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MB Exam > Disorders > Flashcards

Disorders Flashcards

1
Q

CML

A

Chronic Myelogenous Leukemia
9:22
Philadelphia chromosome
Treated with TKI

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2
Q

EWS

A

Ewing’s Sarcoma
Solid tumor cancer
11:22

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3
Q

ALL

A

Acute lymphoblastic leukemia
9:22
Found in bone marrow
High lymphoblast production pushes out other normal cell production

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4
Q

FL

A

Follicular Lymphoma
B cell
14:18 — BCL2
Defective BCL2 prevents apoptosis
Indolent

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5
Q

PML

A

Promyelocytic Lymphoma
15:17
PML and RARA genes for DNA binding proteins, translocation causes a loss of function in both

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6
Q

MCL

A

Mantle Cell lymphoma
11:14
BCL1
CCDN1

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7
Q

BL

A

Burkitt Lymphoma
8:14
C-myc

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8
Q

RMS

A

Rhabdomyosarcoma
2:13 or 1:13

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9
Q

Breast Cancer

A

HER2/neu
Ch 17
Tyrosine phosphotase
Herceptin

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10
Q

Tumor Protein 53

A

Tp53
Ch 17
Causes MSI
In 50% of all cancers

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11
Q

Breast Cancer

A

BRCA1/2 - DNA repair genes
Ch 17/14

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12
Q

Alpha Thalassemia

A

Hemaglobinopathy
Ch 16
HBA1 and 2
Excess beta chains

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13
Q

PWS

A

Prader Willi Syndrome
Ch 15
Paternal defective

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14
Q

AS

A

Angelman Syndrome
Ch 15
Maternal defective

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15
Q

KRAS

A

Solid tumor
Ch 12
Interfere MapK pathway

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16
Q

Beta Thalessemia

A

Hemaglobinopathy
Ch 11
HBB GENE

17
Q

Prothrombin

A

Hemaglobinopathy
Ch 11
Aka Factor 2
Can’t make prothrombin

18
Q

ATM

A

Ataxia telangiesctasia
Ch 11
ATM gene

19
Q

EGFR

A

solid tumor
Ch 7
Help with treatment options

20
Q

CF

A

Cystic Fibrosis
Ch 7
CFTR

21
Q

HC

A

Hemachromatosis
Ch 6
HFE gene
C282Y and H63D most common mutation
Affects iron storage

22
Q

HD

A

Huntingtons disease
Ch 4
CAG expansion
38-86 diseased

23
Q

Factor V Leiden

A

Hemaglobinopathy
Ch 1
Mutation in exon 10 1691 a to g

24
Q

MTHFR

A

Hemaglobinopathy
Ch 1
Homocysteine to methionine

25
Q

FRAGILE X

A

Ch X
CGG repeats
FMR1

26
Q

MD

A

Muscular Dystrophy
Ch X
Deletion in dystrophin

MB Exam (4 decks)

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