UNMC Human Genetics Laboratory where excellence is dominant | Munroe-Meyer Institute | Omaha, Nebraska | 402-559-5070 | unmc.edu/geneticslab Oncology Testing Services Hematology | Oncology | Lymphoma | Solid Tumor v19.1
LSI MDM2 (12q15) DNA Probe CEP 12=D12Z3
amplified
CHROMOSOME ANALYSIS INDICATIONS FOR TESTING • Performed on bone marrow, peripheral blood, lymph node biopsy, solid tumor tissue, and other body fluid specimens Hematologic Disorders / Lymphoma • Identifies numerical and structural chromosomal aberrations with diagnostic ♦ Anaplastic large cell lymphoma and prognostic implications ♦ • Monitors response to therapy, disease progression, and treatment-related ♦♦ Burkitt lymphoma secondary malignancies ♦♦ Diffuse large B-cell lymphoma ♦♦ Follicular lymphoma FLUORESCENCE IN SITU HYBRIDIZATION (FISH) ♦♦ Leukemias (ALL, AML, CLL, and CML) As new assays are validated, our oncology FISH test menu is continually updated. Visit us online or contact our laboratory with questions regarding probe availability. ♦♦ MALT lymphoma • Performed on all oncology specimens accepted by our laboratory ♦♦ Mantle cell lymphoma • Detects diagnostic and prognostic aberrations of interest ♦♦ Marginal zone lymphoma • Monitors response to therapy and opposite sex transplant status ♦♦ Multiple myeloma and other plasma • Utilizes an indication-specific testing approach for all specimen types cell diseases ◦◦ Single probes for gene or chromosome of interest ♦♦ Myelodysplastic syndromes (MDS) ◦◦ Multi-probe panels for specific diagnoses (e.g., ALL, AML, CLL, CML, MDS, MPD, Multiple Myeloma, and Lymphoma [including specific subtypes]) ♦♦ Myeloproliferative disorders (MPD) ◦◦ Custom probes for rare cancers; including solid tissue tumors ♦♦ Non-Hodgkin lymphoma • Allows for STAT results to be communicated to referring health care ♦♦ Waldenström’s macroglobulinemia / provider within 24 hours of specimen receipt lymphoplasmacytic lymphoma
MICROARRAY ANALYSIS Solid Tissue Tumors • Allows for testing on fresh and fixed specimens, including those ♦♦ Bladder cancer specimens of suboptimal quality or with low mitotic indexes ♦♦ Bone and soft tissue tumors • Provides high resolution, global assessment of the genome • Detects loss, gain, and amplification of known and novel disease-associated ♦♦ Carcinomas regions of the genome at a higher resolution than Chromosome Analysis ♦♦ Neurological cancer, including and FISH neuroblastoma • Identifies loss of heterozygosity (LOH), which is particularly significant in ♦♦ Sarcomas regions of the genome that contain tumor suppressor genes UNMC Human Genetics Laboratory Omaha, Nebraska | 402-559-5070 unmc.edu/geneticslab v19.1 HEMATOLOGY | ONCOLOGY | LYMPHOMA FISH ► PROBES ► INDICATION-SPECIFIC TESTING and PANELS
Centromere enumeration • Acute Lymphocytic Leukemia/Lymphoma (ALL) • Eosinophilia 6q21 6q21 / 6q23 FGFR1 [8p12] 6q23 BCR / ABL1 [t(9;22)] / LSI 9q34 FIP1L1 / CHIC2 / PDGFRA [4q12] CDKN2A (P16) [9p21] JAK2 [9p24] 15q22 CRLF2 [Xp22.33/Yp11.3] PDGFRB [5q33] 20q12 / 20q13 ETV6 / RUNX1 (TEL / AML1) [t(12;21)] ALK [2p23] • Lymphoma ETV6 (TEL) [12p13] 6q21 / 6q23 ATM [11q22.3] Hyperdiploidy ALK [2p23] BCL2 [18q21] 4 centromere BCL2 [18q21] BCL6 [3q27] 10 centromere BCL6 [3q27] 17 centromere BCL6 [3q27] / 3 centromere BIRC3 (API2) / MALT1 [t(11;18)] KMT2A (MLL) [11q23] CCND1 [11q13] BCR / ABL1 [t(9;22)] / LSI 9q34 P2RY8 [Xp22.3/Yp11.3] CCND2 [12p13] BIRC3 (API2) / MALT1 [t(11;18)] PBX1 / TCF3 [t(1;19)] CCND3 [6p21.1] CBFB [16q22] PDGFRB [5q33] IGH [14q32 abnormalities] CCND1 [11q13] TRA/D (TCR) [14q11.2] IGH / BCL2 [t(14;18)] TRB (TCRB) [7q34] IGH / CCND1 [t(11;14)] CCND2 [12p13] IGH / MALT1 [t(14;18)] CCND3 [6p21.1] ◦◦ Adult B-cell ALL Panel IGH / MYC / 8 centromere [t(8;14)] BCR / ABL1 [t(9;22)] / LSI 9q34 IGK [2p11.2] CDKN2A (P16) [9p21] CRLF2 [Xp22.33/Yp11.3] CDKN2C (1p32.3) / CKS1B (1q21.3) IGL [22q11] KMT2A (MLL) [11q23] IRF4 / DUSP22 [6p25.3] CRLF2 [Xp22.33/Yp11.3] ◦◦ Pediatric B-cell ALL Panel MYC [8q24] D13S319 [13q14] / 13q34 BCR / ABL1 [t(9;22)] / LSI 9q34 TCL1A [14q32] D7S486 [7q31] / 7 centromere CRLF2 [Xp22.33/Yp11.3] TRA/D (TCR) [14q11.2] EGR1 [5q31] ETV6 / RUNX1 (TEL/AML1) [t(12;21)] TRB (TCRB) [7q34] ETV6 (TEL) [12p13] Hyperdiploidy ◦◦ Marginal Zone 12 centromere ETV6 / RUNX1 (TEL / AML1) [t(12;21)] 4 centromere 10 centromere BCL6 [3q27] / 3 centromere FGFR1 [8p12] 17 centromere D7S486 [7q31] / 7 centromere FIP1L1 / CHIC2 / PDGFRA [4q12] KMT2A (MLL) [11q23] IGH [14q32] MALT1 [18q21] / 18 centromere IGH [14q32 abnormalities] PDGFRB [5q33] IGH / BCL2 [t(14;18)] ◦◦ Non-Hodgkin Lymphoma (NHL) ◦◦ T-cell ALL Panel BCL6 [3q27]* IGH / CCND1 [t(11;14)] 6q21 / 6q23 IGH / BCL2 [t(14;18)] IGH / FGFR3 [t(4;14)] BCR / ABL1 [t(9;22)] / LSI 9q34 IGH / MYC / 8 centromere [t(8;14)] IGH / MAF [t(14;16)] CDKN2A (P16) [9p21] MYC [8q24] TRA/D (TCR) [14q11.2] TP53 [17p13.1] IGH / MAFB [t(14;20)] TRB (TCRB) [7q34] * alternate & major breakpoint IGH / MALT1 [t(14;18)] IGH / MYC / 8 centromere [t(8;14)] • Acute Myeloid Leukemia (AML) • Multiple Myeloma (MM) 8 centromere CDKN2C [1p32.3] / CKS1B [1q21.3] IGK [2p11.2] CBFB [16q22] D13S319 [13q14] / 13q34 IGL [22q11] D7S486 [7q31] / 7 centromere Hyperdiploidy IRF4 / DUSP22 [6p25.3] KMT2A (MLL) [11q23] 9 centromere JAK2 [9p24] MECOM (EVI1) [3q26.2] 11 centromere IGH [14q32 abnormalities] MLLT10 (AF10) [10p12] KMT2A (MLL) [11q23] IGH / CCND1 [t(11;14)] MALT1 [18q21] / 18 centromere MLLT10 (AF10) / PICALM [t(10;11)] IGH / FGFR3 [t(4;14)] PML / RARA [t(15;17)] MECOM (EVI1) [3q26.2] IGH / MAF [t(14;16)] RUNX1T1 / RUNX1 (ETO / AML1) [t(8;21)] IGH / MAFB [t(14;20)] MLLT10 (AF10) [10p12] TP53 [17p13.1] MLLT10 (AF10) / PICALM [t(10;11)] • Chronic Lymphocytic Leukemia (CLL) MYC [8q24] 6q23 • Myelodysplastic Syndrome (MDS) 12 centromere 8 centromere P2RY8 [Xp22.3/Yp11.3] ATM [11q22.3] 20q12 / 20q13 PBX1 / TCF3 [t(1;19)] D13S319 [13q14] / 13q34 D7S486 [7q31] / 7 centromere PDGFRB [5q33] IGH [14q32] EGR1 [5q31] PML / RARA [t(15;17)] IGH / CCND1 [t(11;14)] KMT2A (MLL) [11q23] TP53 [17p13.1] RUNX1T1 / RUNX1 (ETO / AML1) • Myeloproliferative Disorder (MPD) [t(8;21)] • Chronic Myeloid Leukemia (CML) 8 centromere TCL1A [14q32] BCR / ABL1 [t(9;22)] / LSI 9q34 20q12 / 20q13 BCR / ABL1 [t(9;22)] / LSI 9q34 TP53 [17p13.1] TP53 [17p13.1]* / 8 centromere* * when concurrent Chromosome Analysis is not performed D7S486 [7q31] / 7 centromere TRA/D (TCR) [14q11.2] D13S319 [13q14] / 13q34 TRB (TCRB) [7q34]
Please call for updates, as our probe inventory and availability is constantly expanding. UNMC Human Genetics Laboratory Omaha, Nebraska | 402-559-5070 unmc.edu/geneticslab v19.1 SOLID TUMOR FISH ► PROBES ► INDICATION-SPECIFIC TESTING and PANELS
Centromere enumeration • Alveolar Rhabdomyosarcoma (ARMS) • Lipoma 1p36 deletion FOXO1 [13q14] HMGA2 [12q14.3] PAX3 [2q36] 1p36 / 1q25 • Liposarcoma (WDLS/ALT; DDLS) • Alveolar Soft Part Sarcoma (ASPS) CDK4 [12q13.14] 19q13 / 19p13 TFE3 [Xp11] MDM2 [12q15] ALK [2p23] • Aneurysmal Bone Cyst (ABC) • Low Grade Fibromyxoid Sarcoma CDK4 [12q13.14] USP6 [17p13] (LGFMS) CDKN2A (P16) [9p21] EWSR1 [22q12] • Angiomatoid Fibrous Histiocytoma (AFH) FUS [16p11.2] COL1A1 [17q21] EWSR1 [22q12] FUS / CREB3L2 [t(7;16)] EWSR1 / ATF1 [t(12;22)] COL1A1 / PDGFB [t(17;22)] EWSR1 / CREB1 [t(2;22)] • Mammary Analogue Secretory DDIT3 (CHOP) [12q13] FUS [16p11.2] Carcinoma (MASC) ETV6 (TEL) [12p13] EGFR [7p12] • Bladder Cancer (UroVysion®) ETV6 (TEL) [12p13] 3 centromere • Medulloblastoma (MBD) 7 centromere MYC [8q24] / 8 centromere EWSR1 [22q12] 17 centromere MYCN [2p24.1] CDKN2A (P16) [9p21] EWSR1 / ATF1 [t(12;22)] • Midline Carcinoma EWSR1 / CREB1 [t(2;22)] • Clear Cell Sarcoma of Soft Tissue (CCS) / NUTM1 [15q14] Malignant Melanoma of Soft Parts NUTM1 / BRD4 [t(15;19)] EWSR1 / WT1 [t(11;22)] EWSR1 [22q12] FOXO1 [13q14] EWSR1 / ATF1 [t(12;22)] • Myxoid Liposarcoma (MLS) EWSR1 / CREB1 [t(2;22)] DDIT3 (CHOP) [12q13] FUS [16p11.2] EWSR1 [22q12] • Dermatofibrosarcoma Protuberans (DFSP) FUS [16p11.2] FUS / CREB3L2 [t(7;16)] COL1A1 / PDGFB [t(17;22)] HMGA2 [12q14.3] • Neuroblastoma (NB) • Desmoplastic Small Round Cell Tumor (DSRCT) 1p36 deletion MDM2 [12q15] EWSR1 / WT1 [t(11;22)] MYCN [2p24.1] MYC [8q24] / 8 centromere • Ewing Sarcoma (ES) / • Neurological Cancer MYCN [2p24.1] Primitive Neuroectodermal Tumor (PNET) 1p36 / 1q25 NR4A3 [9q22.33] EWSR1 [22q12] 19q13 / 19p13 FUS [16p11.2] EGFR [7p12] NUTM1 [15q14] PTEN [10q23] • Extraskeletal Myxoid Chondrosarcoma (EMC) NUTM1 / BRD4 [t(15;19)] EWSR1 [22q12] • Nodular Faciitis PAX3 [2q36] NR4A3 [9q22.33] USP6 [17p13]
PDGFB [22q13] • Infantile Fibrosarcoma (IFS) • Non-Small Cell Lung Cancer PL AG1 [8q12.1] ETV6 (TEL) [12p13] (NSCLC) ALK [2p23] PTEN [10q23] • Inflammatory Myofibroblastic Tumor (IMT) RET [10q11] ALK [2p23] ROS1 [6q22] RB1 [13q14] RET [10q11] • Lipoblastoma • Renal Cell Carcinoma (RCC) PLAG1 [8q12.1] TFE3 [Xp11] ROS1 [6q22] SMARCB1 (INI1) [22q11.23] • Rhabdoid Tumor (AT/RT; MRT) SMARCB1 (INI1) [22q11.23] SS18 (SYT) [18q11.2 / t(X;18)] TFE3 [Xp11] • Synovial Sarcoma (SS) SS18 (SYT) [18q11.2 / t(X;18)] USP6 [17p13]
Please call for updates, as our probe inventory and availability is constantly expanding.