Genes, Hlas, Antibodies

Front 1

APC

Back 1

Familiar colon cancer syndromes

Front 2

CFTR gene deletion

Back 2

Cystic fibrosis

Front 3

Dystrophin gene deletion

Back 3

Duchenne muscular dystrophy

Front 4

FMR 1

Back 4

Fragile X syndrome

Front 5

Deficient or absent androgen receptor gene

Back 5

Testicular feminization or androgen insensitivity syndrome (AIS)

Front 6

Hemochromatosis

HLA?

Back 6

A3

Front 7

Psoriasis
Ankylosing spondylitis
Inflammatory bowel disease
Reiter's syndrome

HLA?

Back 7

B27

Mnemonic - PAIR

Front 8

Graves' disease

HLA?

Back 8

B8

Front 9

MS
hay fever
SLE
Goodpasture's

HLA?

Back 9

DR2

Front 10

Diabetes mellitus type 1

HLA?

Back 10

DR3

Front 11

RA
diabetes mellitus type 1

HLA?

Back 11

DR4

(DM type 1 also has DR3)

Front 12

Pernicious anemia --> B12 deficiency
Hasimoto's thyroiditis

HLA?

Back 12

DR5

Front 13

Steroid-responsive nephrotic syndrome

HLA?

Back 13

DR7

Front 14

Gain of function --> oncogene. How many alleles must be damaged for this to happen?

Back 14

one

Front 15

CML

What oncogene is associated and what is that gene's product?

Back 15

abl --> tyrosine kinase

Front 16

Burkitt's lymphoma

What oncogene is associated and what is that gene's product?

Back 16

c-myc --> transcription factor

Front 17

Follicular and undifferentiated lymphomas

What oncogene is associated and what is that gene's product?

Back 17

bcl-2 --> anti-apoptotic molecule

Front 18

Breast, ovarian, and gastric carcinomas

What oncogene is associated and what is that gene's product?

Back 18

erb-B2 --> tyrosine kinase

Front 19

Colon carcinoma

What oncogene is associated and what is that gene's product?

Back 19

ras --> GTPase

Front 20

Lung tumor

What oncogene is associated and what is that gene's product?

Back 20

L-myc --> transcription factor

Front 21

Neuroblastoma

What oncogene is associated and what is that gene's product?

Back 21

N-myc --> transcription factor

Front 22

Multiple endocrine neoplasia (MEN) types II and III

What oncogene is associated and what is that gene's product?

Back 22

ret --> tyrosine kinase

Front 23

Gastrointestinal stromal tumor (GIST)

What oncogene is associated and what is that gene's product?

Back 23

c-kit --> Cytokine receptor

Front 24

Deletion of tumor suppressor gene WT1 on chromosome 11p

Back 24

Wilms' tumor (nephroblastoma)
- most common renal malignancy in childhood (age 2-4)
- presents with huge, palpable flank mass and/or hematuria

Part of WAGR complex

Front 25

This autoantibody is associated with which disease(s)?

Antinuclear antibodies (ANA)

Back 25

SLE, nonspecific

Front 26

This autoantibody is associated with which disease(s)?

Anti-dsDNA, anti-Smith

Back 26

SLE-derived renal disease

Front 27

This autoantibody is associated with which disease(s)?

Antihistone

Back 27

Drug-induced lupus

(also found in 15% of the systemic lupus population)

Front 28

This autoantibody is associated with which disease(s)?

Anti-IgG (rheumatoid factor)

Back 28

Rheumatoid arthritis

RF is an IgM that attacks IgG

Front 29

This autoantibody is associated with which disease(s)?

Anticentromere

Back 29

CREST syndrome (Scleroderma)

"Crest = antiCentromere"

Front 30

This autoantibody is associated with which disease(s)?

Anti-Scl-70 (anti-DNA topoisomerase I)

Back 30

Scleroderma (diffuse)

Front 31

This autoantibody is associated with which disease(s)?

Antimitochondrial

Back 31

Primary biliary cirrhosis

Front 32

This autoantibody is associated with which disease(s)?

Antigliadin, antiendomysial

Back 32

Celiac disease

Front 33

This autoantibody is associated with which disease(s)?

Anti-basement membrane

Back 33

Goodpasture's syndrome

Front 34

This autoantibody is associated with which disease(s)?

Anti-desmoglein

Back 34

Pemphigus vulgaris

Front 35

This autoantibody is associated with which disease(s)?

Antimicrosomal, antithryoglobulin

Back 35

Hashimoto's thyroiditis

Front 36

This autoantibody is associated with which disease(s)?

Anti-Jo-1

Back 36

Polymyositis, dermatomyositis

Front 37

This autoantibody is associated with which disease(s)?

Anti-SS-A (anti-Ro)

Back 37

Sjogren's syndrome
SLE

Front 38

This autoantibody is associated with which disease(s)?

Anti-SS-B (Anti-La)

Back 38

Sjogren's syndrome
SLE

Front 39

This autoantibody is associated with which disease(s)?

Anti-U1 RNP (ribonucleoprotein)

Back 39

Mixed connective tissue disease

Front 40

This autoantibody is associated with which disease(s)?

Amti-smooth muscle

Back 40

Autoimmune hepatitis

Front 41

This autoantibody is associated with which disease(s)?

Anti-glutamate decarboxylase

Back 41

Type 1 diabetes mellitus

Front 42

This autoantibody is associated with which disease(s)?

c-ANCA

Back 42

Wegner's granulomatosis

c-ANCA = cytoplasmic anti-neutrophil cytoplasmic antibody

Front 43

This autoantibody is associated with which disease(s)?

p-ANCA

Back 43

Various vasculidities
- microscopic polyangitis
- Churg-Strauss syndrome

p-ANCA = periplasmic-ANCA

Front 44

This autoantibody is associated with which disease(s)?

mpo-ANCA

Back 44

Pauci-immune crescentic glomerulonephritis

mpo-ANCA = myeloperoxidase ANCA

Front 45

This autoantibody is associated with which disease(s)?

Anti-TSH receptor

Back 45

Grave's Dz

**Unique b/c Ab STIMULATES the receptor --> hyperthyroidism**

Front 46

This autoantibody is associated with which disease(s)?

Anti-ACh receptor

Back 46

Myasthenia Gravis

Front 47

Positive ANA

What diseases have this?

Back 47

SLE
Sjogrens
Scleroderma
Polymyositis
Dermatomyositis
RA
Juvenile arthritis
Mixed CT disease

Front 48

Oncogene

bcr-abl

Back 48

CML

Front 49

Oncogene

c-myc

Back 49

Burkitt's lymphoma

Front 50

Oncogene

bcl-2

Back 50

Follicular and undifferentiated lymphomas

- Inhibits apoptosis

Front 51

Oncogene

erb-2

Back 51

Breast, ovarian, and gastric carcinoma

Front 52

K-ras oncogene

Back 52

Colon carcinoma

Front 53

L-myc oncogene

Back 53

Lung tumor

- "L" in L-myc for Lung

Front 54

N-myc oncogene

Back 54

Neuroblastoma

- "N" in n-myc for N-euroblastoma

Front 55

ret oncogene

Back 55

MEN types II and III

Papillary carcinoma of thyroid

Front 56

c-kit oncogene

Back 56

Gastroinestinal stromal tumor (GIST)

Front 57

Rb (13q) tumor suppressor gene

Back 57

Retinoblastoma
Osteosarcoma

- Rb gene product blocks G1 --> S phase of cell cycle

Front 58

p53 (17p) tumor suppressor gene

Back 58

Most human cancers

Li-Fraumeni syndrome

- p53 gene product blocks G1 --> S phase of cell cycle

Front 59

BRCA1 (17q) tumor suppressor gene

Back 59

Breast and ovarian cancers

Front 60

BRCA2 (13Q) tumor suppressor gene

Back 60

Breast cancer

Front 61

p16 (9p) tumor suppressor gene

Back 61

Melanoma

Front 62

APC (5q) tumor suppressor gene

Back 62

Colorectal caner

- A/w FAP and Gardener's syndrome (colon + osteoma/lipoma)
- Common in Turner's pts

Front 63

WT1 (11p) tumor suppressor gene

Back 63

Wilm's tumor

- WAGR complex: Wilm's tumor, aniridia, GU malformation, MR

Front 64

NF1 (17q) tumor suppressor gene

Back 64

Neurofibromatosis 1

- optic gliomas

Front 65

NF2 (22q) tumor suppressor gene

Back 65

Neurofibromatosis 2

- bilateral acoustic schwannomas

Front 66

DPC (18q) tumor suppressor gene

Back 66

Pancreatic cancer

- "Delected in Pancreatic Cancer"

Front 67

DCC (18q)

Back 67

Colon cancer

- "Deleted in Colon Cancer"

Front 68

Tumor marker

PSA

Back 68

Prostate-specific antigen

- Used to screen for prostate carcinoma
- Elevated in BPH and prostatitis

Front 69

Tumor marker

Prostatic acid phosphatase

Back 69

Prostate carcinoma

Front 70

Tumor marker

CEA

Back 70

Carcinoembryonic antigen

- Nonspecific GI/visceral cancers
- 70% of colorectal and pancreatic cancer
- Gastric, breast, thyroid medullary carcinomas

Front 71

Tumor marker

alpha-fetal protein

Back 71

Hepatocellular carcinoma

Nonseminomatous gern cell tumors of the testis (i.e. yolk sac/endodermal sinus tumor)

Front 72

Tumor marker

beta-hCG

Back 72

Hydatidiform moles, choriocarcinomas, gestational trophoblastic tumors

- "hCG"

Front 73

Tumor marker

CA-125

Back 73

Ovarian, malignant epithelial tumors

Front 74

Tumor marker

S-100

Back 74

Melanoma, neural tumors, astrocytomas

Front 75

Tumor marker

alkaline phosphatase

Back 75

Metastases to bone, obstructive biliary disease, Paget's disease of bone

Front 76

Tumor marker

Bombesin

Back 76

Neuroblastoma, lung and gastric cancer

Front 77

Tumor marker

TRAP

Back 77

Tartrate-resistant acid phosphatase

- seen in Hairy cell leukemia (B-cell neoplasm)

Front 78

Tumor marker

CA-19-9

Back 78

Pancreatic adenocarcinoma

Front 79

Tumor marker

calcitonin

Back 79

Thyroid medullary carcinoma