MB (ASCP) 2024 - Translocations, Diseases, Pharma, Polymerases, & more

MB (ASCP) 2024 - Translocations, Diseases, Pharma, Polymerases, & more Chronic Myeloid Leukemia (CML) - Answer ️️ -t(9;22) BCR-ABL translocation Ewing sarcoma - Answer ️️ -t(11;22) EWS-FLI1 Acute Lymphocytic Leukemia (ALL) - Answer ️️ -t(9;22) BCR-ABL p190 protein Follicular Lymphoma - Answer ️️ -t(14;18) BCL2 translocation Mantle Cell Lymphoma - Answer ️️ -t(11;14) bcl-1 translocation CCND1-IgH Burkitt Lymphoma - Answer ️️ -t(8;14) MYC gene translocation Rhabdomyosarcoma (alveolar); Cancer/solid tumor - Answer ️️ -t(2;13) or t(1;13) PAX3-FKHR and PAX7-FKHR "ARMS" translocation AML (Acute Myeloid Leukemia) - Answer ️️ -t(8;21) inv(16) t(15;17) RUNX1, RUNX1T1 APL (Acute Promyelocytic Leukemia) also AML-3 - Answer ️️ -t(15;17) note: A *P* L = *P* ML-RARA (remember the P) Marginal Zone Lymphoma - Answer ️️ -t(11;18) Prostatic adenocarcinoma - Answer ️️ -t(7;21) or t(17;21) Sezary Syndrome (Cutaneous T-Cell Lymphomia) - Answer ️️ -TCR gene rearrangements Synovial sarcoma - Answer ️️ -t(X;18) SYT-SSX Breast Cancer - Answer ️️ -HER2/ERBB2 - BRCA1 mutation: 185delAG and 5832insC - BRCA2 mutation: 6174delT Lung Cancer (NSCLC) - Answer ️️ -EGFR mutation = L858R also Thr790Met Colorectal Carcinoma (CRC) - Answer ️️ -BRAF V600E mutation also PIK3CA mutation (E542 and E545 in exon 9) Melanoma (skin cancer) - Answer ️️ -BRAF V600E mutation (c.1799TA) Target amplification methods - Answer ️️ -PCR + qP