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77 Cards in this Set

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t(9;22)
- Philadelphia chromosome
- bcr-abl tyrosine kinase
- chronic myeloid leukemia (90%)
- poor prognostic factor in acute lymphoblastic leukemia
- imatinib
First Aid 2010-355
t(8;14)
- Burkitt's lymphoma
- c-myc activation
- endemic form --> mass in jaw
- sporadic form --> mass in abdomen
First Aid 2010-355
t(14;18)
- Follicular lymphomas
- IgH(14)/bcl-2(18) fusion gene → constitutive expression of bcl-2
- bcl-2 prevents apoptosis
First Aid 2010-355
t(15;17)
- M3 type of AML (acute promyelocytic leukemia)
- high incidence of DIC
- responsive to all-trans retinoic acid
First Aid 2010-355
t(11;22)
Ewing's sarcoma
First Aid 2010-355
t(11;14)
Mantle cell lymphoma
First Aid 2010-355
t(12;21)
- ALL
- associated with a favorable prognosis
Rb
- 13q
- Retinoblastoma
- osteosarcoma
BRCA1
- 17q
- Breast and ovarian cancer
BRCA2
- 13q
- Breast Cancer
p53
- 17p
- seen in most human cancers
- Li-Fraumeni syndrome
p16
- 9p
- Melanoma
APC
- 5q
- Colorectal cancer (associated with FAP)
WT1
- 11p
- Wilms' tumor
NF1
- 17q
- Neurofibromatosis type 1
NF2
- 22q
- Neurofibromatosis type 2
DPC
- 18q
- Pancreatic cancer
DCC
- 18q
- Colon cancer
PSA
- Prostate-specific antigen
- screen for prostate carcinoma
↑ in BPH and prostatitis
Prostatic acid phosphatase
- prostate carcinoma
CA-125
- Ovarian, malignant epithelial tumors
TRAP
- Tartrate-resistant acid phosphatase
- positive in Hairy cell leukemia (a B-cell neoplasm)
abl
CML
c-myc
Burkitt's lymphoma
bcl-2
Follicular and undifferentiated lymphomas (inhibits apoptosis)
erb-B2
Breast, ovarian, and gastric carcinomas
ras
Colon carcinoma
L-myc
Lung tumor
N-myc
Neuroblastoma
ret
Multiple endocrine neoplasia (MEN) types II and III
c-kit
Gastrointestinal stromal tumor (GIST)
Friedreich's ataxia mutation?
GAA trinucleotide repeats in the frataxin gene of chromosome 9
acoustic neuromas
all are associated with a loss of a tumor-suppressor gene located on chromosome 22 (whether or not they occur in NF-2)
von Hippel-Lindau disease
VHL deletion in chromosome 3
Huntington's disease
CAG trinucleotide repeat expansion (anticipation) on chromosome 4

Autosomal dominant
familial adenomatous polyposis
deletion on chromosome 5

Autosomal dominant
adult polycystic kidney disease
APKD1 on chromosome 16

Autosomal dominant
Repeat in CAG
Huntington disease
Kennedy syndrome
Repeat of CTG
Myotonic dystrophy
Repeat of CGG
Fragile X
Repeate of CTG
Spinocerebellar ataxia
Prostatic acid phosphatase
Prostate carcinoma
CA-125
Glycoprotein Cancer Antigen 125

Ovarian, malignant epithelial tumors
Alkaline phosphatase
Metastases to bone, obstructive biliary disease, Paget's disease of bone
TRAP
Tartrate-resistant acid phosphatase
Hairy cell leukemia (B-cell neoplasm)
PTH-related peptide
paraneoplastic syndrome:

↑ secreation in squamous cell carcinoma of the lung
17-hydroxyprogesterone
androgen precursor
↑ in adrenal hyperplasia secondary to 21-hydroxylase (P450C21) deficiency
S-100
- Melanoma
- neural tumors
- astrocytomas
CA-19-9
Pancreatic adenocarcinoma
β-hCG
- Hydatidiform moles
- Choriocarcinomas
- Gestational trophoblastic tumors
Alkaline phosphatase
- metastases to bone
- obstructive biliary disease
- Paget's disease of bone
Bombesin
- Neuroblastoma
- lung and gastric cancer
PSA
Prostate-specific antigen

screen for prostate carcinoma
↑ in BPH and prostatitis
CEA
Carcinoembryonic antigen

nonspecific
~70% of colorectal/pancreatic cancers express CEA
produced by gastric/breast carcinomas
α-fetoprotein
Normally made by fetus
Hepatocellular carcinomas
Nonseminomatous germ cell tumors of the testis (yolk sac tumor)
↑ in neural tube defects, omphalocele
↓ in Down's syndrome
Antinuclear antibodies (ANA) antibodies
SLE
sensitive but not specific for SLE
Anti-dsDNA antibodies
Specific for SLE
poor prognosis
Anti-Smith antibodies
Specific for SLE
not prognostic
Antihistone antibodies
Drug-induced lupus
Anti-IgG
rheumatoid factor
rheumatoid arthritis
Anticentromere antibodies
Scleroderma (CREST)
Anti-Scl-70 antibodies
(anti-DNA topoisomerase I)
Scleroderma (diffuse)
Antimitochondrial antibodies
primary biliary cirrhosis
Antigliadin antibodies
Celiac disease
Antiendomysial antibodies
Celiac disease
Anti-basement membrane antibodies
Goodpasture's syndrome
Anti-desmoglein antibodies
Pemphigus vulgaris
Antimicrosomal antibodies
Hashimoto's thyroiditis
Antithyroglobulin antibodies
Hashimoto's thyroiditis
Anti-Jo-1 antibodies
Polymyositis, dermatomyositis
Anti-SS-A (anti-Ro) antibodies
Sjögren's syndrome
Anti-SS-B (anti-La) antibodies
Sjögren's syndrome
Anti-U1 RNP (ribonucleoprotein) antibodies
Mixed connective tissue disease
Anti-smooth muscle antibodies
Autoimmune hepatitis
Anti-glutamate decarboxylase antibodies
Type 1 diabetes mellitus
c-ANCA
Wegener's granulomatosis
p-ANCA
other vasculitides (other than Wegener's granulomatosis)