Molecular 3 Flashcards
Most common genetic abnormality in CCRCC
del(3p), vHL
common genetic abnormality in papillary RCC
minus Y
Xp11 translocation RCC
TFE3 gene, alveolar/papillary architecture psammoma bodies calcified capsule indolent course EMA-, CD10+
Poor prognostic factors in gliomas
retention of 1p and 19q, del(16p), LOH, EGFR amplification
most common abnormality in memingioma
monosomy 22
Ewing/PNET translocation genes
FLI1/EWS t(11;22)
Location of EWS gene
22q
gene translocation of DSRCT
EWS/WT1 t(11;22)
Clear cell sarcoma genes
EWS/ATF1 t(12;22)
poor prognosis in neuroblastoma
Myc amplification, 1p del
locaiton of WT1 gene
11p
2 syndromes having WT1 deletion
WAGR
Denys-Drash
WAGR stands for
Wilms
Aniriidia,
GU anomalies,
Retardation
Syndrome caused by WT2 mutation
Beckwith-Wiedemann
Beckwith-Wiedemann sx
macrosomia
macroglossia
hypoglycemia
Wilms, hepatoblastoma
Linkage analysis good for
unknown gene mutations
3 genes linked to early onset Alzheimers
PSEN1, PSEN2, APP
Huntington genetics
CAG repeats
CADASIL
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Migraines and TIA
HIstology of CADASIL
basal ganglio BV with eosinophilc granular medial deposits, multiple lacunar white matter infarcts
NOTCH3 gene
McLeod syndrome
acanthycytes
No Kx
neurologic dysfuntion
Charcot-Marie-Tooth
AD, peripheral neuropathy
shows onion bulb formation or axonal sprouting with atrophic axons
Inclusion body myositis presentation
foot drop. rimmed vacuoles (frozen only) with filamentous inclusions
myotonic muscular dystrophy
AR, CTG repeats
