Addenda for Cytogenetics / FISH / and PCR Results
Andy Nguyen, M.D. / UT-Medical School at Houston, Pathology/ Last Revision on: 9/30/2017

 

CYTOGENETICS

Cytogenetics results: 46, XX (normal female karyotype without clonal aberrations)

Cytogenetics results: 46, XY (normal male karyotype without clonal aberrations)

 

FISH PANELS

 

ALL FISH Profile: BCR-ABL t(9;22), MLL (11q23), ETV6- RUNX1 t(12;21), IGH (14q32), TCR alpha/delta (14q11). For pediatric acute lymphoblastic leukemia: includes CEP4 and CEP10

 

AML FISH Profile: RUNX1T1/RUNX1 t(8;21), PML-RARA t(15;17), RARA (17q21), MYH11/CBFB or CBFB inv(16), MLL (11q23)

CLL FISH Profile: 6q- (6p/6q21/6q23), ATM (11q22), +12 (12cen), 13q14/13q34, TP53 (17p13)

CML FISH Profile: BCR-ABL/ASS1 t(9;22), +8 (8cen), RARA (17q21)

Myeloma FISH Profile: CKS1B/CDKN2C (1p/1q), D5S630, D5S2064/EGR1 (5p/5q), 13q14/13q34, TP53 (17p13), IGH/FGFR3 t(4;14), IGH/CCND1 t(11;14), IGH/MAF t(14;16)

iFISH Profile (on enriched CD138 plasma cells): CKS1B/CDKN2C (1p/1q), D5S630, D5S2064/EGR1 (5p/5q), 13q14/13q34, TP53 (17p13), IGH/FGFR3 t(4;14), IGH/CCND1 t(11;14), IGH/MAF t(14;16)

MDS FISH Profile (Standard): D5S630, D5S2064/EGR1 (5p/5q), D7S486 (7p11/ 7cen/ 7q31), +8 (8cen), D20S108 (20q)

MDS FISH Profile (Extended): D5S630, D5S2064/EGR1 (5p/5q), D7S486 (7p11/ 7cen/ 7q31), +8 (8cen), MLL (11q23), ETV6 (12p13), TP53 (17p13), and D20S108 (20q)

MPN-Eosinophilia FISH Profile : PDGFR-alpha (4q12), PDGFR-beta (5q32), FGFR1 (8p11)

MPN FISH Profile: BCR/ABL1/ASS t(9;22), CKS1B/ CDKN2C (1p/1q), D5S630, D5S2064/EGR1 (5p/5q), D7S486 (7p11/ 7cen/ 7q31), +8 (8cen), 13q14/13q34, and D20S108 (20q)

NHL FISH Profile: BCL6 (3q27), 6q21/6q23, MYC (8q24), IGH/CCND1 t(11;14), IGH/BCL2 t(14;18), MALT1 (18q21)

 

MOLECULAR TESTS/PROFILES

ABL1 Kinase Domain Mutation: DNA sequence of targeted regions of ABL (exons 4, 6-7) is determined using next-generation sequencing (NGS) technology.

AML Molecular Profile 24 gene mutations by NGS (ASXL1, BCOR, CEBPA, CSF3R, DNMT3A, EZH2,IDH1, IDH2, KIT, KRAS, NPM1, NRAS, PHF6, PTPN11, RAD21, RUNX1, SF3B1, SRSF2, STAG2, TET2, TP53, U2AF1, WT1, ZRSR2)

MPN Molecular Profile (NGS): CALR, CSF3R, JAK2, MPL and SETBP1

Myeloid Molecular Profile (NGS): ASXL1, BCOR, BRAF, CALR, CEBPA, CBL, CSF3R, DNMT3A, ETV6, EZH2, GATA2, GNAS, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NF1, NPM1, NRAS, PDGFRa, PDGFRb, PHF6, PTPN11, RAD21, RUNX1, SETBP1, SF3B1, SMC1A, SMC3, SRSF2, STAG2, STAT3, STAT5b, TET2, TP53, U2AF1, WT1 and ZRSR2

B-Cell Clonality Assessment: to detect clonal B-cell immunoglobulin heavy chain (IGH) gene rearrangement by polymerase chain reaction (PCR) of variable and joining regions on chromosome 14.

T-Cell Clonality Assessment (Gamma): T-cell receptor Gamma gene variable and joining regions on chromosome 7.