zebra
bodies” are seen in a podocyte.
What heart abnormality is seen in Turner's?
Preductal coarctation of the aorta
They also get single umbilical artery
What are the 4 components of Tetralogy of Fallot?
Right to left shunt
– Overriding aorta
– Pulmonary valve stenosis
– Ventricular septal defect
– Right ventricular hypertrophy
What is the syndrome associated with WT1? WT2?
WAGR syndrome (WT-1)
– Wilms tumor
– Genital anomalies
– Mental Retardation
Beckwith-Wiedemann syndrome (WT-2)
• Wilms tumor
• Congenital anomalies
– Midline abdominal wall defects
• Ear abnormalities
• Neonatal hypoglycemia
What is the MOST IMPORTANT factor in prognosis of neuroblastoma that trumps everything else?
Age of the patient (THE most impt)
<1yr do ok
Good prognosis: hyperdiplioid, no structual chr abnormalities and expression of TrkA neurotrophin receptor
What is the gene mutation associated with transient leukemia/transient myeloproliferative disorder in Down's syndrome?
GATA1 gene mutation
This tumor from the finger of a young child has a VERY characteristic appearance of these spindle cells with eosinophilic hyaline globules. What is the tumor?
This pediatric liver tumor shows poorly differentiated spindle cells. What is the tumor and what is its unique staining pattern?
Undifferentiated Embryonal sarcoma (UES)
Vimentin, alpha-1-antitrypsin and alpha-1- antichymotrypsin +
What pediatric soft tissue tumor has characteristic dot like staining with desmin?
Desmoplastic small round blue cell tumor
What are some poor prognostic factors in neuroblastoma?
MYC-N amplification (>10 copies/cell)
Chromosome 1p36.3 or 11q23 deletion and gain of 17q
*although not formally used in risk stratification, chr 11q loss, unlike 1p loss, is seen in ABSENCE of NMYC amplification and may be independent marker of prognosis in NMYC non amplified diploid cases
Near-diploid DNA content (patients <18 months with metastatic disease)
*tend to express TrkB neurotrophin and BDNF
What is the most common solid tumor in childhood?
*less than 1 year old is neuroblastoma
What hereditary disease causes cholesterol accumulation in fixed tissue macrophages, shows this "zebra body storage" on EM and usually die before 3yo with cerebral atrophy?
Sphingomyelinase deficiency (sphingomyelin accumulates in macrophages and neurons)
What is the most common congenital cardiac malformation? Most common congenital cardiac anomaly?
• “VSD is most common congenital cardiac malformation”
• “ASD is most common congenital cardiac anomaly, usually asymptomatic until adulthood”