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Rapid Fire CP Review > Rapid Review 3 > Flashcards

Rapid Review 3 Flashcards

1
Q

what kind of bonds hold pairs of complementary bases between DNA strands together?

A

hydrogen bonds

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2
Q

in ONE strand of DNA, what holds the base pairs together sequentially?

A

3’,5’-phosphodiester bonds
a phosphate group links the 3’ carbon from one sugar to the 5’ carbon of the next sugar

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3
Q

which 2 base pairs have THREE bonds between them when matched up?

and what kind of bond is it?

A

C & G have 3 hydrogen bonds between them

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4
Q

which 2 base pairs have TWO bonds between them when matched up?

and what kind of bond is it?

A

A & T have 2 hydrogen bonds between them

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5
Q

which bases are purines?

A

adenine & guanine

(PURAG)

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6
Q

which bases are pyrimidines?

A

cytosine

thymine

uracil

(CUTPY)

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7
Q

which bases have 2 rings?

A

purines - adenine & guanine (PURAG)

(2 pur for this world)

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8
Q

which bases have 1 ring?

A

pyrimidines

cytosine, thymine, uracil (CUTPY)

(you only need 1 slice of py at a time)

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9
Q

how can you tell adenine & guanine apart?

A

guanine has a double bonded O (carbonyl group) off the 6C ring

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10
Q

how can you tell cytosine/thymine/uracil apart?

A

cytosine has one carbonyl (=O) and one NH2 group

thymine has 2 carbonyls (=O) and one methyl arm

uracil has 2 carbonyls (=O)

(the carbonyl =O that they all have is between the Ns in the pyrimidine ring)

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11
Q

what’s ISO 15189:2007

A

“medical laboratories - particular requirements for quality & competence”

set of standards to promote technical competence and reliability

applies to clin labs, blood banks, HPC labs

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12
Q

true/total turnaround time starts at *** and ends at ***

A

starts at order time

ends at physician notification time

this measures all pre-, intra-, and post-analytical portions of TAT

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13
Q

which tumor marker is related to the Lewis blood antigen?

A

CA 19-9

Le- patients (black pts) don’t make Lewis and also don’t make CA 19-9

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14
Q

what does a western blot look at?

A

proteins

(they eat beef in the west)

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15
Q

what does a Northern blot look at?

A

RNA

noRth = Rna

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16
Q

what does a Southern blot look at?

A

DNA

(because they share a lot of DNA in the south)

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17
Q

what is the most common quantitative method to measure sweat chloride in suspected CF patients?

A

coulometric titration procedure

(Cl ions in sample react with silver ions from a silver electrode –> AgCl)

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18
Q

what do you need to know about the Jaffe reaction

A

measure rxn rate between 20-60 seconds (this is when Creatinine specifically reacts with picric acid)

Cr + picric acid in alkaline solution > orange-red complex > measure @ 520 nm

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19
Q

what should you use instead of GFR if your patient is 3 months old or younger?

A

cystatin C

(better indicator of renal fxn)

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20
Q

toxicity with WHAT presents like a pheochromocytoma?

A

mercury

think of the mad hatter: hypertension, tachycardia, pruritis, desquamating rash on palms, poor muscle tone

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21
Q

what’s the mutation in Wilson disease

A

ATP7B mut

autosomal recessive

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22
Q

ANA testing

what does Sjogren look like?

A

nucleolar pattern

few large dots

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23
Q

ANA testing

what does lupus look like?

A

diagnostic: rim/outline/peripheral

but can also be homogeneous

these are both c/w dsDNA

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24
Q

ANA testing

what does CREST look like?

A

centromere

(crest centromere)

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25
Q

what tumor marker should you use for pancreatic carcinoma?

A

CA 19-9

(but not in Lewis negative patients)

you can also use CEA

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26
Q

what tumor marker should you use for GI or pancreatic cancer?

A

CEA

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27
Q

what tumor marker should you use for ovarian cancer?

A

CA-125

(HE4 also but not standard)

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28
Q

what tumor marker should you use for monitoring lung cancer?

A

CEA

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29
Q

what tumor marker should you use for monitoring breast cancer?

A

CA 15.3

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30
Q

what’s the bad part about heterophile antibodies?

A

they bind to the capture AND the labeled antibodies, so you get a falsely elevated result

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31
Q

ewing sarcoma/PNET mutation

A

t(11;22) EWSR1-FLI1

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32
Q

Peutz-Jeghers

mode of inheritance

mutation

clinical

A

autosomal DOMINANT

SKT11 mut (19p13.3)

hamartomatous colon polyps, panc/breast Ca, ovarian SCTAT (sex cord tumor with annular tubules)

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33
Q

WAGR syndrome

mode of inheritance

mutation

clinical

A

sporadic?

WT1 del11p13.3

WAGR = Wilms tumor, Aniridia, GU abn, and mental Retardation

(auto dom PAX6 del11p = just aniridia)

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34
Q

Beckwith-Wiedemann

mode of inheritance

mutation

clinical

A

auto DOMINANT

mut/del of imprinted genes in 11p15.5 (CDKN1C, H19, IGF2, KCNQ1OT1)
loss of methylation @ imprinting center 2 on maternal chromosome is MC, followed by paternal uniparental disomy

macroglossia, exomphalos, gigantism, predisposition to Wilms tumor, hepatoblastoma

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35
Q

Li-Fraumeni

mode of inheritance

mutation

clinical

A

auto DOMINANT

TP53 mutation (chromosome 17 [17 x 3 = 51 lmao])

sarcomas, breast cancer, glioblastoma, adrenocortical adenoma/carcinoma, leukemia/lymphoma

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36
Q

tumor suppressor genes - name 7

A

Rb

p53

VHL

APC

BRCA2

NF1

PTCH

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37
Q

proto-oncogenes - name 6 (and an extra via fusion)

A

receptor tyrosine kinases (EGFR, PDGFR, VEGFR, Her2/neu)

RAS

WNT

MYC

ERK

TRK

extra via fusion: Philadelphia chromosome t(9;22) BCR-ABL1

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38
Q

hereditary diffuse gastric cancer

mode of inheritance

mutation

clinical

A

auto DOMINANT

CDH1 mut (usu truncating) (this is e-cadherin, duh) (chrom 16)

diffuse signet ring cell Ca of stomach, lobular breast Ca

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39
Q

Legius syndrome

mode of inheritance

mutation

clinical

A

auto DOMINANT

SPRED1 mut (chrom 15)

cafe au lait spots & macrocephaly (“NF1-lite”)

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40
Q

what are the 3 founder mutations in BRCA1/2 in Ashkenazi patients?

A

BRCA1 185delAG

BRCA1 5382insC

BRCA2 6174delT

(all 4 bases, numbers 1-8, couldn’t be worse)

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41
Q

order of appearance of Hep B labs

A
  1. HB S Ag
  2. HBe Ag
  3. total anti-Hb core
  4. anti-HbE
  5. anti-HbS
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42
Q

which blood group is H pylori associated with?

A

H & Lewis B Ag

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43
Q

which blood group is parvo associated with?

A

P ag

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44
Q

which blood group is plasmodium vivax associated with?

A

duffy

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45
Q

what are the 5 clinically significant/abnormal urine crystals?

A

ACABS

  1. amino acids (tyr, leu, cyst)
  2. cholesterol
  3. ampicillin
  4. bilirubin
  5. sulfonamides

they’re ALL ACIDIC

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46
Q

what urine crystal is this?

what does it mean?

A

amorphous urates - pink/orange, acidic urine

it means the sample sat around

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47
Q

what urine crystal is this?

what is it due to?

A

uric acid

due to gout

***birefringent under polarized light (bc gout)***

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48
Q

what urine crystal is this (and which form)?

what does it mean?

A

calcium oxalate dihydrate (octahedral [stud])

can be normal, can be ethylene glycol

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49
Q

what urine crystal is this (and which form)?

what does it mean?

A

calcium oxalate monohydrate (dumbbell)

can be normal, can be ethylene glycol

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50
Q

what urine crystal is this?

what does it mean?

A

bilirubin (can be other shapes, always yellow-brown)

liver disease

always abnormal

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51
Q

what urine crystal is this?

what does it mean?

A

tyrosine (sheaves of wheat)

sometimes seen in severe liver disease

(you see this more often than leucine bc it is less soluble in acidic urine)

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52
Q

what urine crystal is this?

what does it mean?

A

leucine (refractile yellow-brown spheres w/ lamellations)

can be seen in severe liver dz

easily mistaken for fat globules, however leucine will not stain with fat stains or appear as maltese cross under polarization

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53
Q

what urine crystal is this?

what does it mean?

A

cysteine (clear hexagon)

congenital cystinosis, cystinuria, homocystinuria (kidney damage)

can be confused with uric acid crystals - use sodium cyanide test - cysteine will be positive/purple bc cystine + cyanide > cysteine > binds to nitroprusside

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54
Q

what urine crystal is this?

what does it mean?

A

ampicillin (long thin needles)

RARE - seen with megadoses of ampicillin

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55
Q

what urine crystal is this?

what does it mean?

A

acyclovir

they’re birefringent, too

not sure what they mean other than watch out for renal injury?

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56
Q

what urine crystal is this?

what does it mean?

A

cholesterol

RARE! think nephrotic syndrome

seen with positive protein & fat droplets, fatty casts, oval fat bodies

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57
Q

what urine crystal is this?

what does it mean?

A

sulfonamide (birefringent)

RARE nowadays

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58
Q

what urine crystal is this?

what does it mean?

A

amorphous phosphates - colorless, normal!

enhanced with refrigeration

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59
Q

what urine crystal is this?

what does it mean?

A

triple phosphate/STRUVITE

coffin lids

can be normal, a/w UTIs & stones

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60
Q

what urine crystal is this?

what does it mean?

A

struvite/triple phosphate

fern leaf/feather form

can be normal or a/w UTI/stones

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61
Q

what urine crystal is this?

what does it mean?

A

calcium phosphate (aka stellar phosphate)

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62
Q

what urine crystal is this?

what does it mean?

A

ammonium biurate (thorny apple)

usually seen in OLDER specimens, only significant if in ~fresh samples

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63
Q

what urine crystal is this?

what does it mean?

A

calcium carbonate

very very smol

less fibrillar than calcium oxalate

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64
Q

how does collagen function in thrombus formation?

A
  • binds to GpVI & GpIa-IIa receptors on plt surface
    • GPVI: plt signaling & TXA2 generation
    • GpIa-IIa: plt adhesion
  • granule release & TXA2 generation
  • sustained GPIIb-IIIa activation
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65
Q

how does ristocetin cause platelet agglutination?

why not aggregation?

A

GpIb-V-IX complex & vWF

aggregation requires fibrinogen binding to GpIIb-IIIa

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66
Q

what is the key for plt aggregation in aggregometry?

A

aggregation requires fibrinogen binding to GpIIb-IIIa

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67
Q

how does ADP function in plt aggregometry?

A

binds to ADP receptor on plt > shape change > Ca release > primary wave

dense granules release ADP > secondary wave

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68
Q

what are the ADP receptors on plts?

A

GPCRs P2Y1 and P2Y12

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69
Q

target for clopidogrel

A

P2Y12 (ADP receptor on Plt)

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70
Q

what does adrenaline bind to in aggregometry?

A

alpha2-adrenergic receptor on plt surface

then mediates the same stuff as ADP (Ca release, primary wave with dense granules, secondary wave)

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71
Q

how does thrombin work in aggregometry?

A

activates plts

activates protease-activated receptors PAR1 and PAR4

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72
Q

what is this one

A

everything normal BUT high-dose ristocetin

so it’s either Bernard-Soulier or vWD 2A

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73
Q

because Bernard-Soulier and vWD 2A can have the same aggregometry, what can you do to differentiate them?

A

add plasma with vWF > this corrects the response to ristocetin in vWD 2A

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74
Q

what is this one?

A

only responded to ristocetin

Glanzmann thrombasthenia or afibrinogenemia

(bc plt agglutination with ristocetin does NOT NEED fibrinogen! so the fact that it only responded to risto means that it’s missing fibrinogen or it didn’t bind fibrinogen to GPIIb-IIIa)

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75
Q

what is this one?

A

storage pool disorder or defective nucleotide release

reversible 1st wave aggregation in ADP, adrenaline, & collagen

partial agglutination with ristocetin

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76
Q

what will aggregometry with aspirin look like?

A

NO RESPONSE TO ARACHIDONIC ACID

primary only with ADP

decreased or absent response with collagen

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77
Q

what will the aggregometry for clopidogrel look like?

A

NO RESPONSE TO ADP

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78
Q

What will the aggregometry for VWD 2B look like?

A

agglutination with low-dose risto

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79
Q

how will TEG look with anticoagulants/hemophilia/factor deficiencies?

A

decreased max amplitude

decreased angle

LONG R & K

so stretch the whole thing out

(compare top/normal to middle/anticoag; ignore bottom)

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80
Q

how will TEG for DIC look?

A

stage 1: hypercoagulable with secondary fibrinolysis (picture)

stage 2: hypocoagulable

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81
Q

how will TEG look with plt blockers?

A

normal R, normal angle (this is the main diff from anticoagulants/factor deficiencies)

prolonged K

decreased max amplitude

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82
Q

what does TEG for fibrinolysis look like?

A

R is nomral

MA will decrease quickly

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83
Q

do the TEG patterns as glasses

A

normal = brandy snifter

factor deficiency = wine glass

fibrinogen deficiency = champagne flute

thrombocytopenia/plt issue = test tube

fibrinolysis = martini glass, backward

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84
Q

what should you give a patient with a factor deficiency?

A

factor concentrate

or

FFP

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85
Q

what should you give for fibrinogen deficiency?

A

cryo

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86
Q

what should you give a patient with thrombocytopenia/thrombocytopathy (think about TEG)

A

platelets

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87
Q

what should you give a patient with fibrinolysis?

A

TXA

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88
Q

what factors are in the intrinsic pathway?

A

12, 11, 9, 8

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89
Q

what factors are in the extrinsic pathway?

A

7

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90
Q

what factors are in the common pathway?

A

10, 5

2 (pro/thrombin)

protein C > APC

protein S

thrombomodulin

1 (fibrinogen/fibrin)

13 (last)

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91
Q

what part of the clotting cascade does PT evaluate?

A

extrinsic

factor 7

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92
Q

what part of the clotting cascade does PTT evaluate?

A

intrinsic

12, 11, 9, 8

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93
Q

what drug inhibits the intrinsic pathway most?

A

heparin

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94
Q

what drug inhibits the extrinsic pathway most?

A

warfarin

(& I imagine common, bc of 2 and 10)

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95
Q

what is this

A

sporothrix schenckii

96
Q

what is this

A

sporothrix schenckii

97
Q

storage requirements

whole blood

A

1-6C

CPD/CP2D/ACD: 21 days

CPDA-1: 35 days

98
Q

storage requirements

RBCs

not frozen or irradiated

A

1-6C

CPD/CD2D/ACD: 21 days

CPDA-1: 35 days

CPD+AS1/3/5: 42 days

99
Q

what’s the biggest storage difference between whole blood and RBCs?

A

you can use additive solution (AS1/3/5) with RBCs but not whole blood

AS extends the shelf life to 42 days

100
Q

storage requirements

frozen RBCs

A

-65C or less

10 years

24 hours after thaw

101
Q

storage requirements

irradiated RBCs

A

1-6C

28 days

(irradi8ed)

102
Q

storage requirements

platelets

random

A

20-24C with agitation, 5 days

20-24C without agitation, 24 hours

after pooling: only 4 hours!

103
Q

storage requirements

platelets

apheresis

A

20-24C with agitation, 5 days

20-24C without agitation, 24 hours

104
Q

storage requirements

FFP

A

-18C or less

1 year

OR

-65C

7 years

105
Q

storage requirements

cryo

A

-18C or less

1 year

106
Q

what temp do you MAKE cryo at?

A

1-6C

107
Q

storage requirements

granulocytes

A

22-24C

24h! that’s it!

108
Q

what should you collect for postmortem evaluation of DKA?

A

vitreous

109
Q

how much iron is in one unit of RBCs?

A

200 mg

110
Q

name the defective enzyme

Tay-Sachs

A

hexosaminidase A

111
Q

name the defective enzyme

Fabry disease

A

alpha-galactosidase A

112
Q

name the defective enzyme

Gaucher disease

A

glucocerebrosidase

(beta-glucosidase)

113
Q

name the defective enzyme

metachromatic lekuodystrophy

A

arylsulfatase A

114
Q

name the defective enzyme

Krabbe

A

galactocerebrosidase

115
Q

name the defective enzyme

Niemann-Pick

A

sphingomyelinase

116
Q

which disorder has this cell?

A

Gaucher

117
Q

which disorder has these cells?

A

Niemann Pick

foam cells

118
Q

Fragile X

gene/chromosome

repeat

A

FMR1 on X

CGG repeat (fraGile in C-G)

119
Q

Friedrich’s ataxia

gene/chromosome

repeat

A

FXN/FA on chromosome 9 (friedrich has 9 letters)

GAA (the outlier)

120
Q

Huntington disease

gene/chromosome

repeat

A

HTT on chromosome 4

CAG repeat (hunter’s CAGe in C-G)

121
Q

myotonic dystrophy type 1

gene/chromosome

repeat

A

DMPK on chromosome 19

CTG

122
Q

which trinucleotide repeats are loss of function?

A

fragile X (CGG)

Friedrich ataxia (GAA)

123
Q

which trinucleotide repeats are gain of function?

A

Huntingon (CAG)

Spinocerebellar ataxia (CTG)

myotonic dystrophy type 1 (CTG)

124
Q

which trinucleotide repeat occurs in coding regions?

A

Huntington (CAG)

125
Q

which trinucleotide repeat happens in the 5’ UTR?

A

fragile X (CGG)

spinocerebellar ataxia 8 (CTG)

126
Q

which trinucleotide repeat happens in the 3’ UTR?

A

myotonic dystrophy type I (CTG)

127
Q

which trinucleotide repeat happens in an intron?

A

Friedrich ataxia (intron #1 of FA/FXN gene)

128
Q

inheritance of Huntington disease

A

autosomal DOMINANT

129
Q

inheritance of fragile X

A

X-linked DOMINANT

130
Q

what are these and what disease do you see them in?

A

zebra bodies

Niemann Pick

131
Q

accumulated substrate & inheritance

Fabry

A

ceramide trihexoside (globotriaosylceramide)

x-linked recessive

[deficiency in alpha galactosidase A]

132
Q

accumulated substrate & inheritance

Gaucher

A

glucocerebrosidase

auto recessive

[glucocerebrosidase def]

133
Q

accumulated substrate & inheritance

Niemann Pick

A

sphingomyelin

auto recessive

[sphingomyelinase def]

134
Q

accumulated substrate & inheritance

Tay-Sachs

A

GM2 ganglioside

auto recessive

[hexosaminidase A def]

135
Q

accumulated substrate & inheritance

Krabbe

A

galactocerebroside/psychosine

auto recessive

[beta-galactocerebrosidase def]

136
Q

accumulated substrate & inheritance

metachromatic leukodystrophy

A

cerebroside sulfate

auto recessive

[arylsulfatase A def]

137
Q

deficient enzyme in Hurler’s

A

alpha-L-iduronidase

138
Q

accumulated substrate & inheritance

Hurler’s

A

heparan sulfate + dermatan sulfate

auto recessive

[alpha-L-iduronidase def]

139
Q

accumulated substrate & inheritance

hunter’s syndrome

A

heparan sulfate + dermatan sulfate

x-linked recessive

[iduronate sulfatase def]

140
Q

deficiency in hunter’s syndrome

A

iduronate sulfatase

141
Q

clinical

Fabry

A

early: peripheral neuropathy, angiokeratomas, hypohidrosis
late: cardiovascular & progressive renal dz

142
Q

clinical

Gaucher

A

HSM

pancytopenia

osteoporosis + avascular necrosis of femur + bone crises

Gaucher cells

143
Q

clinical

Niemann-Pick

A

HSM

neurodegeneration

cherry-red spot on macula

foam cells

144
Q

clinical

Tay-Sachs

A

neurodegeneneration

cherry red spot on macula

lysosomes with onion skin

NO HSM

145
Q

clinical

Krabbe

A

peripheral neuropathy + destruction of oligos + optic atrophy

globoid cells

146
Q

clinical

metachromatic leukodystrophy

A

central & peripheral demyelination

ataxia + dementia

147
Q

what are these & what disease do you see them in?

A

lysosomes with onion skin

Tay-Sachs

148
Q

what are these & what disease do you see them in?

A

globoid cells

Krabbe

149
Q

which lipoprotein has the most cholesterol?

A

LDL

150
Q

which lipoprotein has the most trigylcerides

A

VLDL

(except nascent VLDL is mostly triglycerides, like chylomicrons)

151
Q

which lipoprotein has the most protein?

A

HDL

(the main protein is ApoA-1)

152
Q

what is the main component of chylomicrons?

A

triglycerides

153
Q

which lipoproteins are unaffected by fasting?

which one is absent in fasting?

A

unaffected: HDL and total cholesterol

chylomicrons are absent in fasting states

154
Q

what’s the apoprotein in LDL?

A

ApoB

155
Q

what’s the apoprotein in HDL?

A

ApoA-1

156
Q

what’s the friedelwald formula

A

LDL = total - HDL - VLDL

VLDL = trigly/5

157
Q

mechanism for statins

A

HMG-CoAR inhibitors > decrease cholesterol synthesis > increase upregulation of LDL receptor synthesis

158
Q

hyperlipidemia type 1

what is high

what’s the problem

A

high chylomicrons & triglycerides

LPL deficiency

159
Q

hyperlipidemia type 2a

what is high

what’s the problem

A

high LDL

problem with LDL receptors (mutation on either LDLR, PCSK9, or APOB)

160
Q

hyperlipidemia type 2b

what is high

what’s the problem

A

high LDL & triglycerides (familial combined hyperlipidemia)

issue with LDL receptors (mutations in LDLR, PCSK9, or APOB)

161
Q

how do PCSK9 mutations work?

A

they change the # of LDL receptors on the cell surface

GoF: fewer receptors, higher LDL in plasma

LoF: more receptors, lower LDL in plasma

162
Q

hyperlipidemia type 3

what is high

what’s the problem

A

“broad beta-VLDL” (familial dysbetalipoproteinemia)

E2 homo: higher trigly

E4 homo: higher cholesterol (Alzheimer)

163
Q

hyperlipidemia type 4

what is high

what’s the problem

A

high VLDL (familial hypertriglyceridemia) (bc VLDLs are mostly trigly)

LPL deficiency

not Mendelian

164
Q

hyperlipidemia type 5

what is high

what’s the problem

A

mixed hyperlipidemia so high chylo & high VLDL/trigly

USF1/APOA5 mut

165
Q

familial defective apolipoprotein B-100

what is high

what’s the problem

A

high LDL

APOB gene mutation > decreased LDLR affinity > more LDL in circulation

166
Q

which hyperlipidemia does NOT have an increased risk of coronary athero?

A

type 1 > hyperchylomicronemia

167
Q

primary hypoalphalipoproteinemia

what is high

what’s the problem

A

defective APOA1 gene > HDL catabolism > low HDL

168
Q

clinical presentation of Tangier disease/familial alphalipoprotein deficiency

A

orange hyperplastic tonsils, peripheral neuropathy, splenomegaly

169
Q

genetics of Tangier/familial alpha-lipoprotein deficiency

A

auto recessive

defective ABCA1 gene > cholesterol can’t get out of cells > low HDL

170
Q

what is fish-eye disease?

A

partial LCAT deficiency > affects alpha-LCAT > cholesterol can’t attach to HDL > low HDL

auto recessive

171
Q

what is complete LCAT deficiency?

A

impaired alpha & beta-LCAT > affects HDL, LDL, and VLDL

cloudy corneas, kidney issues, hemolytic anemia, HSM, LAD

172
Q

what is CETP deficiency?

A

atuo recessive

impaired cholesterol ester transfer > they stay on HDL > apoA1 is increased, HDL is increased

173
Q

what are the mismatch repair subtypes?

A

MSI-H with any BRAF = best

MSI-H BRAF-wt KRAS-wt = v good

MSS BRAF-mut = bad

174
Q

when can you NOT use anti-EGFR therapy in MMR colon cancer?

A

KRAS mut = resistance

BRAF & NRAS mut = “reduced sensitivity”

175
Q

if your MMR IHC is positive (like you have loss), how do you differentiate sporadic vs Lynch?

A

MLH1 promoter methylation = sporadic

no methylation = germline mutation = Lynch

176
Q

what is the BRAF status of Lynch colon cancer?

A

wild type

177
Q

what is the most common pathogenesis of sporadic colon cancer?

A

chromosomal instability

APC inactivation > activating KRAS mut OR BRAF mut (not both) > activating NRAS &/or PIK3CA mut

178
Q

what codon positions prevent EGFR sensitivity in sporadic colon cancer with KRAS mutations?

A

codon 12, 13, 61

179
Q

how does the sessile serrated pathway work in colon cancer?

A

CpG island hypermethylation in tumor suppressor genes + BRAF V600E mut

180
Q

what is the order of commonality of MMR gene mutations in Lynch?

A

MSH2 50%

MLH1 30-40%

MSH6 7-10%

PMS2 <5%

181
Q

T/F: Lynch syndrome patients can have BRAF-mut colon cancer

A

NO THEY CANNOT so FALSE

182
Q

Peutz-Jeghers

inheritance & gene

A

AUTO DOMINANT

STK11 mut (11 Spots on Their Kissers)

183
Q

mutation in

synovial sarcoma

A

t(X;18)

SS18 (on 18) + SSX1, SSX2, or SSX4 (all on X)

184
Q

mutation in

alveolar rhabdomyosarcoma

A

t(2;13) FOXO1(13)/PAX3(2)

or

t(1;13) FOXO1/PAX7

185
Q

mutation in

myxoid liposarcoma

A

t(12;16)

FUS(16)-DDIT3(12)

186
Q

mutation in

PNET/Ewing sarcoma

A

t(11;22)

EWS (22)/FLI1 (11)

187
Q

mutation in

hereditary diffuse gastric cancer

A

truncating mut in CDH1

188
Q

mutation in

prostate adenocarcinoma

A

UBE2L3-KRAS

(KRAS fusions)

189
Q

what is the ALK alteration you can get in lung cancer?

A

inv(2) EML4-ALK

190
Q

mutation in

ALCL

A

t(2;5) NPM1-ALK

IHC will be + in nucleus & cytoplasm (variants will be cytoplasm only)

191
Q

mutation in

inflammatory myofibroblastic tumor

A

ALK translocations

ALK is on 2

192
Q

mutation in

Glanzmann thrombasthenia

A

ITGA2B & ITGB3

193
Q

mutation in

Sturge-Weber

A

GNAQ p.R183Q

on chromosome 9

194
Q

mutation in

VHL

A

the gene is also VHL (tumor suppressor)

on chromosome 3

195
Q

mutation in

alpha 1 antitrypsin

A

SERPINA1 p.E342K

chromosome 14

196
Q

mutation in

heparin cofactor II deficiency

A

SERPIND1

chromosome 22

197
Q

mutation in

familial adenomatous polyposis

A

APC p.I1307K

(APC is a tumor suppressor)

IHC: upreg b-cat, inc cmyc & cyclinD1

198
Q

mutation in

MUTYH-associated polyposis

A

MUTYH

defective DNA damage repair

199
Q

mutation in

xeroderma pigmentosum

A

XPC, ERCC2

defective DNA damage repair/nucleotide excision repair

(less common POLH which is not nucleotide excision repair related)

200
Q

mutation in

hemochromatosis

A

HFE p.C282Y

chromosome 6

201
Q

mutation in

sporadic & familial neuroblastoma

A

ALK p.R1275Q

ALK is on chromosome 2

202
Q

mutation in

factor V Leiden

A

FVL mutation @ APC cleavage site (1691G>A)

(chromosome 1)

much worse with prothrombin G20210A mutation

203
Q

mutation in

familial hypocalciuric hypercalcemia

A

CASR gene on 3q

204
Q

BRCA1 specific mutations in Ashkenazi Jewish pts

A

185delAG

5382insC

205
Q

mutation in

GIST

A

GoF in KIT

(chrom 4)

206
Q

mutation in

piebaldism

A

LoF in KIT

(chrom 4)

207
Q

mutation in

NF1

A

von Recklinghausen so chromosome 17

NF1 = neurofibromin = RAS inhibitor

mut = RAS activation > neurofibromas

208
Q

mutation in

NF2

A

NF2 so chromosome 22

merlin/schwannomin mut = LoF in contact inhibition = uncontrolled prolif

209
Q

mutation in

Legius syndrome

A

SPRED1

(chrom 15)

(NF1 lite)

210
Q

mutation in

Costello syndrome

A

HRAS

(chrom 11)

auto DOMINANT

[faciocutaneoskeletal syndrome: cutis laxa, papillomata, palmoplantar hyperkeratosis, cardiomegally, macrocephaly/acromegalic]

211
Q

what genes are the cardiofaceocutaneous and Noonan syndromes associated with?

A

KRAS

NRAS

HRAS (Costello)

BRAF

MEK2

(oncogenes!)

212
Q

mutation in

Smith-Magenis syndrome

A

del17p11.2

either del or mut RAI1

213
Q

mutation in

cockayne syndrome

A

auo recessive

ERCC6 or ERCC8

chromosome breakage syndrome

214
Q

mutation in

ataxia telangiectasia

A

auto recessive ATM mut

inc freq of tri-radial, ring, translocated chromosomes induced by ionizing radiation or bleomycin

(chromosome breakage syndrome)

215
Q

mutation in

Fanconi anemia

A

auto recessive FANCA, FANCC, FANCG mut

chrom breakage syndrome a/w treatment with mitomycin c/d

weird THUMBS, markedly inc risk for AML & MDS > pancytopenia > marrow failure

216
Q

mutation in

Diamond-Blackfan anemia

A

mut in RPS19 (ribosomal subunit protein)

pure red cell aplasia > MDS & AML

cleft palate, extra fingies

(diamond ring on your finger, black BM bc no RBCs)

217
Q

what’s the name of the inherited bone marrow failure syndrome that has issues with telomere maintenance?

A

dyskeratosis congenita

TERT, TERC, DKC1, or TINF2 genes

218
Q

which bone marrow failure syndrome has pancreatic insufficiency?

A

Schwachman-Diamond syndrome

219
Q

mutation in

Schwachman-Diamond syndrome

A

mutation in the Shwachman-Bodian-Diamond syndrome (SBDS) gene on chromosome 7

220
Q

which inherited disorder has issues with nucleotide excision repair?

A

xeroderma pigmentosum

nucleotide excision repair removes thymine dimers, photoproducts, chemical adducts, and cross-links

221
Q

mode of inheritance for xeroderma pigmentosum

A

auto recessive

9 genees in nucleotide excision repair are involved and I am not going to remember them

222
Q

what’s the most common genetic disorder in Puerto Rico?

A

Hermansky-Pudlak

223
Q

mutation/mode of inheritance in

Hermansky-Pudlak

A

auto recessive

many genes, most are HPS#

224
Q

what should you look for on flow in Hermansky-Pudlak?

A

decreased/absent CD63

225
Q

mutation in

Kallman syndrome

A

KAL1 gene (delXp22.3)

hypogonadism & anosmia (GnRH neurons stay in olfactory bulbs & never migrate to hypothalamus)

[this is the same delXp22.3 as ichthyosis]

226
Q

mutation in

ichthyosis

A

delXp22.32

steroid sulfatase gene (STS)

[this is the same delXp22.3 as Kallman]

227
Q

mutation in

retinoblastoma

A

del13q14.1-q14.2

RB1 is on 13q

228
Q

mutation in

Beckwith-Wiedemann

A

del/mut of imprinted genes within 11p15.5

***MC: loss of methylation at imprinting center 2 (IC2) on maternal chromosome

[Russell-Silver has issues with the same locus and also imprinting]

229
Q

mutation in

DiGeorge syndrome

A

del22q11.2

DGS1 or DGS2

1.5-3.0 megabase hemizygous deletion

physical manifestations: haploinsufficiency of TBX1

230
Q

mutation in

cat eye syndrome

A

supernumerary marker chromosome from chrom 22

231
Q

what is the most common inherited disorder of the peripheral nervous system?

A

charcot-marie-tooth

232
Q

what is the most common genetic mutation in charcot-marie-tooth?

A

dup/mut of PMP22 on 17p12

type 1A - auto DOMINANT

233
Q

mutation in

Williams syndrome

A

deletion on chrom 7

ELN

234
Q

mutation in

WAGR

also what does that stand for?

A

WT1 or PAX6 del11p13.3

Wilms - Aniridia - GU malformations - mental Retardation

235
Q

mutation in

Wolf-Hirschorn

A

4p-

236
Q

mutation in

cri-du-chat

A

del5p15 (5p-)

237
Q

mutation in

Miller-Dieker/lissencephaly

A

del17p13.3

LIS1

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