Chronic Myeloid Leukemia (CML)
t(9;22)
BCR-ABL translocation
Ewing sarcoma
t(11;22)
EWS-FLI1
Acute Lymphocytic Leukemia
... [Show More] (ALL)
t(9;22)
BCR-ABL
p190 protein
Follicular Lymphoma
t(14;18)
BCL2 translocation
Mantle Cell Lymphoma
t(11;14) bcl-1 translocation
CCND1-IgH
Burkitt Lymphoma
t(8;14)
MYC gene translocation
Rhabdomyosarcoma (alveolar); Cancer/solid tumor
t(2;13) or t(1;13)
PAX3-FKHR and PAX7-FKHR
"ARMS" translocation
AML (Acute Myeloid Leukemia)
t(8;21)
inv(16)
t(15;17)
RUNX1, RUNX1T1
APL (Acute Promyelocytic Leukemia)
also AML-3
t(15;17)
note: A P L = P ML-RARA (remember the P)
Marginal Zone Lymphoma
t(11;18)
Prostatic adenocarcinoma
t(7;21) or t(17;21)
Sezary Syndrome (Cutaneous T-Cell Lymphomia)
TCR gene rearrangements
Synovial sarcoma
t(X;18)
SYT-SSX
Breast Cancer
HER2/ERBB2
- BRCA1 mutation: 185delAG and 5832insC
- BRCA2 mutation: 6174delT
Lung Cancer (NSCLC)
EGFR mutation = L858R
also Thr790Met
Colorectal Carcinoma (CRC)
BRAF V600E mutation
also PIK3CA mutation (E542 and E545 in exon 9)
Melanoma (skin cancer)
BRAF V600E mutation (c.1799T>A)
Target amplification methods
PCR + qPCR
RT-PCR
TMA
(remember: both RT-PCR and TMA use reverse transcriptase)
Probe Amplification methods
SDA
LCR
QB Replicase
Signal Amplification methods
Hybrid Capture
bDNA (branched DNA amplification)
Cleavage-based (Invader assay)
What is a metagenome?
sum total of all DNA sequenced from an environmental sample
Which Enteroccus Faecium has the most resistance with MIC > 128 ug/ml?
vanA
staphylococcus aureus (MRSA)
What antimicrobial agent + genes conferring resistance?
Oxacillin
mecA
Streptococcus pneumoniae
IytA gene
steptococcus pneumoniae
What antimicrobial agent + genes conferring resistance?
Penicillin
pbp1a and pbp1b
Enterococcus
What antimicrobial agent + genes conferring resistance?
Vancomycin
vanA, vanB, vanC, vanD, vanE, vanG
Salmonella
What antimicrobial agent + genes conferring resistance?
Quinolones
gyrA, gyrB, parC, parE
Mycobacterium tuberculosis
RIPE (rifampin, isoniazid, pyrazinamide, ethambutol)
katG, inhA, rpoB
Coumadin (warfarin)
VKORC1 (1639G>A);CYP2C9
- increased sensitivity; lower dose requirements
- anticoagulant
Camptosar (irontecan)
UGT1A1
Tegretol (carbamezapine)
inhibits hypersensitivity rxns in people with:
HLA-B*15:02 haplotype
Factor V Leiden
R506Q point mutation
-resistant to APC (prothrombic state)
-thrombophilia
-test methods: allele specific PCR, invader assay
abacavir/lamivudine
HLA-B*15:07
found in HIV
Plavix (clopidogrel)
CYCP2C19
Codeine
CYP2D6
Prothrombin mutation
Factor II
G20210A mutation
MTHFR Mutations
665C>T [Show Less]