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Clinical Pathology > Molecular 3 > Flashcards

Molecular 3 Flashcards

1
Q

Most common genetic abnormality in CCRCC

A

del(3p), vHL

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2
Q

common genetic abnormality in papillary RCC

A

minus Y

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3
Q

Xp11 translocation RCC

A 
TFE3 gene,
alveolar/papillary architecture
psammoma bodies
calcified capsule
indolent course
EMA-, CD10+
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4
Q

Poor prognostic factors in gliomas

A

retention of 1p and 19q, del(16p), LOH, EGFR amplification

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5
Q

most common abnormality in memingioma

A

monosomy 22

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6
Q

Ewing/PNET translocation genes

A

FLI1/EWS t(11;22)

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7
Q

Location of EWS gene

A

22q

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8
Q

gene translocation of DSRCT

A

EWS/WT1 t(11;22)

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9
Q

Clear cell sarcoma genes

A

EWS/ATF1 t(12;22)

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10
Q

poor prognosis in neuroblastoma

A

Myc amplification, 1p del

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11
Q

locaiton of WT1 gene

A

11p

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12
Q

2 syndromes having WT1 deletion

A

WAGR

Denys-Drash

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13
Q

WAGR stands for

A

Wilms
Aniriidia,
GU anomalies,
Retardation

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14
Q

Syndrome caused by WT2 mutation

A

Beckwith-Wiedemann

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15
Q

Beckwith-Wiedemann sx

A

macrosomia
macroglossia
hypoglycemia
Wilms, hepatoblastoma

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16
Q

Linkage analysis good for

A

unknown gene mutations

17
Q

3 genes linked to early onset Alzheimers

A

PSEN1, PSEN2, APP

18
Q

Huntington genetics

A

CAG repeats

19
Q

CADASIL

A

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Migraines and TIA

20
Q

HIstology of CADASIL

A

basal ganglio BV with eosinophilc granular medial deposits, multiple lacunar white matter infarcts
NOTCH3 gene

21
Q

McLeod syndrome

A

acanthycytes
No Kx
neurologic dysfuntion

22
Q

Charcot-Marie-Tooth

A

AD, peripheral neuropathy

shows onion bulb formation or axonal sprouting with atrophic axons

23
Q

Inclusion body myositis presentation

A 
foot drop.
rimmed vacuoles (frozen only) with filamentous inclusions
24
Q

myotonic muscular dystrophy

A

AR, CTG repeats

25
Q

Treatment for malignant hypertension

A

Dantrolene

26
Q

Defect in malignant hypertension

A

calcium channel RYR1

27
Q

Brugada syndrome

A

sudden unexpected nocturnal death syndrome

SCN5A, 3p, alpha subunit of Na channel

28
Q

Arrhythmogenic right ventricular dysplasia

A

AD, ARVD gene 1q

29
Q

Romano-Ward syndrome

A

most common inherited Long QT syndrome

30
Q

Jarvell + Lange-Nielson syndrome

A

Long QT with bilateral sensorineural hearing loss

31
Q

Lesch-Nyhan

A

hypoxanthine guanine phosphoribosyltransferase

hyperuricemia

32
Q

Fabry dz

A

alpha-galacrosidase
angiokeratomas
peripheral neuropathies

33
Q

Prader-Willi

A

Paterally derived 15q11.2

34
Q

Angelman

A

maternally derived 15q11.2

35
Q

Fragile X

A

CGG repeats

Clinical Pathology (59 decks)

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