MB (ASCP) 2021 - Translocations, Diseases, Pharma, Polymerases, & more 2023.

MB (ASCP) 2021 - Translocations, Diseases, Pharma, Polymerases, & more 2023.Chronic Myeloid Leukemia (CML) - ANSWERt(9;22) BCR-ABL translocation Ewing sarcoma - ANSWERt(11;22) EWS-FLI1 Acute Lymphocytic Leukemia (ALL) - ANSWERt(9;22) BCR-ABL p190 protein Follicular Lymphoma - ANSWERt(14;18) BCL2 translocation Mantle Cell Lymphoma - ANSWERt(11;14) bcl-1 translocation CCND1-IgH Burkitt Lymphoma - ANSWERt(8;14) MYC gene translocation Rhabdomyosarcoma (alveolar); Cancer/solid tumor - ANSWERt(2;13) or t(1;13) PAX3-FKHR and PAX7-FKHR "ARMS" translocation AML (Acute Myeloid Leukemia) - ANSWERt(8;21) inv(16) t(15;17) RUNX1, RUNX1T1 APL (Acute Promyelocytic Leukemia) also AML-3 - ANSWERt(15;17) note: A *P* L = *P* ML-RARA (remember the P) Marginal Zone Lymphoma - ANSWERt(11;18) Prostatic adenocarcinoma - ANSWERt(7;21) or t(17;21) Sezary Syndrome (Cutaneous T-Cell Lymphomia) - ANSWERTCR gene rearrangements Synovial sarcoma - ANSWERt(X;18) SYT-SSX Breast Cancer - ANSWERHER2/ERBB2 - BRCA1 mutation: 185delAG and 5832insC - BRCA2 mutation: 6174delT Lung Cancer (NSCLC) - ANSWEREGFR mutation = L858R also Thr790Met Colorectal Carcinoma (CRC) - ANSWERBRAF V600E mutation also PIK3CA mutation (E542 and E545 in exon 9) Melanoma (skin cancer) - ANSWERBRAF V600E mutation (c.1799TA) Target amplification methods - ANSWERPCR + qPCR RT-PCR TMA (remember: both RT-PCR and TMA use reverse transcriptase) Probe Amplification methods - ANSWERSDA LCR QB Replicase Signal Amplification methods - ANSWERHybrid Capture bDNA (branched DNA amplification) Cleavage-based (Invader assay) What is a metagenome? - ANSWERsum total of all DNA sequenced from an environmental sample Which Enteroccus Faecium has the most resistance with MIC 128 ug/ml? - ANSWERvanA staphylococcus aureus (MRSA) What antimicrobial agent + genes conferring resistance? - ANSWEROxacillin mecA Streptococcus pneumoniae - ANSWERIytA gene steptococcus pneumoniae What antimicrobial agent + genes conferring resistance? - ANSWERPenicillin pbp1a and pbp1b Enterococcus What antimicrobial agent + genes conferring resistance? - ANSWERVancomycin vanA, vanB, vanC, vanD, vanE, vanG Salmonella What antimicrobial agent + genes conferring resistance? - ANSWERQuinolones gyrA, gyrB, parC, parE Mycobacterium tuberculosis - ANSWERRIPE (rifampin, isoniazid, pyrazinamide, ethambutol) katG, inhA, rpoB Coumadin (warfarin) - ANSWERVKORC1 (1639GA);CYP2C9 - increased sensitivity; lower dose requirements - anticoagulant Camptosar (irontecan) - ANSWERUGT1A1 Tegretol (carbamezapine) - ANSWERinhibits hypersensitivity rxns in people with: HLA-B*15:02 haplotype Factor V Leiden - ANSWERR506Q point mutation -resistant to APC (prothrombic state) -thrombophilia -test methods: allele specific PCR, invader assay abacavir/lamivudine - ANSWERHLA-B*15:07 found in HIV Plavix (clopidogrel) - ANSWERCYCP2C19 Codeine - ANSWERCYP2D6 Prothrombin mutation - ANSWERFactor II G20210A mutation MTHFR Mutations - ANSWER665CT 1286AC KRAS Oncogene or Tumor Suppressor? - ANSWEROncogene BRAF