Oncology Cytogenetics Diagnostic Service - User Guide 2014
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1 Oncology Cytogenetics Diagnostic Service - User Guide 2014 Contact details Address: Cytogenetics Department 5 th Floor Tower Wing Guy s Hospital Great Maze Pond London SE1 9RT General enquiries Fax Hours of Operation Monday to Friday 9.00am to 5.30pm Weekends/Bank Holidays There is no service at weekends or bank holidays. Samples requiring urgent processing or analysis at these times should be discussed in advance. CONTROLLED DOCUMENT Page 1 of 12
2 B-cell acute lymphoblastic leukaemia G-banded karyotype FISH tests: Probe BCR-ABL TEL-AML1 (ETV6-RUNX1) MLL MLL/AFF1 TCF3(E2A) PAX5 ETV6 CDKN2A(9p21)/CEP9 Abnormality t(9;22) t(12;21) 11q23 t(4;11) t(1;19)/ t(17;19) dic(9;12) dic(9;12) del(9p) CONTROLLED DOCUMENT Page 2 of 12
3 T-cell acute lymphoblastic leukaemia (T- ALL) T-cell prolymphocytic leukaemia (T-PLL) G-banded karyotype FISH tests: Probe Abnormality Disease BCR-ABL NUP214/ABL T-ALL MLL t(11q23;) ATM del(11q22.3) T-PLL TCL1 inv(14) T-PLL TCRαδ t/inv(14q11;?) T-ALL/ T-PLL TCRβ t(7q34;?) T-ALL TCRγ t(7p14;?) T-ALL TLX3(HOX11L2) t(5;14) T-ALL TLX1(HOX11) t(10q24;?) T-ALL SIL-TAL1 del(1p32)/ t(1;14) T-ALL T-ALL FISH testing strategy: CONTROLLED DOCUMENT Page 3 of 12
4 NORMAL: No further tests TCL1 TLX1 TLX3 SIL-TAL1 BCR-ABL ABNORMAL (TCL1, TLX1 or TLX3) TCRαδ TCRβ TCRγ Acute Myeloid Leukaemia (AML)/ Myelodysplastic syndrome (MDS) G-banded karyotype FISH tests: Probe AML1-ETO PML-RARα RARα CBFβ MLL D5S23,D5S721/ EGR1 D7S486/CEP7 D20S108 Abnormality t(8;21) t(15;17) t(17;?) inv(16)/t(16;1 6) 11q23 del(5q31)/-5 del(7q31)/-7 del(20q) CONTROLLED DOCUMENT Page 4 of 12
5 Chromosome 8 Alpha satellite ETV6(TEL) EVI PDGFRβ Trisomy 8 t(12p13;?) inv(3)/t(3;3) 5q33 CONTROLLED DOCUMENT Page 5 of 12
6 Myeloproliferative neoplasms (MPN/CML) G-banded karyotype FISH tests: Probe Abnormality Disease BCR-ABL t(9;22)/var/cryptic/ CML del der(9) 4q21 tricolour Cryptic 4q12 deletion Hypereosinophilic syndrome (HES)/Chronic eosinophilic leukaemia (CEL) PDGFRβ 5q33 MDS/MPD FGFR1 t(8p11;?) 8p11 myeloproliferative syndrome CONTROLLED DOCUMENT Page 6 of 12
7 Chronic Lymphocytic Leukaemia (CLL) Interphase FISH analysis only: Probe TP53/ATM DLEU(13q14)/ LAMP/CEP12 Abnormality del(17p13)/ del(11q22.3) del(13q)/ trisomy 12 CONTROLLED DOCUMENT Page 7 of 12
8 Non-Hodgkin s Lymphoma (NHL) G-banded karyotype when bone marrow is infiltrated FISH testing can be carried out on FFPE tissue sections FISH tests: Probe Abnormality Disease IGH-MYC t(8;14) High grade B- cell NHL IGK t(2p11;?) High grade B- cell NHL IGL t(22q11;?) High grade B- cell NHL IGH t(14q32;) Non-specific IGH-CCND1 t(11;14) Mantle cell IGH-BCL2 t(14;18) Follicular/ High grade B-cell NHL ALK t(2;?) Anaplastic LCL BCL6 t(3q27;?) High grade B- cell NHL MALT1 t(18q21;?) MALT/MZL IGH-MALT1 t(14;18) MALT/MZL BIRC3 t(11;18) MALT/MZL (API2)-MALT1 BCL10 t(1p22;?) MALT/MZL PAX5 t(9p13;?) B-cell NHL MYC t(8q24;?)/ amplification High grade B- cell NHL BCL3 t(19q13) B-cell NHL CONTROLLED DOCUMENT Page 8 of 12
9 Interphase FISH analysis: Multiple Myeloma (MM) Probe CKS1B/CDKN2C TP53/ATM DLEU/ LAMP/CEP12 IGH IGH-FGFR3 IGH-CCND1 IGH-MAF IGH-MAFB IGH-CCND3 D5S23,D5S721/ CEP9/CEP15 Abnormality 1q21 gain 1p32 deletion del(17p) del(13q)/-13 t(14;?) t(4;14) t(11;14) t(14;16) t(14;20) t(6;14) Hyperdiploidy FISH testing strategy: CONTROLLED DOCUMENT Page 9 of 12
10 Breast cancer FISH analysis of FFPE tissue sections for HER2 status CONTROLLED DOCUMENT Page 10 of 12
11 Urothelial cancer FISH analysis of ThinPrep slides using the UroVysion FISH assay CONTROLLED DOCUMENT Page 11 of 12
12 Other solid tumours FISH tests (testing can be carried out on FFPE tissue sections): FISH probe Abnormality Tumour type HER2 Amplification Breast SYT t(18q11;) Synovial sarcoma FUS CHOP (DDIT3) t(16p11;) t(12q13;) FKHR (FOXO1A) t(13q14;) Myxoid liposarcoma (FUS/CHOP) Angiomatoid fibrous histiocytoma (FUS/ATF1) Fibromyxoid sarcoma, low grade (FUS/CREB3L2) Alveolar rhabdomyosarcoma EWS t(22q12;) Ewings sarcoma/primitive neuroectodermal tumour Desmoplastic small round cell tumour (with 11p13) Myxoid liposarcoma (with 12q13) Myxoid chondrosarcoma (with 9q22) Clear cell sarcoma (with 12q13) ALK t(2p23;) Inflammatory myofibroblastic tumour Non-small cell lung cancer ROS1 t(6q22;) Non-small cell lung cancer CONTROLLED DOCUMENT Page 12 of 12
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