Bone marrow karyotyping in different hematologic malignancies (to find a diagnostic, prognostic, predictive marker or evaluate cytogenetic response after therapy)
Peripheral blood karyotyping to confirm some chromosomal aberrations in BM are constitutional or acquired
Individual abnormalities and prognostic panel in AML/ALL ,MDS and MPN by FISH analysis
Prognostic panel in multiple myeloma on CD138+ sorted cells by FISH analysis: Consider FISH for 1p36/1q21,6q21,8p21,9q34, t(4;14)/FGFR3/IGH, 13q14/D13S319, 14q32/ IGH, t(11;14)/CCND1/IGH, t(14;16)/IGH/MAF, 15q22/PML, t(14;20), t(6;14) and 17p13.1/TP53
PDGFRA/ Deletion of 4q12/PDGFRB rearrangement and FGFR1 in HES and CEL by FISH analysis
Cytogenetic response evaluation after Imatinib in CML patients by FISH analysis
Confirm the diagnosis of low grade lymphoma by FISH analysis
Follicular Lymphoma: Consider FISH for BCL2 /FISH for MYC and BCL6 if aggressive t(14;18)(q32;q21) as the primary chromosome anomaly. Rare variant translocation t(2;18)(p11;q21) and t(18;22)(q21;q11)/ BCL2 rearrangement as diagnostic marker and deletions of 17p13/TP53(10%), deletions of 6q(25-30%) or 9p(10-13%) as prognostic marker.
Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma: Consider FISH for the recurrent abnormalities (Trisomy 12, Del(13)(q14)/del(13)(q34)/ Del(17)(p13)/TP53, del(6)(q21),Del(11)(q22)/ATM,8q24/cMYC amplification, IGH translocation.
MALT lymphomas: Consider FISH for t(11;18)(q22;q21), t(1;14)(p22;q32), t(3;14)(p14.1;q32), t(3;14)(p14.1;q32)/ FISH for MYC, BCL6, Trisomy 3 and trisomy 18 if aggressive.
Splenic Marginal Zone B-cell Lymphoma: Consider FISH for 7q deletion (20-40%),total or partial trisomy 3 (30-50%),Total or partial trisomy 12(20-30%) ,t(11;14)(q13;q32) (10-15%),Del(13)(q14)/(50%),Del TP53/ (10-30%) more aggressive clinical course.
Mantle Cell Lymphoma: Consider FISH for CCND1/IGH(90-95% of cases), Consider FISH for variant translocations. t(2;11)(p11;q13) (CCND1-IGK@), t(11;22)(q13;q11) (CCND1-IGL@), t(12;14)(p13;q32) (CCND2-IGH@),t(2;12)(p11;p13) (CCND2-IGK@), t(12;22)(p13;q21) (CCND2-IGL@),t(6;14)(p21;q32) (CCND3-IGH@)
Confirm the diagnosis of Burkitt lymphoma by FISH analysis: Consider FISH for t(8;14)MYC/IGH,t(2;8)MYC/IGK,t(8;22)MYC/IGL and BL2,BCL3 rearrangement for double and triple hit lymphoma
Confirm the diagnosis of NHL panel of probes by FISH analysis: Consider FISH for ALK, BCL6, MYC, IGH, CCND1 and BCL2 genes. Triple hit” lymphoma (THL) shows rearrangements of BCL2, MYC and BCL6 and is associated with a poor prognosis. This combination of abnormalities is observed in B-cell lymphomas with features intermediate between DLBCL and BL. Double hit” lymphoma (DHL) is consistent with a rearrangement of both BCL2 (18q21) )and MYC (8q24), and is associated with a poor prognosis.
Confirm the diagnosis of Anaplastic large cell lymphoma (ALCL) by FISH analysis: Consider FISH for (2;5)(p23;q35)/ALK rearrangement(70–80%)
Confirm the diagnosis of solid tumors by Cytogenetic abnormalities
Clear cell sarcoma: t(12;22)(q13;q12)/EWSR1/AT F1(90% of cases)
Chondrosarcoma: t(9;22)(q22;q12)/ EWSR1/ NR4A3/ Deletions of chromosome 13q(generally associated with progression of disease and metastasis, regardless of tumor grade or size)
Ewing sarcoma: t(11;22)(q24;q12)/ EWSR1/ FLI1(90% of cases)
Liposarcoma: t(12;16)/CHOP gene at 12q13
Rhabdomyosarcoma: t(2;13)(q35;q14) and t(1;13)(p36;q14)
Synovial sarcoma: (X;18)(p11.2;q11.2)( 80–90%)
Bladder Cancer: P16/9p21 homozygous loss
Breast cancer: Her2/ERBB2/17 q.11.2-q12 amplification
