Molecular Cytogenetics (FISH)

Fluorescence in situ hybridization (FISH) utilizes fluorescently-labeled DNA probes to defined chromosomal sequences that are known to have translocation breakpoint cluster regions or centromeric sequences. This allows us to identify translocations, deletions, and amplifications of genes as well as changes in chromosome number. FISH can be applied to either metaphase or interphase (non-dividing) cell preparations. FISH analyses allow visualization of an abnormal chromosomal complement that otherwise may have gone undetected (e.g., in a hematologic population where cells are not dividing or in a patient who has a cryptic translocation or microdeletion). FISH can be performed for specific abnormalities such as translocation breakpoints in leukemia/lymphoma [t(9;22), t(15;17), inv(16), t(14;18), etc.]

FISH PANELS

  • PRENATAL/PERINATAL ANEUVYSION PANEL

    • – XY/18 enumeration
    • – 13/21 enumeration
  • CLL/SLL FISH PANEL

    • – 6q deletion (MYB)
    • – 11q deletion (ATM)
    • – Trisomy 12 (+12)
    • – 13q deletion (D13S319)
    • – 17p deletion (TP53)
  • MDS FISH PANEL

    • – 5q deletion (5q33-34)
    • – 7q deletion (7q31)
    • – Trisomy 8 (+8)
    • – 20q deletion (20q12)
  • AML FISH PANEL

    • – CBFB inv(16), t(16;16)
    • – MLL Rearrangement (11q23)
    • – PML/RARA t(15;17)
    • – RUNX/RUNX1T1 t(8;21)
  • PLASMA CELL/MYELOMA FISH PANEL

    • – 1q deletion
    • – Hyperdiploidy (5/9/15)
    • – 13q deletion (D13S319)
    • – 17p deletion (TP53)
    • – IGH Rearrangement (14q32)
    • – Reflex to IGH/MAF,
  • ALL FISH PANEL

    • – Hyperdiploidy (4/10/17)
    • – MYC Rearrangement (8q24)
    • – P16 deletion (9p21)
    • – BCR/ABL t(9;22)
    • – MLL Rearrangement (11q23)
    • – TEL/AML1 t(12;21)
    • – IGH Rearrangment (14q32)
    • – E2A Rearrangment (19p13.3)
  • BURKITT’S LYMPHOMA PANEL

    • – MYC Rearrangment (8q24)
    • – IGH/MYC t(8;14)
  • UROTHELIAL CANCER (UROVYSION)

    • – 3/7/9(p16)/17 enumeration
  • PROSTATE CANCER

    • – ERG
    • – 10q (PTEN)
  • MELANOMA PANEL

    • – 6p (RREB1) / 6q (MYB) / 6 /
  • CERVICAL CANCER

    • – 3q

 

FISH INIVIDUAL PROBES

  • 5q deletion (5q33-34) for MDS
  • 7q deletion (7q31) for MDS
  • 11q deletion (ATM) for CLL/SLL
  • 13q deletion (D13S319)
  • 17p deletion (TP53)
  • 20q deletion (20q12) for MDS
  • ALK Rearrangement for ALCL/NSCLC BCL1 Rearrangement t(11;14) for MCL BCL2 Rearrangement t(14;18)
  • for NHL BCL6 Rearrangement (3q27) for DLBCL BCR/ABL t(9;22) for CML, ALL
  • CBFB inv (16) for AML
  • EWSR1 Rearrangement for Ewing Sarcoma FIP1L1/PDGFRA (4q12 deletion) for HES, GIST FOXO1 for
  • Rhabdomyosarcoma
  • IGH Rearrangement
  • IGH/FGFR3 t(4;14) for MM
  • IGH/MAF t(14;16) for MM
  • IGH/MYC t(8;14) for BL
  • MALT1 Rearrangement for MALT lymphoma
  • MLL Rearrangment (11q23) for AML
  • MYC Rearrangment for (8q24) for BL, DLBCL NMYC Amplification for Neuroblastoma PML/RARA t(15;17) for APL
  • PDGFRB Rearrangement (5q33) for HES, MPN RARA Rearrangment (17q12-q21) for APL RUNX1/RUNX1T1
  • t(8;21) for AML SMS/RARA (17p/q) for equivocal HER2
  • SS18 (SYT) t(X;18) for synovial sarcoma
  • TEL/AML1 t(12;21) for ALL Trisomy 8 (+8) for MDS Trisomy 12 (+12) for CLL/SLL Trisomy 21 (+21) for
  • perinatal

More on the Complete Approach at Delta Pathology Group LLC