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77 Cards in this Set
- Front
- Back
- 3rd side (hint)
t(9;22)
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- Philadelphia chromosome
- bcr-abl tyrosine kinase - chronic myeloid leukemia (90%) - poor prognostic factor in acute lymphoblastic leukemia - imatinib |
First Aid 2010-355
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t(8;14)
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- Burkitt's lymphoma
- c-myc activation - endemic form --> mass in jaw - sporadic form --> mass in abdomen |
First Aid 2010-355
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t(14;18)
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- Follicular lymphomas
- IgH(14)/bcl-2(18) fusion gene → constitutive expression of bcl-2 - bcl-2 prevents apoptosis |
First Aid 2010-355
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t(15;17)
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- M3 type of AML (acute promyelocytic leukemia)
- high incidence of DIC - responsive to all-trans retinoic acid |
First Aid 2010-355
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t(11;22)
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Ewing's sarcoma
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First Aid 2010-355
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t(11;14)
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Mantle cell lymphoma
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First Aid 2010-355
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t(12;21)
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- ALL
- associated with a favorable prognosis |
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Rb
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- 13q
- Retinoblastoma - osteosarcoma |
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BRCA1
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- 17q
- Breast and ovarian cancer |
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BRCA2
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- 13q
- Breast Cancer |
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p53
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- 17p
- seen in most human cancers - Li-Fraumeni syndrome |
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p16
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- 9p
- Melanoma |
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APC
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- 5q
- Colorectal cancer (associated with FAP) |
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WT1
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- 11p
- Wilms' tumor |
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NF1
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- 17q
- Neurofibromatosis type 1 |
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NF2
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- 22q
- Neurofibromatosis type 2 |
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DPC
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- 18q
- Pancreatic cancer |
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DCC
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- 18q
- Colon cancer |
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PSA
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- Prostate-specific antigen
- screen for prostate carcinoma ↑ in BPH and prostatitis |
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Prostatic acid phosphatase
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- prostate carcinoma
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CA-125
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- Ovarian, malignant epithelial tumors
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TRAP
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- Tartrate-resistant acid phosphatase
- positive in Hairy cell leukemia (a B-cell neoplasm) |
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abl
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CML
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c-myc
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Burkitt's lymphoma
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bcl-2
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Follicular and undifferentiated lymphomas (inhibits apoptosis)
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erb-B2
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Breast, ovarian, and gastric carcinomas
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ras
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Colon carcinoma
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L-myc
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Lung tumor
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N-myc
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Neuroblastoma
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ret
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Multiple endocrine neoplasia (MEN) types II and III
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c-kit
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Gastrointestinal stromal tumor (GIST)
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Friedreich's ataxia mutation?
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GAA trinucleotide repeats in the frataxin gene of chromosome 9
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acoustic neuromas
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all are associated with a loss of a tumor-suppressor gene located on chromosome 22 (whether or not they occur in NF-2)
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von Hippel-Lindau disease
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VHL deletion in chromosome 3
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Huntington's disease
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CAG trinucleotide repeat expansion (anticipation) on chromosome 4
Autosomal dominant |
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familial adenomatous polyposis
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deletion on chromosome 5
Autosomal dominant |
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adult polycystic kidney disease
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APKD1 on chromosome 16
Autosomal dominant |
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Repeat in CAG
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Huntington disease
Kennedy syndrome |
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Repeat of CTG
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Myotonic dystrophy
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Repeat of CGG
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Fragile X
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Repeate of CTG
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Spinocerebellar ataxia
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Prostatic acid phosphatase
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Prostate carcinoma
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CA-125
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Glycoprotein Cancer Antigen 125
Ovarian, malignant epithelial tumors |
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Alkaline phosphatase
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Metastases to bone, obstructive biliary disease, Paget's disease of bone
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TRAP
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Tartrate-resistant acid phosphatase
Hairy cell leukemia (B-cell neoplasm) |
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PTH-related peptide
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paraneoplastic syndrome:
↑ secreation in squamous cell carcinoma of the lung |
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17-hydroxyprogesterone
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androgen precursor
↑ in adrenal hyperplasia secondary to 21-hydroxylase (P450C21) deficiency |
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S-100
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- Melanoma
- neural tumors - astrocytomas |
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CA-19-9
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Pancreatic adenocarcinoma
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β-hCG
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- Hydatidiform moles
- Choriocarcinomas - Gestational trophoblastic tumors |
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Alkaline phosphatase
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- metastases to bone
- obstructive biliary disease - Paget's disease of bone |
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Bombesin
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- Neuroblastoma
- lung and gastric cancer |
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PSA
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Prostate-specific antigen
screen for prostate carcinoma ↑ in BPH and prostatitis |
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CEA
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Carcinoembryonic antigen
nonspecific ~70% of colorectal/pancreatic cancers express CEA produced by gastric/breast carcinomas |
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α-fetoprotein
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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 |
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Antinuclear antibodies (ANA) antibodies
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SLE
sensitive but not specific for SLE |
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Anti-dsDNA antibodies
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Specific for SLE
poor prognosis |
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Anti-Smith antibodies
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Specific for SLE
not prognostic |
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Antihistone antibodies
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Drug-induced lupus
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Anti-IgG
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rheumatoid factor
rheumatoid arthritis |
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Anticentromere antibodies
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Scleroderma (CREST)
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Anti-Scl-70 antibodies
(anti-DNA topoisomerase I) |
Scleroderma (diffuse)
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Antimitochondrial antibodies
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primary biliary cirrhosis
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Antigliadin antibodies
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Celiac disease
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Antiendomysial antibodies
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Celiac disease
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Anti-basement membrane antibodies
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Goodpasture's syndrome
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Anti-desmoglein antibodies
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Pemphigus vulgaris
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Antimicrosomal antibodies
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Hashimoto's thyroiditis
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Antithyroglobulin antibodies
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Hashimoto's thyroiditis
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Anti-Jo-1 antibodies
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Polymyositis, dermatomyositis
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Anti-SS-A (anti-Ro) antibodies
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Sjögren's syndrome
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Anti-SS-B (anti-La) antibodies
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Sjögren's syndrome
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Anti-U1 RNP (ribonucleoprotein) antibodies
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Mixed connective tissue disease
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Anti-smooth muscle antibodies
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Autoimmune hepatitis
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Anti-glutamate decarboxylase antibodies
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Type 1 diabetes mellitus
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c-ANCA
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Wegener's granulomatosis
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p-ANCA
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other vasculitides (other than Wegener's granulomatosis)
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