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120 Cards in this Set
- Front
- Back
what
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choanal atresia, can be a/w CHARGE - Coloboma, Heart defect, choanal Atresia, Retardation, Genital, Ear anomaly
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what
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extralobar pulmonary sequestration
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major cause of intralobar pulmonary sequestrations
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repeated bouts of pneumonia
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histologic findings in pulmonary sequestration
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prominent vessels (b/c systemic supply)
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histology of bronchogenic cyst
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respir epith with smooth muscle directly underneath
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what
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pulmonary hypoplasia, note small acini
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what
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cpam two additional types (type 0- acini don't form and type 4 peripheral cyst
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what
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cpam - no cyst >2 cm and not microcystic so type II
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what
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cpam type II
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what, causes
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something that compresses bronchus, infantile lobar emphysema
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three big problems facing prematuriry (<37 weeks)
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intraventricular hemorrhage (from germinal matrix)
necrotizing enterocolitis hyaline membrane dz |
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what
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bronchopulmonary dysplasia - following RDS, alternative areas of scarring/alveolar hyperinflation and compression
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where is diaphragmatic hernia most found
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posterior lateral, left>right
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what
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pleuropulmonary blastoma: malignant mesenchymal tumor
more cystic in younger, more solid in older (usu <4 yrs) (note: rhabdo focus in D) |
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who think of
Aortic coarctation- |
Turner syndrome
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who think of
• Anomalies of the aortic arch: |
Del 22q syndrome
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who think of• Malformations of the AV septum
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Down syndrome
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four parts of tetraology of fallot
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Infundibular pulmonic stenosis
Aortic valve dextroposition Ventriculoseptal defect Right ventricular hypertrophy |
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what does hypoplastic left heart syndrome need
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PDA
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if you have complete transposition of vessels - what do you need
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VSD
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what is Heterotaxy syndrome
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paired organs have mirror images
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histological word association, syndromic associaiton: rhabdomyoma
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TS, spider cells
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most common place for duplications in GI tract
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ileum
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what
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duplication of GI tract
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what
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duplication histologically
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most common congenital anomaly of GI tract
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Meckel's, vitelline duct remnant
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what
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intussuception
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underlying cause of hirschsprung's
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failure of neural crest cells to migrate (wks 5-12)
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syndromic association with Hirschsprung's dz
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down's
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what
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hirschsprung's
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histologic fx of hirschprungs
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submucosa as thick as mucosa
hyperplastic peripheral nerves aganglionic ACE stain shows nerve fibers extending into lamina propria |
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fx of Allergic proctocolitis
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usu develp by 6 months, very often outgrow (can mimic hirschsprungs)
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two HLA types for celiac
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HLA-DQ2 and HLA-DQ8
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protein reacting to in celiac
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gliadin, a prolamin (gluten protein)
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associated immunologic d/o in celiac
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IgA deficiency
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ab in celiac
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Tissue transglutaminase-TTG,
antigliadin endomysial Abs |
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most common polyp in kids
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juvenile polyp
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increased risk of ca with solitary juvenile polyp?
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nope
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where are juvenile polyps most frequently found
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distal
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what
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juvenile polyp
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what
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inflammatory pseudopolyp
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what
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juvenile polyposis syndrome (not clusters like PJ polyp and larger so maybe not FaP)
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cf age of onset juvenile polyposis syndrome vs. fap
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jp syndrome: childhood, fap adolescence
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mutations for juvenile polyposis
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SMAD-4 (18q21.1) and BMPR1A (10q22.3)
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mean age of cancer development in juvenile polyposis
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30's
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transmission and gene in peutz-jeghers
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Autosomal dominant
• SKT11 gene (19p13.3) |
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what
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peutz-jegher polyp
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where peutz-jegher polyp arise
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Jejunum, ileum, duodenum, colon, stomach
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what, what gene
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fap, APC, czome 5?
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what, associations
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PPI, FAP
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what, associations
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ganglioneuroma, cowden, NF1
if diffuse, thickening of muscularis: think NF1 and MENIIb |
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what, associations
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neonatal hepatitis
infectious!! CMV • Rubella • Hepatitis B • Herpes simplex • Varicella • Coxsackie • Echo |
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histologic fx of neonatal hepatitis
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gc formation,
cholestasis hepatocyte ballooning acidiphil bodies inflammation |
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Most frequent cause of liver transplantation in children
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extrahepatic biliary atresia
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can you get kernicterus in biliary atresia
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not usually, can still conjugate bilirubin
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what
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extrahepatic biliary atresia:
bile duct proliferation Ductal bile plugs Portal fibrosis |
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what is choledochal cyst
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cystic dilation of biliary duct
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what is caroli's dz
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Cystic dilatation of intra hepatic biliary ducts
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what is alagille syndrome
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- bile duct paucity
- congenital heart - butterfly bone shape to some of vertebral bodies - eye defects, etc. AD disease JAG1 mutations |
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what
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liver of AR PKD, congenital hepatic fibrosis, see white streaks?
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what
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congenital hepatic fibrosis: Portal fibrosis with dilated biliary channels
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what
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caroli's disease
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if you don't die of fulminant liver dz in infancy with a1 antitrypsin deficiency, what can happen to liver as adult
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HCC
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what affect does OCPs have on FNH in liver
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no increase of incidence, may increase bleeding
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what
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FNH
a lobular proliferation of bland-appearing hepatocytes with a bile ductular proliferation and malformed vessels within the fibrous scar |
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Most common liver tumor
of early childhood |
hepatoblastoma
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four syndromes associated with hepatoblastoma
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Familial adenomatous polyposis
Beckwith-Wiedemann Syndrome Li-Fraumeni syndrome: Trisomy 18: |
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what
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hepatoblastoma, embryonal
be aware can have mesenchymal component to any of hepatoblastoma forms |
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some important causes of renal dysplasia (read through)
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Tuberous sclerosis complex
• von Hippel-Lindau syndrome • Beckwith-Wiedemann syndrome • DiGeorge syndrome • Prune-belly sequence • Trisomies 13, 18, and 21 • Fetal alcohol syndrome • Diabetic embryopathy |
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what and histologic findings
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renal dysplasia, bland epith, benign intervening stroma, can see cartilage, etc.
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gene and gene product of AR PKD
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PKHD1 (6p21) Fibrocystin
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gene and gene product of of AD PKD
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PKD1 (16p13.3) Polycystin-1
PKD2 (4q13-4q23) Polycystin-2 |
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what, what findings in liver
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AR PKD, congenital hepatic fibrosis
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what
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AD PKD
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clinical course, associations
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aggressive (often mets/LVI), hemoglobinopathies (includ c)
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three elements to Wilms
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blastema, epithelial, stroma
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three major syndromes associated with wilms
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beckwith-wiedemann
Denys-Drash WAGR |
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what
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wilms
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what
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wilms
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Most common
renal tumor of infancy |
mesoblastic nephroma
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two types of mesoblastic nephroma and cytogenetic findings
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1. more fibromatosis
2. cellular, like infantile fibrosarcoma t (12;15) |
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what
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mesoblastic nephroma
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what
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mesoblastic nephroma
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cf teratomas in ovary and testis
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ovary: most are pure and immature neuroepithelium dictates prognosis
testis: rarely pure, usually component of mixed GCT; age is decider of outcome: prepubertal benign, postpubertal malignant |
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standout ihc: seminoma
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PLAP, CD117, OCT 3/4,
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standout ihc: embryonal ca
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PLAP, CD30, OCT 3/4
others: CK7+, AE1/AE3 |
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standout ihc: yolk sac
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AFP, AE1/AE3
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standout ihc: chorioca
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HCG, CEA, inhibin
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what
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yolk sac, hyaline globules, microsieve pattern
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what
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embryonal ca - ugly overlapping cells
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most common site, gender for teratoma
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girls, sacrococcygeal (take coccyx to avoid recurrence/yolk sac/endodermal sinus tumor
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most common malignant tumor in childhood
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brain
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second most common malignant tumor in childhood
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neuroblastoma
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most common site of neuroblastoma
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adrenal
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genetic findings of neuroblastoma
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17q gain
1p deletion Nmyc amplification DNA hyperdiploidy |
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high risk neuroblastoma fx
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• Stage 3 or 4
• Age 1-5 yr • Schwannian stroma-poor, GNB nodular, unfavorable subset • Nmyc amplified • 17q gain common • loss of 1p common |
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Characteristic translocations involve EWS
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22q12 with either
FLI1 (90-95%) 11q24 or ERG gene at 21q22 |
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bad prognostic factors for Ewing's/PNET
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• > 18 years
• Pelvis • Tumor > 8cm greatest dimension • Metastatic disease present at diagnosis • < 90% necrosis following chemotherapy • Type 2 EWS-FLI1 fusion transcript |
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what
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ewings/pnet with PAS stain
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top two sites for rhabdomyosarcoma
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H&N
GU |
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immunophenotype for rhabdomyosarcoma
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myogenin, myoD1, desmin in alveolar (embryonal doesn't stain as well)
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which is more aggressive alveolar or embryonal rhabdomyosarcoma
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alveolar, which, unlike embryonal, tends to be more in exxtremities
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specific cytogenetic alterations in rhabdomyosarcoma (and importantly which subtype)
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• t(2;13)(p35;q14)
• t(1;13)(p36;q14) ASSOCIATED WITH ALVEOLAR |
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where does malignant rhabdoid tumor arise
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kidney, cerebellum
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what is the important ihc for rhabdoid tumors
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loss of INI1 staining: SMARCB1) on chromosome 22q
classic tumor suppressor gene |
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if this is rhabdoid tumor what is the ihc
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loss of INI1
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cytogenetic abnormality in infantile fibrosarcoma (and what other two tumors)
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t(12;15) with novel fusion protein (TEL (ETV6) with NTRK3)
• Same translocation as in cellular mesoblastic nephroma and secretory carcinoma breast |
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cytogenetic abnormality in secretory carcinoma breast
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t(12;15) with novel fusion protein (TEL (ETV6) with NTRK3)
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what
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infantile fibrosarcoma, t(12;15)
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sites for above, what
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langerhans histiocytosis
bone, skin, lung, LN |
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what are the langerhans cells involved in
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ag presentation
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ihc for langerhans
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S100, CD1a, langerin
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EM: pentilaminar invaginations of cell membranae
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birbeck granules,
LCH |
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most common pediatric tumor
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hemangioma
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which hemangiomas involute: congential or infantile
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infantile
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which hemangiomas express glut1: infantile or congenital
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infantile (the ones that involute)
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what
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kaposiform hemangioendothelioma
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what
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lipoblastoma
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what
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fibrous hamartoma of infancy
fibrous and adipose tissue and nests of immature mesenchyme |
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3 year old, sma+
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myofibroma
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